{ "ORPHA:166024": "Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome", "ORPHA:58": "Alexander disease", "ORPHA:166032": "Multiple epiphyseal dysplasia-miniepiphyses syndrome", "ORPHA:61": "Alpha-mannosidosis", "ORPHA:166029": "Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome", "ORPHA:166038": "Metaphyseal chondrodysplasia, Kaitila type", "ORPHA:93": "Aspartylglucosaminuria", "ORPHA:166035": "Brachydactyly-short stature-retinitis pigmentosa syndrome", "ORPHA:585": "Multiple sulfatase deficiency", "ORPHA:118": "Beta-mannosidosis", "ORPHA:166068": "Pontocerebellar hypoplasia type 5", "ORPHA:141": "Canavan disease", "ORPHA:166063": "Pontocerebellar hypoplasia type 4", "ORPHA:166078": "Von Willebrand disease type 1", "ORPHA:206": "NON RARE IN EUROPE: Crohn disease", "ORPHA:166073": "Pontocerebellar hypoplasia type 6", "ORPHA:213": "Cystinosis", "ORPHA:166084": "Von Willebrand disease type 2A", "ORPHA:333": "Farber disease", "ORPHA:166081": "Von Willebrand disease type 2", "ORPHA:349": "Fucosidosis", "ORPHA:166090": "Von Willebrand disease type 2M", "ORPHA:365": "Glycogen storage disease due to acid maltase deficiency", "ORPHA:166087": "Von Willebrand disease type 2B", "ORPHA:366": "Glycogen storage disease due to glycogen debranching enzyme deficiency", "ORPHA:166093": "Von Willebrand disease type 2N", "ORPHA:368": "Glycogen storage disease due to muscle glycogen phosphorylase deficiency", "ORPHA:166096": "Von Willebrand disease type 3", "ORPHA:367": "Glycogen storage disease due to glycogen branching enzyme deficiency", "ORPHA:166100": "Autosomal dominant otospondylomegaepiphyseal dysplasia", "ORPHA:371": "Glycogen storage disease due to muscle phosphofructokinase deficiency", "ORPHA:166105": "FASTKD2-related infantile mitochondrial encephalomyopathy", "ORPHA:369": "Glycogen storage disease due to liver glycogen phosphorylase deficiency", "ORPHA:447": "Paroxysmal nocturnal hemoglobinuria", "ORPHA:166108": "Birk-Barel syndrome", "ORPHA:166113": "Bazex syndrome", "ORPHA:535": "Rare cutaneous lupus erythematosus", "ORPHA:166119": "Isolated osteopoikilosis", "ORPHA:487": "Krabbe disease", "ORPHA:166260": "Dentinogenesis imperfecta type 2", "ORPHA:166265": "Dentinogenesis imperfecta type 3", "ORPHA:583": "Mucopolysaccharidosis type 6", "ORPHA:166272": "Odontochondrodysplasia", "ORPHA:576": "Mucolipidosis type II", "ORPHA:166277": "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia", "ORPHA:812": "Sialidosis type 1", "ORPHA:166282": "Familial sick sinus syndrome", "ORPHA:578": "Mucolipidosis type IV", "ORPHA:166286": "Porokeratotic eccrine ostial and dermal duct nevus", "ORPHA:577": "Mucolipidosis type III", "ORPHA:166291": "Dirofilariasis", "ORPHA:166295": "Benign non-familial infantile seizures", "ORPHA:771": "NON RARE IN EUROPE: Ulcerative colitis", "ORPHA:166308": "Benign infantile focal epilepsy with midline spikes and waves during sleep", "ORPHA:166305": "Benign infantile seizures associated with mild gastroenteritis", "ORPHA:2912": "Poliomyelitis", "ORPHA:166302": "Benign partial epilepsy with secondarily generalized seizures in infancy", "ORPHA:166299": "Benign partial epilepsy of infancy with complex partial seizures", "ORPHA:796": "Sandhoff disease", "ORPHA:166409": "Photosensitive epilepsy", "ORPHA:801": "Scleroderma", "ORPHA:166311": "Benign partial infantile seizures", "ORPHA:461": "Recessive X-linked ichthyosis", "ORPHA:166421": "Orgasm-induced seizures", "ORPHA:856": "NON RARE IN EUROPE: Tourette syndrome", "ORPHA:166418": "Eating reflex epilepsy", "ORPHA:166415": "Audiogenic seizures", "ORPHA:584": "Mucopolysaccharidosis type 7", "ORPHA:825": "NON RARE IN EUROPE: Ankylosing spondylitis", "ORPHA:166412": "Hot water reflex epilepsy", "ORPHA:166433": "Reading seizures", "ORPHA:166430": "Micturation-induced seizures", "ORPHA:881": "Turner syndrome", "ORPHA:166427": "Startle epilepsy", "ORPHA:166424": "Thinking seizures", "ORPHA:95": "Friedreich ataxia", "ORPHA:166466": "Neurocutaneous syndrome with epilepsy", "ORPHA:848": "Beta-thalassemia", "ORPHA:166469": "Chromosomal anomaly with epilepsy as a major feature", "ORPHA:846": "Alpha-thalassemia", "ORPHA:166457": "OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis", "ORPHA:586": "Cystic fibrosis", "ORPHA:166463": "Epilepsy syndrome", "ORPHA:166478": "Cerebral malformation with epilepsy", "ORPHA:262": "Duchenne and Becker muscular dystrophy", "ORPHA:166481": "Metabolic diseases with epilepsy", "ORPHA:166472": "Monogenic disease with epilepsy", "ORPHA:166475": "Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes", "ORPHA:261": "Emery-Dreifuss muscular dystrophy", "ORPHA:166490": "Infectious disease with epilepsy", "ORPHA:166484": "Inflammatory and autoimmune disease with epilepsy", "ORPHA:166487": "Cerebral diseases of vascular origin with epilepsy", "ORPHA:550": "MELAS", "ORPHA:269": "Facioscapulohumeral dystrophy", "ORPHA:480": "Kearns-Sayre syndrome", "ORPHA:163898": "OBSOLETE: Classic paraneoplastic limbic encephalitis", "ORPHA:593": "Myofibrillar myopathy", "ORPHA:163895": "OBSOLETE: Paraneoplastic limbic encephalitis", "ORPHA:163908": "OBSOLETE: Limbic encephalitis with LGI1 antibodies", "ORPHA:163903": "OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens", "ORPHA:551": "MERRF", "ORPHA:597": "Central core disease", "ORPHA:607": "Nemaline myopathy", "ORPHA:163892": "OBSOLETE: Limbic encephalitis", "ORPHA:163746": "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease", "ORPHA:684": "Paramyotonia congenita of Von Eulenburg", "ORPHA:163931": "Acrodermatitis continua of Hallopeau", "ORPHA:273": "Steinert myotonic dystrophy", "ORPHA:163927": "Pustulosis palmaris et plantaris", "ORPHA:163937": "X-linked intellectual disability, Najm type", "ORPHA:163934": "Atopic keratoconjunctivitis", "ORPHA:163918": "OBSOLETE: Non-paraneoplastic limbic encephalitis", "ORPHA:163914": "OBSOLETE: Limbic encephalitis with nCMAgs antibodies", "ORPHA:163924": "OBSOLETE: Non-herpetic acute limbic encephalitis", "ORPHA:614": "Thomsen and Becker disease", "ORPHA:163921": "Posttransplant acute limbic encephalitis", "ORPHA:163966": "X-linked dominant chondrodysplasia, Chassaing-Lacombe type", "ORPHA:163971": "X-linked intellectual disability, Cilliers type", "ORPHA:163976": "X-linked intellectual disability, Van Esch type", "ORPHA:163979": "X-linked intellectual disability-craniofacioskeletal syndrome", "ORPHA:163953": "X-linked intellectual disability, Raymond type", "ORPHA:163956": "X-linked intellectual disability, Nascimento type", "ORPHA:163961": "X-linked cerebral-cerebellar-coloboma syndrome", "ORPHA:164004": "Middle and/or inner ear anomaly", "ORPHA:164726": "Acute myeloid leukemia and myelodysplastic syndromes related to radiation", "ORPHA:324": "Fabry disease", "ORPHA:163982": "X-linked intellectual disability-spastic quadriparesis syndrome", "ORPHA:163985": "Hyperekplexia-epilepsy syndrome", "ORPHA:778": "Rett syndrome", "ORPHA:163988": "OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type", "ORPHA:164001": "Rare odontal or periodontal disorder", "ORPHA:72": "Angelman syndrome", "ORPHA:165661": "Genetic pancreatic disease", "ORPHA:307": "Juvenile myoclonic epilepsy", "ORPHA:165658": "Genetic gastro-esophageal disease", "ORPHA:165655": "Genetic intestinal disease", "ORPHA:165652": "Rare genetic gastroenterological disease", "ORPHA:1941": "Juvenile absence epilepsy", "ORPHA:892": "Von Hippel-Lindau disease", "ORPHA:164823": "Rare acquired aplastic anemia", "ORPHA:731": "Autosomal recessive polycystic kidney disease", "ORPHA:164736": "Familial advanced sleep-phase syndrome", "ORPHA:138": "CHARGE syndrome", "ORPHA:558": "Marfan syndrome", "ORPHA:165805": "Familial mesial temporal lobe epilepsy with febrile seizures", "ORPHA:803": "Amyotrophic lateral sclerosis", "ORPHA:165711": "Rare abdominal surgical disease", "ORPHA:802": "NON RARE IN EUROPE: Multiple sclerosis", "ORPHA:165707": "Syndromic urogenital tract malformation", "ORPHA:100": "Ataxia-telangiectasia", "ORPHA:165704": "Non-syndromic urogenital tract malformation", "ORPHA:733": "Familial adenomatous polyposis", "ORPHA:165961": "OBSOLETE: Subcutaneous myiasis", "ORPHA:399": "Huntington disease", "ORPHA:165955": "Wound myiasis", "ORPHA:501": "Lafora disease", "ORPHA:165958": "Cavitary myiasis", "ORPHA:870": "Down syndrome", "ORPHA:512": "Metachromatic leukodystrophy", "ORPHA:166011": "Multiple epiphyseal dysplasia, Beighton type", "ORPHA:567": "22q11.2 deletion syndrome", "ORPHA:166016": "Multiple epiphyseal dysplasia, Lowry type", "ORPHA:232": "Sickle cell anemia", "ORPHA:165994": "Pituitary resistance to thyroid hormone", "ORPHA:536": "Systemic lupus erythematosus", "ORPHA:166002": "Multiple epiphyseal dysplasia due to collagen 9 anomaly", "ORPHA:534": "Oculocerebrorenal syndrome of Lowe", "ORPHA:165988": "Diazoxide-resistant diffuse hyperinsulinism", "ORPHA:790": "Retinoblastoma", "ORPHA:165991": "Exercise-induced hyperinsulinism", "ORPHA:652": "Multiple endocrine neoplasia type 1", "ORPHA:165985": "Diazoxide-sensitive diffuse hyperinsulinism", "ORPHA:908": "Fragile X syndrome", "ORPHA:3099": "Rheumatic fever", "ORPHA:739": "Prader-Willi syndrome", "ORPHA:47": "X-linked agammaglobulinemia", "ORPHA:580": "Mucopolysaccharidosis type 2", "ORPHA:579": "Mucopolysaccharidosis type 1", "ORPHA:905": "Wilson disease", "ORPHA:163209": "Non-syndromic cerebral malformation due to abnormal neuronal migration", "ORPHA:792": "X-linked retinoschisis", "ORPHA:163528": "OBSOLETE: Acute cutaneous lupus erythematosus", "ORPHA:383": "X-linked mixed deafness with perilymphatic gusher", "ORPHA:163525": "Subacute cutaneous lupus erythematosus", "ORPHA:827": "Stargardt disease", "ORPHA:163582": "Rare bacterial infectious disease", "ORPHA:163531": "Chronic cutaneous lupus erythematosus", "ORPHA:906": "Wiskott-Aldrich syndrome", "ORPHA:904": "Williams syndrome", "ORPHA:162521": "OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly", "ORPHA:280": "Wolf-Hirschhorn syndrome", "ORPHA:162516": "Isolated congenital nasal pyriform aperture stenosis", "ORPHA:15": "Achondroplasia", "ORPHA:96": "Ataxia with vitamin E deficiency", "ORPHA:162526": "Isolated congenital auditory ossicle malformation", "ORPHA:101": "Dentatorubral pallidoluysian atrophy", "ORPHA:783": "Rubinstein-Taybi syndrome", "ORPHA:163649": "Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome", "ORPHA:631": "Non-acquired isolated growth hormone deficiency", "ORPHA:276": "T-B+ severe combined immunodeficiency due to gamma chain deficiency", "ORPHA:163654": "Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome", "ORPHA:481": "Kennedy disease", "ORPHA:664": "Ornithine transcarbamylase deficiency", "ORPHA:163668": "Spondyloepiphyseal dysplasia, MacDermot type", "ORPHA:163673": "Spondyloepiphyseal dysplasia, Byers type", "ORPHA:163662": "Spondyloepiphyseal dysplasia, Reardon type", "ORPHA:394": "Homocystinuria due to cystathionine beta-synthase deficiency", "ORPHA:163665": "Spondyloepiphyseal dysplasia tarda, Kohn type", "ORPHA:508": "Leprechaunism", "ORPHA:163591": "Rare mycosis", "ORPHA:436": "Hypophosphatasia", "ORPHA:163596": "Hb Bart's hydrops fetalis", "ORPHA:163585": "Rare viral disease", "ORPHA:429": "Hypochondroplasia", "ORPHA:163588": "Rare parasitic disease", "ORPHA:437": "Hypophosphatemic rickets", "ORPHA:163637": "Rare disorder related with pregnancy, childbirth and puerperium", "ORPHA:104": "Leber hereditary optic neuropathy", "ORPHA:163631": "Bile acid synthesis defect with cholestasis and malabsorption", "ORPHA:2182": "Hydrocephalus with stenosis of the aqueduct of Sylvius", "ORPHA:163634": "Maffucci syndrome", "ORPHA:163717": "Benign familial mesial temporal lobe epilepsy", "ORPHA:163708": "Cryptogenic late-onset epileptic spasms", "ORPHA:636": "Neurofibromatosis type 1", "ORPHA:163703": "Febrile infection-related epilepsy syndrome", "ORPHA:649": "Norrie disease", "ORPHA:163727": "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", "ORPHA:163721": "Rolandic epilepsy-speech dyspraxia syndrome", "ORPHA:163684": "Leukoencephalopathy-dystonia-motor neuropathy syndrome", "ORPHA:163681": "CNTNAP2-related developmental and epileptic encephalopathy", "ORPHA:379": "Chronic granulomatous disease", "ORPHA:163678": "OBSOLETE: Unclassified spondylometaphyseal dysplasia", "ORPHA:16": "Blue cone monochromatism", "ORPHA:163699": "Alveolar soft tissue sarcoma", "ORPHA:644": "NARP syndrome", "ORPHA:637": "Full NF2-related schwannomatosis", "ORPHA:163696": "Action myoclonus-renal failure syndrome", "ORPHA:181": "X-linked hypohidrotic ectodermal dysplasia", "ORPHA:163693": "2p21 microdeletion syndrome", "ORPHA:163690": "Hypotonia-cystinuria syndrome", "ORPHA:337": "Fibrodysplasia ossificans progressiva", "ORPHA:3444": "Watson syndrome", "ORPHA:377": "Gorlin syndrome", "ORPHA:648": "Noonan syndrome", "ORPHA:281": "Monosomy 5p syndrome", "ORPHA:752": "46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "ORPHA:214": "Cystinuria", "ORPHA:510": "Lesch-Nyhan syndrome", "ORPHA:524": "Li-Fraumeni syndrome", "ORPHA:699": "Pearson syndrome", "ORPHA:640": "Hereditary neuropathy with liability to pressure palsies", "ORPHA:60": "Alpha-1-antitrypsin deficiency", "ORPHA:895": "Waardenburg syndrome type 2", "ORPHA:896": "Waardenburg syndrome type 3", "ORPHA:3140": "NON RARE IN EUROPE: Schizophrenia", "ORPHA:857": "Townes-Brocks syndrome", "ORPHA:894": "Waardenburg syndrome type 1", "ORPHA:682": "Hyperkalemic periodic paralysis", "ORPHA:800": "Schwartz-Jampel syndrome", "ORPHA:706": "NON RARE IN EUROPE: Patent arterial duct", "ORPHA:628": "Diastrophic dysplasia", "ORPHA:673": "Malaria", "ORPHA:681": "Hypokalemic periodic paralysis", "ORPHA:126": "Blepharophimosis-ptosis-epicanthus inversus syndrome", "ORPHA:107": "BOR syndrome", "ORPHA:774": "Hereditary hemorrhagic telangiectasia", "ORPHA:794": "Saethre-Chotzen syndrome", "ORPHA:710": "Pfeiffer syndrome", "ORPHA:2869": "Peutz-Jeghers syndrome", "ORPHA:862": "NON RARE IN EUROPE: Hereditary essential tremor", "ORPHA:893": "WAGR syndrome", "ORPHA:912": "Zellweger syndrome", "ORPHA:50": "Aicardi syndrome", "ORPHA:53": "Albers-Schönberg osteopetrosis", "ORPHA:14": "Abetalipoproteinemia", "ORPHA:52": "Alagille syndrome", "ORPHA:167": "Chédiak-Higashi syndrome", "ORPHA:195": "Cat-eye syndrome", "ORPHA:207": "Crouzon syndrome", "ORPHA:205": "Crigler-Najjar syndrome", "ORPHA:160148": "Cap polyposis", "ORPHA:201": "Cowden syndrome", "ORPHA:192": "Coffin-Lowry syndrome", "ORPHA:2442": "X-linked lymphoproliferative disease", "ORPHA:169808": "Mild hemophilia A", "ORPHA:169826": "Congenital vitamin K-dependent coagulation factors deficiency", "ORPHA:169802": "Severe hemophilia A", "ORPHA:169805": "Moderate hemophilia A", "ORPHA:562": "McCune-Albright syndrome", "ORPHA:565": "Menkes disease", "ORPHA:2443": "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies", "ORPHA:555": "NON RARE IN EUROPE: Celiac disease", "ORPHA:474": "Jeune syndrome", "ORPHA:540": "Familial hemophagocytic lymphohistiocytosis", "ORPHA:568": "Microphthalmia, Lenz type", "ORPHA:564": "Meckel syndrome", "ORPHA:289": "Ellis Van Creveld syndrome", "ORPHA:258": "Laminin subunit alpha 2-related congenital muscular dystrophy", "ORPHA:1247": "Schistosomiasis", "ORPHA:112": "Bartter syndrome", "ORPHA:169446": "OBSOLETE: Autosomal recessive hyper-IgE syndrome", "ORPHA:169443": "Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells", "ORPHA:1646": "Chromosome Y microdeletion syndrome", "ORPHA:169464": "Primary CD59 deficiency", "ORPHA:99": "Autosomal dominant cerebellar ataxia", "ORPHA:116": "Beckwith-Wiedemann syndrome", "ORPHA:87": "Apert syndrome", "ORPHA:169618": "NON RARE IN EUROPE: Secondary central precocious puberty", "ORPHA:169615": "NON RARE IN EUROPE: Idiopathic central precocious puberty", "ORPHA:97": "Familial paroxysmal ataxia", "ORPHA:169467": "Recurrent Neisseria infections due to factor D deficiency", "ORPHA:313": "Lamellar ichthyosis", "ORPHA:169799": "Mild hemophilia B", "ORPHA:169796": "Moderate hemophilia B", "ORPHA:169793": "Severe hemophilia B", "ORPHA:406": "NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia", "ORPHA:171220": "Rectal duplication", "ORPHA:1000": "Ocular albinism with late-onset sensorineural deafness", "ORPHA:999": "Ermine phenotype", "ORPHA:171430": "Severe congenital nemaline myopathy", "ORPHA:171433": "Intermediate nemaline myopathy", "ORPHA:171436": "Typical nemaline myopathy", "ORPHA:171439": "Childhood-onset nemaline myopathy", "ORPHA:55": "Oculocutaneous albinism", "ORPHA:171442": "Adult-onset nemaline myopathy", "ORPHA:171445": "Muscle filaminopathy", "ORPHA:171607": "X-linked spastic paraplegia type 34", "ORPHA:2771": "Bruck syndrome", "ORPHA:106": "NON RARE IN EUROPE: Autism", "ORPHA:171612": "Autosomal dominant spastic paraplegia type 37", "ORPHA:171617": "Autosomal dominant spastic paraplegia type 38", "ORPHA:1349": "Mitochondrial DNA-related cardiomyopathy and hearing loss", "ORPHA:171622": "Autosomal recessive spastic paraplegia type 32", "ORPHA:171629": "Autosomal recessive spastic paraplegia type 35", "ORPHA:357": "NON RARE IN EUROPE: Gilbert syndrome", "ORPHA:861": "Treacher-Collins syndrome", "ORPHA:308": "Progressive myoclonic epilepsy type 1", "ORPHA:1991": "Cleft lip with or without cleft palate", "ORPHA:199": "Cornelia de Lange syndrome", "ORPHA:171201": "OBSOLETE: High isolated anorectal malformation", "ORPHA:2162": "Holoprosencephaly", "ORPHA:930": "Idiopathic achalasia", "ORPHA:171215": "OBSOLETE: Low isolated anorectal malformation", "ORPHA:998": "Albinism-deafness syndrome", "ORPHA:171208": "OBSOLETE: Intermediate isolated anorectal malformation", "ORPHA:1727": "22q11.2 duplication syndrome", "ORPHA:169079": "Cernunnos-XLF deficiency", "ORPHA:1716": "Distal duplication 18q syndrome", "ORPHA:1715": "Trisomy 18p syndrome", "ORPHA:3380": "Trisomy 18 syndrome", "ORPHA:168984": "CLAPO syndrome", "ORPHA:1707": "Distal duplication 15q syndrome", "ORPHA:168999": "Malignant melanoma of the mucosa", "ORPHA:3378": "Trisomy 13 syndrome", "ORPHA:168972": "Kahrizi syndrome", "ORPHA:169110": "Immunoglobulin heavy chain deficiency", "ORPHA:169100": "Immunodeficiency due to CD25 deficiency", "ORPHA:169105": "Good syndrome", "ORPHA:169090": "Combined immunodeficiency due to CRAC channel dysfunction", "ORPHA:236": "Trisomy 9p syndrome", "ORPHA:169095": "Severe combined immunodeficiency due to FOXN1 deficiency", "ORPHA:169082": "Combined immunodeficiency due to CD3gamma deficiency", "ORPHA:169085": "Susceptibility to respiratory infections associated with CD8alpha chain mutation", "ORPHA:168829": "Primary peritoneal carcinoma", "ORPHA:168816": "Peritoneal inclusion cyst", "ORPHA:753": "46,XY difference of sex development due to 5-alpha-reductase 2 deficiency", "ORPHA:868": "Triose phosphate-isomerase deficiency", "ORPHA:168811": "Malignant peritoneal mesothelioma", "ORPHA:168807": "Primary malignant peritoneal tumor", "ORPHA:168803": "Primary peritoneal tumor", "ORPHA:218": "Darier disease", "ORPHA:168796": "Heart-hand syndrome, Slovenian type", "ORPHA:1465": "Coffin-Siris syndrome", "ORPHA:168782": "Childhood disintegrative disorder", "ORPHA:1642": "Distal deletion 9p syndrome", "ORPHA:168966": "Composite lymphoma", "ORPHA:168960": "Refractory anemia with excess blasts in transformation", "ORPHA:8": "47,XYY syndrome", "ORPHA:1636": "Distal monosomy 7q36 syndrome", "ORPHA:168956": "Hypereosinophilic syndrome", "ORPHA:168953": "Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement", "ORPHA:1600": "Monosomy 18q syndrome", "ORPHA:168950": "Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement", "ORPHA:168947": "Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement", "ORPHA:1598": "Monosomy 18p syndrome", "ORPHA:168943": "Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2", "ORPHA:168940": "Chronic eosinophilic leukemia", "ORPHA:2773": "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome", "ORPHA:2772": "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome", "ORPHA:2609": "Isolated complex I deficiency", "ORPHA:169361": "Immune dysregulation disease with immunodeficiency", "ORPHA:626": "Large/giant congenital melanocytic nevus", "ORPHA:773": "Refsum disease", "ORPHA:11": "Pentasomy X syndrome", "ORPHA:169154": "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency", "ORPHA:370": "Glycogen storage disease due to phosphorylase kinase deficiency", "ORPHA:169150": "Immunodeficiency due to a late component of complement deficiency", "ORPHA:169160": "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta", "ORPHA:385": "Neurodegeneration with brain iron accumulation", "ORPHA:169157": "T-B+ severe combined immunodeficiency due to CD45 deficiency", "ORPHA:169139": "Transient hypogammaglobulinemia of infancy", "ORPHA:1947": "Progressive epilepsy-intellectual disability syndrome, Finnish type", "ORPHA:169147": "Immunodeficiency due to a classical component pathway complement deficiency", "ORPHA:169142": "Recurrent infections due to specific granule deficiency", "ORPHA:352": "Galactosemia", "ORPHA:596": "X-linked centronuclear myopathy", "ORPHA:169349": "Immuno-osseous dysplasia", "ORPHA:169346": "DNA repair defect other than combined T-cell and B-cell immunodeficiencies", "ORPHA:169355": "Immunodeficiency syndrome with autoimmunity", "ORPHA:610": "Bethlem muscular dystrophy", "ORPHA:169186": "Autosomal recessive centronuclear myopathy", "ORPHA:464": "Incontinentia pigmenti", "ORPHA:3307": "Tetrasomy 18p syndrome", "ORPHA:169163": "Familial scaphocephaly syndrome", "ORPHA:484": "NON RARE IN EUROPE: Klinefelter syndrome", "ORPHA:169189": "Autosomal dominant centronuclear myopathy", "ORPHA:3084": "Mirhosseini-Holmes-Walton syndrome", "ORPHA:44": "Neonatal adrenoleukodystrophy", "ORPHA:56": "Alkaptonuria", "ORPHA:963": "Acromegaly", "ORPHA:1059": "Blue rubber bleb nevus", "ORPHA:1006": "Alopecia antibody deficiency", "ORPHA:1046": "Lethal hemolytic anemia-genital anomalies syndrome", "ORPHA:22": "Succinic semialdehyde dehydrogenase deficiency", "ORPHA:29": "Mevalonic aciduria", "ORPHA:245": "Nager syndrome", "ORPHA:30": "Hereditary orotic aciduria", "ORPHA:36": "Acrocallosal syndrome", "ORPHA:915": "Aarskog-Scott syndrome", "ORPHA:2614": "Nail-patella syndrome", "ORPHA:33": "Isovaleric acidemia", "ORPHA:168194": "Rare cardiac tumor", "ORPHA:924": "NON RARE IN EUROPE: Acanthosis nigricans", "ORPHA:819": "Smith-Magenis syndrome", "ORPHA:3085": "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome", "ORPHA:9": "Tetrasomy X syndrome", "ORPHA:168615": "Hereditary persistence of alpha-fetoprotein", "ORPHA:168612": "Congenital deficiency in alpha-fetoprotein", "ORPHA:1442": "Ring chromosome 18 syndrome", "ORPHA:168621": "Dysplasia of head of femur, Meyer type", "ORPHA:1452": "Cleidocranial dysplasia", "ORPHA:1455": "OBSOLETE: Autosomal dominant coarctation of aorta", "ORPHA:168629": "Autosomal thrombocytopenia with normal platelets", "ORPHA:168624": "Familial scaphocephaly syndrome, McGillivray type", "ORPHA:193": "Cohen syndrome", "ORPHA:168778": "Rare pervasive developmental disorder", "ORPHA:1488": "Cooper-Jabs syndrome", "ORPHA:200": "Isolated corpus callosum agenesis", "ORPHA:168632": "Generalized basaloid follicular hamartoma syndrome", "ORPHA:1334": "Chronic mucocutaneous candidiasis", "ORPHA:168583": "Hereditary North American Indian childhood cirrhosis", "ORPHA:1369": "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome", "ORPHA:168577": "Hereditary cryohydrocytosis with reduced stomatin", "ORPHA:168593": "Sudden infant death-dysgenesis of the testes syndrome", "ORPHA:1406": "Charlie M syndrome", "ORPHA:168588": "Hyperandrogenism due to cortisone reductase deficiency", "ORPHA:168601": "Congenital enteropathy due to enteropeptidase deficiency", "ORPHA:1414": "Cholestasis-lymphedema syndrome", "ORPHA:168598": "Methionine adenosyltransferase I/III deficiency", "ORPHA:1417": "OBSOLETE: Platyspondylic lethal chondrodysplasia", "ORPHA:168609": "Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure", "ORPHA:168606": "Seborrhea-like dermatitis with psoriasiform elements", "ORPHA:1155": "OBSOLETE: Arthrogryposis due to muscular dystrophy", "ORPHA:168549": "Axial spondylometaphyseal dysplasia", "ORPHA:168552": "Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome", "ORPHA:1154": "Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome", "ORPHA:168555": "Spondylometaphyseal dysplasia, A4 type", "ORPHA:1162": "NON RARE IN EUROPE: Asperger syndrome", "ORPHA:168558": "46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency", "ORPHA:168563": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome", "ORPHA:124": "Diamond-Blackfan anemia", "ORPHA:1232": "NON RARE IN EUROPE: Barrett esophagus", "ORPHA:168566": "Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3", "ORPHA:1310": "Caffey disease", "ORPHA:168569": "H syndrome", "ORPHA:168572": "Native American myopathy", "ORPHA:125": "Bloom syndrome", "ORPHA:90": "Argininemia", "ORPHA:168443": "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome", "ORPHA:1065": "Aniridia-cerebellar ataxia-intellectual disability syndrome", "ORPHA:168448": "Spondyloepimetaphyseal dysplasia, Bieganski type", "ORPHA:168451": "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome", "ORPHA:1135": "Arrhinia-choanal atresia-microphthalmia syndrome", "ORPHA:168454": "Spondyloepimetaphyseal dysplasia, Geneviève type", "ORPHA:1146": "Distal arthrogryposis type 1", "ORPHA:1143": "Neurogenic arthrogryposis multiplex congenita", "ORPHA:168486": "OBSOLETE: Congenital neuronal ceroid lipofuscinosis", "ORPHA:168491": "OBSOLETE: Late infantile neuronal ceroid lipofuscinosis", "ORPHA:168544": "Spondylometaphyseal dysplasia, Golden type", "ORPHA:1147": "Sheldon-Hall syndrome", "ORPHA:246": "Postaxial acrofacial dysostosis", "ORPHA:1819": "OBSOLETE: Epimetaphyseal skeletal dysplasia", "ORPHA:1770": "XY type gonadal dysgenesis-associated anomalies syndrome", "ORPHA:1775": "Dyskeratosis congenita", "ORPHA:1764": "Familial dysautonomia", "ORPHA:235": "Dubowitz syndrome", "ORPHA:239": "Dyggve-Melchior-Clausen disease", "ORPHA:167762": "Rare disease with dentinogenesis imperfecta", "ORPHA:1672": "Diencephalic syndrome", "ORPHA:167759": "Hereditary dentin defect", "ORPHA:833": "Encephalopathy due to sulfite oxidase deficiency", "ORPHA:167714": "Unclassified acute myeloid leukemia", "ORPHA:167635": "Scleromyxedema", "ORPHA:765": "Pyruvate dehydrogenase deficiency", "ORPHA:395": "Homocystinuria due to methylene tetrahydrofolate reductase deficiency", "ORPHA:408": "Isolated glycerol kinase deficiency", "ORPHA:148": "Multiple carboxylase deficiency", "ORPHA:147": "Carbamoyl-phosphate synthetase 1 deficiency", "ORPHA:23": "Argininosuccinic aciduria", "ORPHA:45": "Adenosine monophosphate deaminase deficiency", "ORPHA:166775": "Rare hemorrhagic disorder due to an acquired coagulation factor defect", "ORPHA:226": "Dihydropteridine reductase deficiency", "ORPHA:217": "Isolated Dandy-Walker malformation", "ORPHA:1564": "Dandy-Walker malformation-facial hemangioma syndrome", "ORPHA:1556": "Cutis marmorata telangiectatica congenita", "ORPHA:1538": "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome", "ORPHA:1496": "Corpus callosum agenesis-neuronopathy syndrome", "ORPHA:417": "Neonatal severe primary hyperparathyroidism", "ORPHA:2233": "Hypogonadism-mitral valve prolapse-intellectual disability syndrome", "ORPHA:2248": "Hypoplastic left heart syndrome", "ORPHA:446": "Neonatal hemochromatosis", "ORPHA:2135": "Cutaneous mastocytosis-deafness-microtia syndrome", "ORPHA:2140": "Congenital diaphragmatic hernia", "ORPHA:2185": "Congenital hydrocephalus", "ORPHA:2113": "Congenital hypothalamic hamartoma syndrome", "ORPHA:2116": "Hartnup disease", "ORPHA:2118": "Hawkinsinuria", "ORPHA:167848": "Rare cardiomyopathy", "ORPHA:351": "Galactosialidosis", "ORPHA:374": "Goldenhar syndrome", "ORPHA:2020": "Congenital fiber-type disproportion myopathy", "ORPHA:2005": "OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome", "ORPHA:2053": "Freeman-Sheldon syndrome", "ORPHA:1931": "Frontal encephalocele", "ORPHA:295": "Fetal parvovirus syndrome", "ORPHA:1933": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria", "ORPHA:1880": "Ebstein malformation of the tricuspid valve", "ORPHA:255": "Dopa-responsive dystonia", "ORPHA:1915": "Fetal alcohol syndrome", "ORPHA:1885": "Isolated ectopia lentis", "ORPHA:1851": "Multicystic dysplastic kidney", "ORPHA:660": "Omphalocele", "ORPHA:180312": "Rare vulvovaginal tumor", "ORPHA:635": "Neuroblastoma", "ORPHA:2612": "Linear nevus sebaceus syndrome", "ORPHA:2635": "Metatropic dysplasia", "ORPHA:2655": "Thanatophoric dysplasia", "ORPHA:180303": "Rare non-malformative uterine adnexal disease", "ORPHA:606": "Proximal myotonic myopathy", "ORPHA:705": "Pendred syndrome", "ORPHA:180779": "Syndromic diaphragmatic or thoracic malformation", "ORPHA:2870": "NON RARE IN EUROPE: Peyronie syndrome", "ORPHA:180776": "Non-syndromic diaphragmatic or thoracic malformation", "ORPHA:2801": "Juvenile Paget disease", "ORPHA:884": "Tetrasomy 12p syndrome", "ORPHA:180772": "Rare disease with autism", "ORPHA:180766": "Malformative syndrome with dentinogenesis imperfecta", "ORPHA:2785": "Osteopetrosis with renal tubular acidosis", "ORPHA:2744": "Horizontal gaze palsy with progressive scoliosis", "ORPHA:2746": "Opsismodysplasia", "ORPHA:2971": "Peroxisomal acyl-CoA oxidase deficiency", "ORPHA:2970": "Prune belly syndrome", "ORPHA:744": "Proteus syndrome", "ORPHA:2903": "Familial spontaneous pneumothorax", "ORPHA:2901": "Neuralgic amyotrophy", "ORPHA:718": "Isolated Pierre Robin sequence", "ORPHA:180821": "Rare gastroesophageal tumor", "ORPHA:180824": "Rare tumor of pancreas", "ORPHA:717": "OBSOLETE: Catecholamine-producing tumor", "ORPHA:181387": "Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism", "ORPHA:290": "Congenital rubella syndrome", "ORPHA:3071": "Costello syndrome", "ORPHA:181390": "Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature", "ORPHA:181381": "Other rare diabetes mellitus", "ORPHA:181384": "Rare hypothalamic or pituitary disease", "ORPHA:181371": "Rare diabetes mellitus type 1", "ORPHA:763": "Pycnodysostosis", "ORPHA:181376": "Rare diabetes mellitus type 2", "ORPHA:2983": "Difference of sex development-intellectual disability syndrome", "ORPHA:2982": "46,XX difference of sex development", "ORPHA:181368": "Rare insulin-resistance syndrome", "ORPHA:2981": "Pseudo-Zellweger syndrome", "ORPHA:180202": "Rare non-malformative breast disease", "ORPHA:2301": "Congenital short bowel syndrome", "ORPHA:180199": "Rare non-malformative gynecologic or obstetric disease", "ORPHA:469": "Hereditary fructose intolerance", "ORPHA:180208": "Anomaly of puberty or/and menstrual cycle", "ORPHA:2308": "Jacobsen syndrome", "ORPHA:180205": "Rare non-malformative uterovaginal or vulvovaginal disease", "ORPHA:2318": "Joubert syndrome with oculorenal defect", "ORPHA:2253": "Foveal hypoplasia-presenile cataract syndrome", "ORPHA:180188": "Isolated congenital breast hypoplasia/aplasia", "ORPHA:180182": "Supernumerary breasts", "ORPHA:180193": "Syndromic breast hypoplasia/aplasia", "ORPHA:2300": "Multiple intestinal atresia", "ORPHA:180226": "Embryonal carcinoma", "ORPHA:502": "Trichorhinophalangeal syndrome type 2", "ORPHA:180229": "Polyembryoma", "ORPHA:2370": "Larsen-like osseous dysplasia-short stature syndrome", "ORPHA:477": "KID syndrome", "ORPHA:2343": "OBSOLETE: Isolated cloverleaf skull syndrome", "ORPHA:180220": "Rare uterine adnexal tumor", "ORPHA:2346": "Angioosteohypertrophic syndrome", "ORPHA:180247": "Vaginal carcinoma", "ORPHA:506": "Leigh syndrome", "ORPHA:180250": "Rare breast tumor", "ORPHA:2430": "Congenital macroglossia", "ORPHA:180253": "Rare benign breast tumor", "ORPHA:2414": "Congenital pulmonary lymphangiectasia", "ORPHA:2373": "Congenital laryngomalacia", "ORPHA:180234": "Mixed germ cell tumor", "ORPHA:180237": "Benign tumor of fallopian tubes", "ORPHA:2377": "Laurence-Moon syndrome", "ORPHA:2374": "Isolated congenital laryngeal web", "ORPHA:180242": "Malignant tumor of fallopian tubes", "ORPHA:2466": "MASA syndrome", "ORPHA:180275": "Paget disease of the nipple", "ORPHA:560": "Marshall syndrome", "ORPHA:587": "Muir-Torre syndrome", "ORPHA:180284": "NON RARE IN EUROPE: Benign ductal tumor of breast", "ORPHA:570": "Moebius syndrome", "ORPHA:1505": "Short rib-polydactyly syndrome", "ORPHA:180257": "Rare malignant breast tumor", "ORPHA:180261": "Phyllodes tumor of the breast", "ORPHA:2431": "Central bilateral macrogyria", "ORPHA:180267": "Giant adenofibroma of the breast", "ORPHA:2444": "Congenital pulmonary airway malformation", "ORPHA:612": "Potassium-aggravated myotonia", "ORPHA:179494": "Obesity due to leptin receptor gene deficiency", "ORPHA:716": "Phenylketonuria", "ORPHA:179490": "Obesity due to congenital leptin resistance", "ORPHA:180071": "Unilateral aplasia of the Müllerian ducts", "ORPHA:180068": "Partial bilateral aplasia of the Müllerian ducts", "ORPHA:180065": "Non-syndromic uterovaginal malformation", "ORPHA:287": "Classical Ehlers-Danlos syndrome", "ORPHA:180062": "Uterovaginal malformation", "ORPHA:180106": "Bicervical bicornuate uterus and blind hemivagina", "ORPHA:180086": "Didelphys uterus", "ORPHA:180079": "Pseudounicornuate uterus", "ORPHA:180074": "True unicornuate uterus", "ORPHA:180122": "Septate uterus", "ORPHA:180118": "NON RARE IN EUROPE: Cordiform uterus", "ORPHA:180114": "Unicervical bicornuate uterus", "ORPHA:180111": "Bicervical bicornuate uterus with patent cervix and vagina", "ORPHA:180134": "Bicornuate uterus", "ORPHA:180139": "Uterine hypoplasia", "ORPHA:180126": "Complete septate uterus", "ORPHA:180129": "Partial septate uterus", "ORPHA:180148": "Syndromic uterovaginal malformation", "ORPHA:1020": "Early-onset autosomal dominant Alzheimer disease", "ORPHA:180151": "Rare vaginal malformation", "ORPHA:63": "Alport syndrome", "ORPHA:54": "X-linked recessive ocular albinism", "ORPHA:180142": "Absence of uterine body", "ORPHA:180145": "Uterine cervical aplasia and agenesis", "ORPHA:180160": "Transverse vaginal septum", "ORPHA:154": "Familial isolated dilated cardiomyopathy", "ORPHA:180163": "Rare breast malformation", "ORPHA:84": "Fanconi anemia", "ORPHA:180154": "Septate vagina", "ORPHA:70": "Proximal spinal muscular atrophy", "ORPHA:69": "Amyloidosis", "ORPHA:180157": "Longitudinal vaginal septum", "ORPHA:180173": "Deficient breast volume or number", "ORPHA:180176": "Familial juvenile hypertrophy of the breast", "ORPHA:191": "Cockayne syndrome", "ORPHA:166": "Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy", "ORPHA:155": "NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy", "ORPHA:180170": "Excess breast volume or number", "ORPHA:178551": "Aggressive primary cutaneous T-cell lymphoma", "ORPHA:178548": "Indolent primary cutaneous T-cell lymphoma", "ORPHA:834": "Free sialic acid storage disease", "ORPHA:178557": "Indolent primary cutaneous B-cell lymphoma", "ORPHA:178554": "Aggressive primary cutaneous B-cell lymphoma", "ORPHA:3135": "NON RARE IN EUROPE: Scheuermann's disease", "ORPHA:799": "Schizencephaly", "ORPHA:178563": "Primary cutaneous B-cell lymphoma", "ORPHA:3151": "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome", "ORPHA:178566": "Mycosis fungoides and variants", "ORPHA:813": "Silver-Russell syndrome", "ORPHA:3169": "Sirenomelia", "ORPHA:816": "Sjögren-Larsson syndrome", "ORPHA:821": "Sotos syndrome", "ORPHA:3173": "Infantile spasms-broad thumbs syndrome", "ORPHA:3204": "Stormorken-Sjaastad-Langslet syndrome", "ORPHA:3205": "Sturge-Weber syndrome", "ORPHA:3320": "Thrombocytopenia-absent radius syndrome", "ORPHA:178996": "Acquired neutropenia", "ORPHA:3346": "Tracheal agenesis", "ORPHA:179006": "Primary immunodeficiency due to a defect in adaptive immunity", "ORPHA:858": "Congenital toxoplasmosis", "ORPHA:1245": "BIDS syndrome", "ORPHA:3390": "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome", "ORPHA:887": "VACTERL/VATER association", "ORPHA:291": "Congenital varicella syndrome", "ORPHA:909": "Cerebrotendinous xanthomatosis", "ORPHA:3447": "Weaver syndrome", "ORPHA:1422": "Chondrodysplasia-difference of sex development syndrome", "ORPHA:178478": "Infant botulism", "ORPHA:178481": "Intestinal botulism", "ORPHA:178469": "Autosomal dominant non-syndromic intellectual disability", "ORPHA:178475": "Wound botulism", "ORPHA:178461": "X-linked myopathy with postural muscle atrophy", "ORPHA:178464": "Hereditary myopathy with early respiratory failure", "ORPHA:178396": "Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation", "ORPHA:178400": "Distal myopathy with anterior tibial onset", "ORPHA:178382": "Congenital vertical talus", "ORPHA:178389": "Osteopetrosis-hypogammaglobulinemia syndrome", "ORPHA:62": "Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3", "ORPHA:178364": "Syndromic microphthalmia type 5", "ORPHA:715": "Glycogen storage disease due to muscle phosphorylase kinase deficiency", "ORPHA:178377": "Osteosclerosis-developmental delay-craniosynostosis syndrome", "ORPHA:348": "Fructose-1,6-bisphosphatase deficiency", "ORPHA:178345": "Aromatase excess syndrome", "ORPHA:178355": "Smith-McCort dysplasia", "ORPHA:178338": "UV-sensitive syndrome", "ORPHA:3137": "Alpha-N-acetylgalactosaminidase deficiency", "ORPHA:3435": "NON RARE IN EUROPE: Vitiligo", "ORPHA:178342": "Inflammatory myofibroblastic tumor", "ORPHA:178544": "Primary cutaneous diffuse large B-cell lymphoma, leg type", "ORPHA:178540": "Primary cutaneous follicle center lymphoma", "ORPHA:117": "Behçet disease", "ORPHA:732": "Polymyositis", "ORPHA:178536": "Primary cutaneous marginal zone B-cell lymphoma", "ORPHA:178533": "Primary cutaneous gamma/delta-positive T-cell lymphoma", "ORPHA:221": "Dermatomyositis", "ORPHA:598": "Multiminicore myopathy", "ORPHA:178528": "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma", "ORPHA:204": "Sporadic Creutzfeldt-Jakob disease", "ORPHA:178522": "Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma", "ORPHA:178517": "Localized pagetoid reticulosis", "ORPHA:178512": "Folliculotropic mycosis fungoides", "ORPHA:178509": "Perry syndrome", "ORPHA:178506": "Brain calcification, Rajab type", "ORPHA:178503": "Dursun syndrome", "ORPHA:611": "Inclusion body myositis", "ORPHA:178493": "NON RARE IN EUROPE: Myopic macular degeneration", "ORPHA:178487": "Adult intestinal botulism", "ORPHA:177926": "Bleeding disorder in hemophilia A carriers", "ORPHA:581": "Mucopolysaccharidosis type 3", "ORPHA:177929": "Bleeding disorder in hemophilia B carriers", "ORPHA:178025": "Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations", "ORPHA:685": "Hereditary spastic paraplegia", "ORPHA:666": "Osteogenesis imperfecta", "ORPHA:178029": "Arginine vasopressin deficiency", "ORPHA:177901": "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1", "ORPHA:423": "Malignant hyperthermia of anesthesia", "ORPHA:177904": "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2", "ORPHA:418": "Congenital adrenal hyperplasia", "ORPHA:177907": "Prader-Willi syndrome due to translocation", "ORPHA:177910": "Prader-Willi syndrome due to imprinting mutation", "ORPHA:216": "Neuronal ceroid lipofuscinosis", "ORPHA:364": "Glycogen storage disease due to glucose-6-phosphatase deficiency", "ORPHA:177101": "Rare adult hypothyroidism", "ORPHA:355": "Gaucher disease", "ORPHA:388": "Hirschsprung disease", "ORPHA:177107": "Syndromic hypothyroidism", "ORPHA:448": "Hemophilia", "ORPHA:304": "Epidermolysis bullosa simplex", "ORPHA:174590": "Congenital hypogonadotropic hypogonadism", "ORPHA:354": "GM1 gangliosidosis", "ORPHA:178320": "Acute lung injury", "ORPHA:178315": "Undifferentiated embryonal sarcoma of the liver", "ORPHA:178333": "Åland Islands eye disease", "ORPHA:362": "NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency", "ORPHA:760": "Purine nucleoside phosphorylase deficiency", "ORPHA:178330": "OBSOLETE: Heinz body anemia", "ORPHA:270": "Oculopharyngeal muscular dystrophy", "ORPHA:178303": "8q22.1 microdeletion syndrome", "ORPHA:244": "Primary ciliary dyskinesia", "ORPHA:178148": "Antenatal multiminicore disease with arthrogryposis multiplex congenita", "ORPHA:178311": "Isolated sternocostoclavicular hyperostosis", "ORPHA:178307": "Reticulate acropigmentation of Kitamura", "ORPHA:589": "Myasthenia gravis", "ORPHA:805": "Tuberous sclerosis complex", "ORPHA:886": "Usher syndrome", "ORPHA:178145": "Moderate multiminicore disease with hand involvement", "ORPHA:3440": "Waardenburg syndrome", "ORPHA:178040": "Rare peripheral precocious puberty", "ORPHA:702": "Pelizaeus-Merzbacher disease", "ORPHA:738": "Porphyria", "ORPHA:768": "Familial long QT syndrome", "ORPHA:178045": "Transient congenital hypothyroidism", "ORPHA:791": "Retinitis pigmentosa", "ORPHA:172985": "OBSOLETE: Congenital myopathy with vacuoles", "ORPHA:375": "Anti-glomerular basement membrane disease", "ORPHA:2054": "OBSOLETE: Osteochondritis of tarsal/metatarsal bone", "ORPHA:172979": "OBSOLETE: Congenital myopathy with central nuclei", "ORPHA:183": "Eosinophilic granulomatosis with polyangiitis", "ORPHA:172982": "OBSOLETE: Congenital myopathy with fiber size variation", "ORPHA:1164": "Allergic bronchopulmonary aspergillosis", "ORPHA:2406": "Locked-in syndrome", "ORPHA:509": "Leptospirosis", "ORPHA:761": "Immunoglobulin A vasculitis", "ORPHA:2131": "Alternating hemiplegia of childhood", "ORPHA:171901": "Primary cutaneous T-cell lymphoma", "ORPHA:713": "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency", "ORPHA:171915": "B-cell non-Hodgkin lymphoma", "ORPHA:57": "Glycogen storage disease due to aldolase A deficiency", "ORPHA:171895": "Myeloid hemopathy", "ORPHA:171898": "Lymphoid hemopathy", "ORPHA:172973": "OBSOLETE: Congenital myopathy with protein accumulation", "ORPHA:249": "Fibrous dysplasia of bone", "ORPHA:172976": "Congenital myopathy with cores", "ORPHA:2334": "Autosomal dominant keratitis", "ORPHA:171918": "T-cell non-Hodgkin lymphoma", "ORPHA:755": "Leydig cell hypoplasia", "ORPHA:171929": "Trisomy 10p syndrome", "ORPHA:187": "Citrullinemia", "ORPHA:46": "Adenylosuccinate lyase deficiency", "ORPHA:442": "Congenital hypothyroidism", "ORPHA:43": "X-linked adrenoleukodystrophy", "ORPHA:3166": "Sialuria", "ORPHA:2882": "Sitosterolemia", "ORPHA:810": "Shigellosis", "ORPHA:3165": "Eosinophilic fasciitis", "ORPHA:2420": "Primary pulmonary lymphoma", "ORPHA:727": "Microscopic polyangiitis", "ORPHA:900": "Granulomatosis with polyangiitis", "ORPHA:3185": "NON RARE IN EUROPE: Polycystic ovary syndrome", "ORPHA:863": "Trichinellosis", "ORPHA:171695": "Parkinsonian-pyramidal syndrome", "ORPHA:134": "Beta-ketothiolase deficiency", "ORPHA:171700": "Diffuse panbronchiolitis", "ORPHA:984": "Pulmonary agenesis", "ORPHA:171703": "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome", "ORPHA:171706": "Short stature-delayed bone age due to thyroid hormone metabolism deficiency", "ORPHA:171709": "Male infertility due to globozoospermia", "ORPHA:171714": "Amish infantile epilepsy syndrome", "ORPHA:171719": "Cutis laxa-Marfanoid syndrome", "ORPHA:1163": "Aspergillosis", "ORPHA:171723": "White sponge nevus", "ORPHA:3467": "Hereditary xanthinuria", "ORPHA:171673": "Limbal stem cell deficiency", "ORPHA:171676": "NON RARE IN EUROPE: Periventricular leukomalacia", "ORPHA:511": "Maple syrup urine disease", "ORPHA:171680": "Lissencephaly due to TUBA1A mutation", "ORPHA:32": "Glutathione synthetase deficiency", "ORPHA:171684": "Idiopathic bilateral vestibulopathy", "ORPHA:171690": "Metabolic myopathy due to lactate transporter defect", "ORPHA:26": "Methylmalonic acidemia with homocystinuria", "ORPHA:171863": "Autosomal dominant spastic paraplegia type 42", "ORPHA:171860": "OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome", "ORPHA:171871": "Renal pseudohypoaldosteronism type 1", "ORPHA:322": "Exstrophy-epispadias complex", "ORPHA:171866": "Spondyloepimetaphyseal dysplasia, aggrecan type", "ORPHA:2368": "Gastroschisis", "ORPHA:171881": "Cap myopathy", "ORPHA:2512": "Autosomal recessive primary microcephaly", "ORPHA:2913": "Non-syndromic polydactyly", "ORPHA:171876": "Generalized pseudohypoaldosteronism type 1", "ORPHA:795": "Rare form of salmonellosis", "ORPHA:171889": "Myopathy with hexagonally cross-linked tubular arrays", "ORPHA:797": "Sarcoidosis", "ORPHA:171886": "Cylindrical spirals myopathy", "ORPHA:171836": "Amelogenesis imperfecta-gingival hyperplasia syndrome", "ORPHA:92": "Juvenile idiopathic arthritis", "ORPHA:171829": "6q16 microdeletion syndrome", "ORPHA:1201": "Small bowel atresia", "ORPHA:171844": "Blindness-scoliosis-arachnodactyly syndrome", "ORPHA:171839": "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome", "ORPHA:1202": "Larynx atresia", "ORPHA:1199": "Esophageal atresia", "ORPHA:171851": "MEDNIK syndrome", "ORPHA:171848": "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome", "ORPHA:1304": "Brucellosis", "ORPHA:173": "Cholera", "ORPHA:1428": "OBSOLETE: Familial chondromalacia patellae", "ORPHA:200037": "Paroxysmal dystonia", "ORPHA:3303": "Tetralogy of Fallot", "ORPHA:200418": "Immunodeficiency with factor I anomaly", "ORPHA:730": "Autosomal dominant polycystic kidney disease", "ORPHA:200421": "Immunodeficiency with factor H anomaly", "ORPHA:486": "Autosomal dominant severe congenital neutropenia", "ORPHA:1209": "Tricuspid atresia", "ORPHA:199647": "Isolated encephalocele", "ORPHA:98": "Autosomal recessive spastic ataxia of Charlevoix-Saguenay", "ORPHA:1480": "NON RARE IN EUROPE: Ventricular septal defect", "ORPHA:1478": "Interatrial communication", "ORPHA:330": "Congenital factor XII deficiency", "ORPHA:1482": "Gonococcal conjunctivitis", "ORPHA:1959": "Evans syndrome", "ORPHA:284": "Alveolar echinococcosis", "ORPHA:1177": "Early-onset cerebellar ataxia with retained tendon reflexes", "ORPHA:828": "Stickler syndrome", "ORPHA:1431": "Paroxysmal dyskinesia", "ORPHA:293": "Congenital herpes simplex virus infection", "ORPHA:199340": "Muscular dystrophy, Selcen type", "ORPHA:199337": "Pancreatic insufficiency-anemia-hyperostosis syndrome", "ORPHA:234": "Dubin-Johnson syndrome", "ORPHA:199348": "Thiamine-responsive encephalopathy", "ORPHA:3287": "Takayasu arteritis", "ORPHA:199343": "EAST syndrome", "ORPHA:2800": "Extramammary Paget disease", "ORPHA:199326": "Isolated autosomal dominant hypomagnesemia, Glaudemans type", "ORPHA:199323": "Endophthalmitis", "ORPHA:1928": "Congenital lobar emphysema", "ORPHA:199332": "Endocrine-cerebro-osteodysplasia syndrome", "ORPHA:199329": "Congenital myopathy, Paradas type", "ORPHA:2665": "Congenital mesoblastic nephroma", "ORPHA:3463": "Wolfram syndrome", "ORPHA:1549": "NON RARE IN EUROPE: Cryptosporidiosis", "ORPHA:199633": "Non-syndromic cerebral malformation", "ORPHA:199642": "Isolated congenital microcephaly", "ORPHA:199639": "Syndrome with corpus callosum agenesis/dysgenesis as a major feature", "ORPHA:549": "Legionnaires disease", "ORPHA:704": "Pemphigus vulgaris", "ORPHA:199354": "Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy", "ORPHA:199351": "Adult-onset dystonia-parkinsonism", "ORPHA:356": "Gerstmann-Straussler-Scheinker syndrome", "ORPHA:466": "Fatal familial insomnia", "ORPHA:199630": "Isolated cerebellar vermis hypoplasia", "ORPHA:199627": "Atypical autism", "ORPHA:1249": "OBSOLETE: Binswanger disease", "ORPHA:1983": "NON RARE IN EUROPE: Chronic fatigue syndrome", "ORPHA:199293": "Congenital microgastria", "ORPHA:3452": "Whipple disease", "ORPHA:199282": "Harlequin syndrome", "ORPHA:199285": "Hereditary hypercarotenemia and vitamin A deficiency", "ORPHA:2331": "Kawasaki disease", "ORPHA:199276": "Familial multiple lipomatosis", "ORPHA:2102": "GTP cyclohydrolase I deficiency", "ORPHA:199279": "Familial angiolipomatosis", "ORPHA:199260": "Calcifying aponeurotic fibroma", "ORPHA:3002": "Immune thrombocytopenia", "ORPHA:199267": "Infantile digital fibromatosis", "ORPHA:199315": "Familial clubfoot with or without associated lower limb anomalies", "ORPHA:2040": "Congenital respiratory-biliary fistula", "ORPHA:199318": "15q13.3 microdeletion syndrome", "ORPHA:199310": "Tetragametic chimerism syndrome", "ORPHA:2357": "Bronchogenic cyst", "ORPHA:274": "Bernard-Soulier syndrome", "ORPHA:1195": "Congenital atransferrinemia", "ORPHA:199302": "Isolated cleft lip", "ORPHA:199306": "Cleft lip/palate", "ORPHA:926": "Acatalasemia", "ORPHA:3020": "Ramsay Hunt syndrome", "ORPHA:199296": "Congenital isolated ACTH deficiency", "ORPHA:1531": "Craniosynostosis", "ORPHA:199299": "Late-onset isolated ACTH deficiency", "ORPHA:1675": "Dihydropyrimidine dehydrogenase deficiency", "ORPHA:189427": "Cushing syndrome due to bilateral macronodular adrenocortical disease", "ORPHA:976": "Adenine phosphoribosyltransferase deficiency", "ORPHA:189424": "OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia", "ORPHA:3129": "Sarcosinemia", "ORPHA:415": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "ORPHA:13": "6-pyruvoyl-tetrahydropterin synthase deficiency", "ORPHA:199257": "Superficial fibromatosis", "ORPHA:2494": "Ménétrier disease", "ORPHA:171": "Primary sclerosing cholangitis", "ORPHA:199251": "Ledderhose disease", "ORPHA:2416": "Congenital primary lymphedema without systemic or visceral involvement", "ORPHA:199247": "Corticosteroid-binding globulin deficiency", "ORPHA:199244": "Nelson syndrome", "ORPHA:199241": "Pulmonary capillary hemangiomatosis", "ORPHA:2134": "Atypical hemolytic uremic syndrome", "ORPHA:189466": "Familial isolated hypoparathyroidism due to impaired PTH secretion", "ORPHA:17": "Fatal infantile lactic acidosis with methylmalonic aciduria", "ORPHA:189439": "OBSOLETE: Primary pigmented nodular adrenocortical disease", "ORPHA:3006": "Pyridoxine-dependent epilepsy", "ORPHA:780": "Rhabdomyosarcoma", "ORPHA:3111": "Rotor syndrome", "ORPHA:2382": "Lennox-Gastaut syndrome", "ORPHA:2806": "Subacute sclerosing leukoencephalitis", "ORPHA:2467": "Systemic mastocytosis", "ORPHA:120": "NON RARE IN EUROPE: Pernicious anemia", "ORPHA:1934": "Early infantile epileptic encephalopathy", "ORPHA:845": "Tay-Sachs disease", "ORPHA:1942": "Myoclonic-astatic epilepsy", "ORPHA:1935": "Early myoclonic encephalopathy", "ORPHA:1943": "Early-onset progressive encephalopathy with migrant continuous myoclonus", "ORPHA:3451": "Infantile epileptic spasms syndrome", "ORPHA:3299": "Tetanus", "ORPHA:2302": "Asbestos intoxication", "ORPHA:770": "Rabies", "ORPHA:3386": "American trypanosomiasis", "ORPHA:267": "Calpain-3-related limb-girdle muscular dystrophy R1", "ORPHA:1329": "Complete atrioventricular septal defect", "ORPHA:582": "Mucopolysaccharidosis type 4", "ORPHA:2137": "Autoimmune hepatitis", "ORPHA:186": "Primary biliary cholangitis", "ORPHA:1136": "OBSOLETE: Arnold-Chiari malformation type II", "ORPHA:397": "Giant cell arteritis", "ORPHA:2932": "Chronic inflammatory demyelinating polyneuropathy", "ORPHA:2398": "Multiple symmetric lipomatosis", "ORPHA:1656": "Dermatitis herpetiformis", "ORPHA:183763": "Rare genetic syndromic intellectual disability", "ORPHA:855": "NON RARE IN EUROPE: Hashimoto thyroiditis", "ORPHA:183770": "Rare genetic immune disease", "ORPHA:850": "May-Hegglin thrombocytopenia", "ORPHA:3198": "Stiff person spectrum disorder", "ORPHA:183757": "Rare genetic intellectual disability", "ORPHA:2929": "Juvenile polyposis syndrome", "ORPHA:131": "Budd-Chiari syndrome", "ORPHA:646": "Niemann-Pick disease type C", "ORPHA:654": "Nephroblastoma", "ORPHA:1489": "Whooping cough", "ORPHA:2764": "Osteochondritis dissecans", "ORPHA:2587": "Myeloperoxidase deficiency", "ORPHA:3389": "Tuberculosis", "ORPHA:1679": "Diphtheria", "ORPHA:1267": "Botulism", "ORPHA:2897": "Pityriasis rubra pilaris", "ORPHA:183672": "OBSOLETE: Common variable immunodeficiency due to TNFR deficiency", "ORPHA:2103": "Guillain-Barré syndrome", "ORPHA:183669": "Agammaglobulinemia", "ORPHA:183666": "Hyper-IgM syndrome without susceptibility to opportunistic infections", "ORPHA:2070": "Eosinophilic gastroenteritis", "ORPHA:183663": "Hyper-IgM syndrome with susceptibility to opportunistic infections", "ORPHA:2312": "Transient familial neonatal hyperbilirubinemia", "ORPHA:183707": "Infantile LAD-like disease due to RAC2 deficiency", "ORPHA:2314": "Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency", "ORPHA:183681": "Congenital functional phagocyte defect", "ORPHA:183678": "Hermansky-Pudlak syndrome due to AP-3 deficiency", "ORPHA:449": "Hepatoblastoma", "ORPHA:183675": "Recurrent infections associated with rare immunoglobulin isotypes deficiency", "ORPHA:2177": "Hydranencephaly", "ORPHA:183731": "Rare genetic gynecological and obstetrical diseases", "ORPHA:533": "Listeriosis", "ORPHA:183716": "OBSOLETE: Other complex syndrome of primary immunodeficiency", "ORPHA:183713": "OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency", "ORPHA:2372": "Laryngocele", "ORPHA:183710": "Genetic susceptibility to infections due to particular pathogens", "ORPHA:2380": "Legg-Calvé-Perthes disease", "ORPHA:683": "Progressive supranuclear palsy", "ORPHA:677": "Pancreatoblastoma", "ORPHA:2810": "NON RARE IN EUROPE: Idiopathic facial palsy", "ORPHA:183734": "Genetic gynecological tumor", "ORPHA:183651": "Rare constitutional anemia", "ORPHA:183660": "Severe combined immunodeficiency", "ORPHA:897": "Waardenburg-Shah syndrome", "ORPHA:183654": "Rare genetic coagulation disorder", "ORPHA:183637": "Rare genetic adrenal disease", "ORPHA:808": "Seckel syndrome", "ORPHA:183643": "Genetic polyendocrinopathy", "ORPHA:183628": "Rare genetic hypothalamic or pituitary disease", "ORPHA:183625": "Rare genetic diabetes mellitus", "ORPHA:183634": "Rare genetic parathyroid disease and phosphocalcic metabolism disorder", "ORPHA:844": "Lown-Ganong-Levine syndrome", "ORPHA:183631": "Rare genetic thyroid disease", "ORPHA:183616": "Genetic neuro-ophthalmological disease", "ORPHA:3027": "Caudal regression syndrome", "ORPHA:183622": "Genetic respiratory malformation", "ORPHA:183619": "Genetic eye tumor", "ORPHA:183601": "OBSOLETE: Rare genetic refraction anomaly", "ORPHA:183604": "OBSOLETE: Rare genetic glaucoma", "ORPHA:183607": "Genetic lens and zonula anomaly", "ORPHA:676": "Hereditary chronic pancreatitis", "ORPHA:183589": "Genetic thrombotic microangiopathy", "ORPHA:183592": "Genetic renal tubular disease", "ORPHA:643": "Giant axonal neuropathy", "ORPHA:183595": "Genetic renal tumor", "ORPHA:183598": "OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease", "ORPHA:634": "Netherton syndrome", "ORPHA:140": "Campomelic dysplasia", "ORPHA:183576": "Genetic branchial arch or oral-acral syndrome", "ORPHA:2828": "Young-onset Parkinson disease", "ORPHA:183580": "Genetic malformation syndrome with odontal and/or periodontal component", "ORPHA:642": "Hereditary sensory and autonomic neuropathy type 4", "ORPHA:183583": "Genetic head and neck malformation", "ORPHA:183586": "Genetic glomerular disease", "ORPHA:183557": "Genetic developmental defect of the eye", "ORPHA:627": "Nance-Horan syndrome", "ORPHA:183570": "Genetic malformation syndrome with short stature", "ORPHA:638": "Neurofibromatosis-Noonan syndrome", "ORPHA:183573": "Genetic overgrowth/obesity syndrome", "ORPHA:326": "Congenital factor V deficiency", "ORPHA:183554": "Genetic respiratory or mediastinal malformation", "ORPHA:526": "Liddle syndrome", "ORPHA:183548": "Genetic visceral malformation of the liver, biliary tract, pancreas or spleen", "ORPHA:650": "LCAT deficiency", "ORPHA:427": "Familial hypoaldosteronism", "ORPHA:183545": "Genetic digestive tract malformation", "ORPHA:183542": "Genetic cranial malformation", "ORPHA:215": "Congenital stationary night blindness", "ORPHA:183539": "Genetic renal or urinary tract malformation", "ORPHA:342": "Familial Mediterranean fever", "ORPHA:183536": "Genetic congenital limb malformation", "ORPHA:180": "Choroideremia", "ORPHA:183533": "Genetic multiple congenital anomalies/dysmorphic syndrome", "ORPHA:183530": "Rare genetic developmental defect during embryogenesis", "ORPHA:754": "Androgen insensitivity syndrome", "ORPHA:253": "Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia", "ORPHA:183527": "Genetic bone tumor", "ORPHA:183524": "Rare genetic bone disease", "ORPHA:327": "Congenital factor VII deficiency", "ORPHA:183521": "Rare genetic movement disorder", "ORPHA:183518": "Hereditary ataxia", "ORPHA:183515": "Rare genetic medullar disease", "ORPHA:373": "Simpson-Golabi-Behmel syndrome", "ORPHA:183512": "Rare genetic epilepsy", "ORPHA:183509": "Rare genetic headache", "ORPHA:403": "Familial hyperaldosteronism type I", "ORPHA:183503": "Genetic central nervous system and retinal vascular disease", "ORPHA:183506": "Genetic central nervous system malformation", "ORPHA:574": "21q deletion syndrome", "ORPHA:183497": "Genetic neuromuscular disease", "ORPHA:183500": "Genetic neurodegenerative disease", "ORPHA:151": "OBSOLETE: Familial renal cell carcinoma", "ORPHA:183490": "Genetic photodermatosis", "ORPHA:183494": "Genetic immune deficiency with skin involvement", "ORPHA:653": "Multiple endocrine neoplasia type 2", "ORPHA:146": "Differentiated thyroid carcinoma", "ORPHA:183484": "Genetic subcutaneous tissue disorder", "ORPHA:183487": "Genetic skin tumor or hamartoma", "ORPHA:1331": "Familial prostate cancer", "ORPHA:183478": "Genetic skin vascular disorder", "ORPHA:183481": "Genetic mixed dermis disorder", "ORPHA:157": "Carnitine palmitoyltransferase II deficiency", "ORPHA:183472": "Genetic dermis disorder", "ORPHA:847": "X-linked alpha-thalassemia-intellectual disability syndrome", "ORPHA:183466": "Genetic hyperpigmentation of the skin", "ORPHA:183469": "Genetic hypopigmentation of the skin", "ORPHA:183460": "Genetic sebaceous gland anomaly", "ORPHA:1446": "Ring chromosome 22 syndrome", "ORPHA:183463": "Genetic pigmentation anomaly of the skin", "ORPHA:183438": "Genetic erythrokeratoderma", "ORPHA:183435": "Inherited ichthyosis", "ORPHA:2268": "ICF syndrome", "ORPHA:183444": "Genetic porokeratosis", "ORPHA:183441": "Genetic acrokeratoderma", "ORPHA:183450": "Genetic hair anomaly", "ORPHA:183447": "Genetic epidermal appendage anomaly", "ORPHA:475": "Joubert syndrome", "ORPHA:392": "Holt-Oram syndrome", "ORPHA:183454": "Genetic nail anomaly", "ORPHA:182228": "Systemic autoimmune disease", "ORPHA:182222": "Rare systemic disease", "ORPHA:113": "Bazex-Dupré-Christol syndrome", "ORPHA:86": "Familial abdominal aortic aneurysm", "ORPHA:182231": "Rare rheumatologic disease", "ORPHA:243": "46,XX gonadal dysgenesis", "ORPHA:182734": "Genetic urticaria", "ORPHA:183426": "Genetic epidermal disorder", "ORPHA:183422": "Polymalformative genetic syndrome with increased risk of developing cancer", "ORPHA:182111": "Respiratory malformation", "ORPHA:136": "Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy", "ORPHA:182114": "Rare urogenital tumor", "ORPHA:48": "Congenital bilateral absence of vas deferens", "ORPHA:182117": "Non-syndromic urogenital tract malformation of female", "ORPHA:182121": "Non-syndromic urogenital tract malformation of male", "ORPHA:182124": "Non-syndromic urogenital tract malformation of male and female", "ORPHA:182127": "Extragonadal germinoma", "ORPHA:182130": "Tumor of endocrine glands", "ORPHA:528": "Congenital generalized lipodystrophy", "ORPHA:182214": "OBSOLETE: Rare inflammatory eye disease", "ORPHA:275": "Severe combined immunodeficiency due to DCLRE1C deficiency", "ORPHA:182083": "Channelopathy with epilepsy", "ORPHA:182086": "Acquired peripheral neuropathy", "ORPHA:182090": "Pulmonary arterial hypertension", "ORPHA:182095": "Interstitial lung disease", "ORPHA:182098": "Pneumoconiosis", "ORPHA:184": "Cherubism", "ORPHA:182101": "Idiopathic eosinophilic pneumonia", "ORPHA:182104": "Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease", "ORPHA:1047": "Sideroblastic anemia", "ORPHA:182108": "Thoracic malformation", "ORPHA:71": "Chylomicron retention disease", "ORPHA:182067": "Glial tumor", "ORPHA:182064": "Rare neuroinflammatory or neuroimmunological disease", "ORPHA:182061": "Cerebellar malformation", "ORPHA:182058": "Primary orthostatic hypotension", "ORPHA:182079": "ARX-related epileptic encephalopathy", "ORPHA:1949": "Self-limited neonatal epilepsy", "ORPHA:182076": "OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability", "ORPHA:189": "Hidrotic ectodermal dysplasia", "ORPHA:1473": "Uveal coloboma-cleft lip and palate-intellectual disability", "ORPHA:182073": "OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability", "ORPHA:182070": "Rare neurodegenerative disease", "ORPHA:194": "OBSOLETE: Ocular coloboma", "ORPHA:182040": "Rare aplastic anemia", "ORPHA:182054": "Rare thrombotic disease of hematologic origin", "ORPHA:1344": "Atrial standstill", "ORPHA:182050": "MYH9-related disease", "ORPHA:182047": "Rare acquired hemolytic anemia", "ORPHA:182043": "Rare constitutional hemolytic anemia", "ORPHA:3103": "Roberts syndrome", "ORPHA:181425": "OBSOLETE: Rare major hypertriglyceridemia", "ORPHA:181428": "Familial Hyperalphalipoproteinemia", "ORPHA:181419": "Rare hypoaldosteronism", "ORPHA:181422": "Rare hyperlipidemia", "ORPHA:709": "Peters plus syndrome", "ORPHA:181437": "Rare syndromic dyslipidemia", "ORPHA:181441": "Rare disorder with hypergonadotropic hypogonadism", "ORPHA:181431": "Rare hypolipidemia", "ORPHA:776": "Lujan-Fryns syndrome", "ORPHA:181399": "Rare hyperthyroidism", "ORPHA:670": "PIBIDS syndrome", "ORPHA:181402": "Syndrome with hypoparathyroidism", "ORPHA:907": "NON RARE IN EUROPE: Wolff-Parkinson-White syndrome", "ORPHA:181393": "Growth hormone insensitivity syndrome", "ORPHA:902": "Werner syndrome", "ORPHA:181396": "Rare hypothyroidism", "ORPHA:888": "Van der Woude syndrome", "ORPHA:181412": "Adrenogenital syndrome", "ORPHA:181415": "Rare primary hyperaldosteronism", "ORPHA:453": "IBIDS syndrome", "ORPHA:181405": "Rare hypoparathyroidism", "ORPHA:871": "Familial progressive cardiac conduction defect", "ORPHA:181408": "Rare hyperparathyroidism", "ORPHA:1597": "Distal deletion 17q syndrome", "ORPHA:1590": "Distal deletion 13q syndrome", "ORPHA:1587": "Monosomy 13q14 syndrome", "ORPHA:1625": "OBSOLETE: Deletion 4q", "ORPHA:1621": "3q13 microdeletion syndrome", "ORPHA:1620": "Distal deletion 3p syndrome", "ORPHA:1611": "OBSOLETE: Deletion 20p", "ORPHA:1643": "Xp22.3 microdeletion syndrome", "ORPHA:1627": "Deletion 5q35 syndrome", "ORPHA:1699": "Trisomy 12p syndrome", "ORPHA:1695": "Non-distal duplication 10q syndrome", "ORPHA:500": "Noonan syndrome with multiple lentigines", "ORPHA:507": "Leishmaniasis", "ORPHA:548": "Leprosy", "ORPHA:233": "Duane retraction syndrome", "ORPHA:657": "Congenital isolated hyperinsulinism", "ORPHA:2445": "Conotruncal heart malformations", "ORPHA:2495": "Meningioma", "ORPHA:569": "Familial or sporadic hemiplegic migraine", "ORPHA:323": "NON RARE IN EUROPE: FG syndrome phenotypic spectrum", "ORPHA:2014": "Cleft palate", "ORPHA:240": "Léri-Weill dyschondrosteosis", "ORPHA:2311": "Autosomal recessive spondylocostal dysostosis", "ORPHA:358": "Gitelman syndrome", "ORPHA:242": "46,XY complete gonadal dysgenesis", "ORPHA:2052": "Fraser syndrome", "ORPHA:1354": "Heart defects-limb shortening syndrome", "ORPHA:1358": "Carey-Fineman-Ziter syndrome", "ORPHA:557": "Non-syndromic anorectal malformation", "ORPHA:111": "Barth syndrome", "ORPHA:10": "48,XXYY syndrome", "ORPHA:1308": "C syndrome", "ORPHA:150": "Nasopharyngeal carcinoma", "ORPHA:133": "Chronic beryllium disease", "ORPHA:1552": "Currarino syndrome", "ORPHA:1450": "Ring chromosome 8 syndrome", "ORPHA:1448": "Ring chromosome 6 syndrome", "ORPHA:1581": "Non-distal deletion 10q syndrome", "ORPHA:1580": "Distal deletion 10p syndrome", "ORPHA:1437": "Ring chromosome 1 syndrome", "ORPHA:172": "Progressive familial intrahepatic cholestasis", "ORPHA:164": "NON RARE IN EUROPE: Cerebral cavernous malformations", "ORPHA:1447": "Ring chromosome 4 syndrome", "ORPHA:1444": "Ring chromosome 20 syndrome", "ORPHA:1439": "Ring chromosome 12 syndrome", "ORPHA:1438": "Ring chromosome 10 syndrome", "ORPHA:2615": "Nakajo-Nishimura syndrome", "ORPHA:624": "Familial multiple nevi flammei", "ORPHA:2601": "OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome", "ORPHA:3306": "Inverted duplicated chromosome 15 syndrome", "ORPHA:3375": "Trisomy X syndrome", "ORPHA:3310": "Tetrasomy 9p syndrome", "ORPHA:3000": "Familial peripheral male-limited precocious puberty", "ORPHA:680": "Normokalemic periodic paralysis", "ORPHA:3305": "Tetraploidy syndrome", "ORPHA:3176": "Spina bifida-hypospadias syndrome", "ORPHA:1708": "Mosaic trisomy 16 syndrome", "ORPHA:1711": "Mosaic trisomy 17 syndrome", "ORPHA:3376": "Triploidy syndrome", "ORPHA:1692": "Mosaic trisomy 1 syndrome", "ORPHA:1698": "Mosaic trisomy 12 syndrome", "ORPHA:1706": "Mosaic trisomy 15 syndrome", "ORPHA:916": "Aase-Smith syndrome", "ORPHA:918": "ABCD syndrome", "ORPHA:920": "Ablepharon macrostomia syndrome", "ORPHA:1445": "Ring chromosome 21 syndrome", "ORPHA:7": "3C syndrome", "ORPHA:931": "Isolated acheiropodia", "ORPHA:929": "Achalasia-microcephaly syndrome", "ORPHA:869": "Triple A syndrome", "ORPHA:2297": "Insulin-resistance syndrome type A", "ORPHA:922": "Familial nasal acilia", "ORPHA:921": "Abruzzo-Erickson syndrome", "ORPHA:27": "Vitamin B12-unresponsive methylmalonic acidemia", "ORPHA:939": "3-hydroxyisobutyric aciduria", "ORPHA:31": "Oxoglutaric aciduria", "ORPHA:935": "Short-limb skeletal dysplasia with severe combined immunodeficiency", "ORPHA:932": "Achondrogenesis", "ORPHA:1795": "OBSOLETE: Peripheral dysostosis", "ORPHA:37": "Acrodermatitis enteropathica", "ORPHA:950": "Acrodysostosis", "ORPHA:949": "Acrocraniofacial dysostosis", "ORPHA:945": "Acalvaria", "ORPHA:946": "OBSOLETE: Acrocephalosyndactyly", "ORPHA:957": "Acropectorovertebral dysplasia", "ORPHA:958": "Acro-renal-mandibular syndrome", "ORPHA:955": "Hajdu-Cheney syndrome", "ORPHA:956": "Acropectororenal dysplasia", "ORPHA:953": "OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type", "ORPHA:952": "Acrofacial dysostosis, Weyers type", "ORPHA:1702": "Non-distal duplication 13q syndrome", "ORPHA:1703": "Mosaic trisomy 14 syndrome", "ORPHA:1705": "Distal duplication 14q syndrome", "ORPHA:1713": "17p11.2 microduplication syndrome", "ORPHA:1738": "Trisomy 4p syndrome", "ORPHA:1739": "OBSOLETE: Duplication 4q", "ORPHA:1742": "Trisomy 5p syndrome", "ORPHA:1745": "Distal duplication 6p syndrome", "ORPHA:1752": "Trisomy 8q syndrome", "ORPHA:1762": "Proximal Xq28 duplication syndrome", "ORPHA:1878": "TRIM32-related limb-girdle muscular dystrophy R8", "ORPHA:1877": "Muscular dystrophy-white matter spongiosis syndrome", "ORPHA:1876": "Oculogastrointestinal muscular dystrophy", "ORPHA:1948": "Epilepsy-microcephaly-skeletal dysplasia syndrome", "ORPHA:1946": "Amelocerebrohypohidrotic syndrome", "ORPHA:1981": "Fanconi syndrome-ichthyosis-dysmorphism syndrome", "ORPHA:1951": "Epilepsy-telangiectasia syndrome", "ORPHA:381": "Griscelli syndrome", "ORPHA:2604": "Familial visceral myopathy", "ORPHA:156": "Carnitine palmitoyl transferase 1A deficiency", "ORPHA:2597": "Mitochondrial myopathy-lactic acidosis-deafness syndrome", "ORPHA:2598": "Mitochondrial myopathy and sideroblastic anemia", "ORPHA:1088": "OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome", "ORPHA:1078": "Thumb stiffness-brachydactyly-intellectual disability syndrome", "ORPHA:1077": "Dental ankylosis", "ORPHA:1074": "Ankyloblepharon filiforme adnatum-imperforate anus syndrome", "ORPHA:1072": "Ankyloblepharon filiforme adnatum-cleft palate syndrome", "ORPHA:1071": "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome", "ORPHA:1069": "Aniridia-absent patella syndrome", "ORPHA:1068": "Aniridia-intellectual disability syndrome", "ORPHA:1067": "Aniridia-ptosis-intellectual disability-familial obesity syndrome", "ORPHA:1064": "Aniridia-renal agenesis-psychomotor retardation syndrome", "ORPHA:1062": "Hereditary neurocutaneous malformation", "ORPHA:1060": "Systemic cystic angiomatosis-Seip syndrome", "ORPHA:138221": "OBSOLETE: Rare sucking/swallowing disorder", "ORPHA:1057": "OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome", "ORPHA:138118": "OBSOLETE: Acquired alimentary behavior disorder of infancy", "ORPHA:1053": "Vein of Galen aneurysmal malformation", "ORPHA:138115": "OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular disease", "ORPHA:138112": "OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies", "ORPHA:1055": "Congenital left ventricular aneurysm", "ORPHA:138109": "OBSOLETE: Sucking/swallowing disorder associated with posterior fossa anomalies", "ORPHA:138104": "OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomalies", "ORPHA:1052": "Mosaic variegated aneuploidy syndrome", "ORPHA:138101": "OBSOLETE: Sucking/swallowing disorder associated with suprabulbar anomalies", "ORPHA:138095": "OBSOLETE: Sucking/swallowing disorder associated with neurologic anomalies", "ORPHA:138084": "OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformation", "ORPHA:1040": "Metaphyseal anadysplasia", "ORPHA:138080": "OBSOLETE: Syndromic sucking/swallowing disorder with unidentifyed syndrome", "ORPHA:1041": "Hydrops fetalis", "ORPHA:138076": "OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly", "ORPHA:1037": "Arthrogryposis multiplex congenita", "ORPHA:138072": "OBSOLETE: Sucking/swallowing disorder associated with an identified syndrome", "ORPHA:1126": "Aprosencephaly cerebellar dysgenesis", "ORPHA:1125": "Ocular motor apraxia, Cogan type", "ORPHA:1121": "Radial deficiency-tibial hypoplasia syndrome", "ORPHA:1120": "Lung agenesis-heart defect-thumb anomalies syndrome", "ORPHA:1122": "Ulnar hypoplasia-split foot syndrome", "ORPHA:1116": "Aplasia cutis congenita-intestinal lymphangiectasia syndrome", "ORPHA:1115": "OBSOLETE: Recessive aplasia cutis congenita of limbs", "ORPHA:1118": "Fibular aplasia-ectrodactyly syndrome", "ORPHA:1117": "Aplasia cutis-myopia syndrome", "ORPHA:1110": "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome", "ORPHA:1113": "Aphalangy-syndactyly-microcephaly syndrome", "ORPHA:1112": "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome", "ORPHA:1106": "Microphthalmia with limb anomalies", "ORPHA:83": "Antley-Bixler syndrome", "ORPHA:1102": "Anophthalmia-hypothalamo-pituitary insufficiency syndrome", "ORPHA:1104": "Anophthalmia plus syndrome", "ORPHA:1094": "Anonychia-microcephaly syndrome", "ORPHA:1092": "Renal-genital-middle ear anomalies", "ORPHA:991": "PAGOD syndrome", "ORPHA:139039": "Orofacial clefting syndrome", "ORPHA:990": "Agnathia-holoprosencephaly-situs inversus syndrome", "ORPHA:989": "Hypoglossia-hypodactyly syndrome", "ORPHA:139042": "Malformation syndrome with odontal and/or periodontal component", "ORPHA:994": "Fetal akinesia deformation sequence", "ORPHA:51": "Aicardi-Goutières syndrome", "ORPHA:139021": "Malformation syndrome with short stature", "ORPHA:981": "Internal carotid absence", "ORPHA:139024": "Overgrowth/obesity syndrome", "ORPHA:139015": "OBSOLETE: Chondrodysplastic malformation syndrome", "ORPHA:978": "ADULT syndrome", "ORPHA:139018": "OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones", "ORPHA:977": "Adrenomyodystrophy", "ORPHA:988": "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome", "ORPHA:139033": "Progeroid syndrome", "ORPHA:139036": "Branchial arch or oral-acral syndrome", "ORPHA:139027": "Rare developmental defect with skin/mucosae involvement", "ORPHA:983": "Testicular regression syndrome", "ORPHA:139030": "Rare developmental defect with connective tissue involvement", "ORPHA:970": "Hereditary sensory and autonomic neuropathy type 2", "ORPHA:971": "Acrorenal syndrome", "ORPHA:40": "Acromesomelic dysplasia, Maroteaux type", "ORPHA:969": "Acromicric dysplasia", "ORPHA:139012": "Rare bone development disorder", "ORPHA:974": "Adams-Oliver syndrome", "ORPHA:139009": "Developmental anomaly of metabolic origin", "ORPHA:139006": "OBSOLETE: Sequence or association", "ORPHA:972": "Hereditary continuous muscle fiber activity", "ORPHA:973": "Isolated absence/hypoplasia of fingers excluding thumb, unilateral", "ORPHA:964": "Acromegaly-cutis verticis gyrata-corneal leukoma syndrome", "ORPHA:959": "Acro-renal-ocular syndrome", "ORPHA:968": "Acromesomelic dysplasia, Hunter-Thompson type", "ORPHA:965": "Acromegaloid facial appearance syndrome", "ORPHA:966": "Hypertrichosis-acromegaloid facial appearance syndrome", "ORPHA:139411": "Carney triad", "ORPHA:139414": "Congenital panfollicular nevus", "ORPHA:1028": "Amelo-onycho-hypohidrotic syndrome", "ORPHA:139417": "Acute transverse myelitis", "ORPHA:1031": "Enamel-renal syndrome", "ORPHA:139420": "OBSOLETE: Secondary acute transverse myelitis", "ORPHA:1034": "OBSOLETE: Amniotic bands", "ORPHA:139423": "Idiopathic acute transverse myelitis", "ORPHA:139426": "Perioral myoclonia with absences", "ORPHA:139431": "Epilepsy with eyelid myoclonia", "ORPHA:1035": "Beta-mercaptolactate cysteine disulfiduria", "ORPHA:139436": "Multicentric reticulohistiocytosis", "ORPHA:139373": "OBSOLETE: Recessive hereditary methemoglobinemia type 1", "ORPHA:1021": "Amaurosis-hypertrichosis syndrome", "ORPHA:139380": "OBSOLETE: Recessive hereditary methemoglobinemia type 2", "ORPHA:64": "Alström syndrome", "ORPHA:1023": "Congenital generalized hypertrichosis, Ambras type", "ORPHA:139390": "Non-syndromic craniosynostosis", "ORPHA:139393": "Syndromic craniosynostosis", "ORPHA:139396": "X-linked cerebral adrenoleukodystrophy", "ORPHA:139399": "Adrenomyeloneuropathy", "ORPHA:1027": "Autosomal recessive amelia", "ORPHA:139402": "Drug reaction with eosinophilia and systemic symptoms", "ORPHA:139406": "Encephalopathy due to prosaposin deficiency", "ORPHA:1008": "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome", "ORPHA:701": "Alopecia universalis", "ORPHA:1010": "Autosomal dominant palmoplantar keratoderma and congenital alopecia", "ORPHA:1011": "Alopecia-hypogonadism-extrapyramidal syndrome", "ORPHA:1014": "Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome", "ORPHA:1001": "2q37 microdeletion syndrome", "ORPHA:665": "Albright hereditary osteodystrophy", "ORPHA:59": "Allan-Herndon-Dudley syndrome", "ORPHA:1003": "Scalp defects-postaxial polydactyly syndrome", "ORPHA:1005": "Alopecia-contractures-dwarfism-intellectual disability syndrome", "ORPHA:1253": "Ascher syndrome", "ORPHA:1251": "Blepharofacioskeletal syndrome", "ORPHA:1252": "Blepharonasofacial malformation syndrome", "ORPHA:1248": "Maxillonasal dysplasia", "ORPHA:1250": "OBSOLETE: Blaichman syndrome", "ORPHA:127": "Borjeson-Forssman-Lehmann syndrome", "ORPHA:1264": "Tricho-retino-dento-digital syndrome", "ORPHA:1262": "Böök syndrome", "ORPHA:1263": "Boomerang dysplasia", "ORPHA:1259": "Blepharoptosis-myopia-ectopia lentis syndrome", "ORPHA:1261": "Bonnemann-Meinecke-Reich syndrome", "ORPHA:1256": "OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome", "ORPHA:1235": "OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome", "ORPHA:1234": "Bartsocas-Papas syndrome", "ORPHA:1231": "Barber-Say syndrome", "ORPHA:1229": "Congenital intrauterine infection-like syndrome", "ORPHA:109": "Bannayan-Riley-Ruvalcaba syndrome", "ORPHA:1228": "Banki syndrome", "ORPHA:1241": "Bencze syndrome", "ORPHA:1240": "Metaphyseal acroscyphodysplasia", "ORPHA:1239": "Behr syndrome", "ORPHA:1237": "Beemer-Ertbruggen syndrome", "ORPHA:114": "Auriculoosteodysplasia", "ORPHA:115": "Congenital contractural arachnodactyly", "ORPHA:1236": "Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome", "ORPHA:137622": "Intractable diarrhea-choanal atresia-eye anomalies syndrome", "ORPHA:137617": "Nephrogenic systemic fibrosis", "ORPHA:1292": "Brachymorphism-onychodysplasia-dysphalangism syndrome", "ORPHA:137628": "Cardiac anomalies-heterotaxy syndrome", "ORPHA:1293": "Brachyolmia", "ORPHA:137625": "Glycogen storage disease due to muscle and heart glycogen synthase deficiency", "ORPHA:137608": "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome", "ORPHA:137658": "Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome", "ORPHA:1299": "Branchioskeletogenital syndrome", "ORPHA:137653": "Microcephaly-digital anomalies-intellectual disability syndrome", "ORPHA:137672": "Pellucid marginal degeneration", "ORPHA:1300": "Autosomal dominant popliteal pterygium syndrome", "ORPHA:137667": "Capillary malformation-arteriovenous malformation", "ORPHA:1301": "Bronchiectasis-oligospermia syndrome", "ORPHA:137634": "Overgrowth-macrocephaly-facial dysmorphism syndrome", "ORPHA:1295": "Brachytelephalangy-dysmorphism-Kallmann syndrome", "ORPHA:137631": "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome", "ORPHA:1296": "Lambert syndrome", "ORPHA:1297": "Branchio-oculo-facial syndrome", "ORPHA:137639": "Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome", "ORPHA:137577": "Neonatal hypoxic and ischemic brain injury", "ORPHA:137583": "Vulvar intraepithelial neoplasia", "ORPHA:1276": "Brachydactyly-arterial hypertension syndrome", "ORPHA:1275": "Brachydactyly-elbow wrist dysplasia syndrome", "ORPHA:137586": "OBSOLETE: Herpes simplex virus keratitis", "ORPHA:1266": "Dermato-cardio-skeletal syndrome, Borrone type", "ORPHA:1271": "Bowen syndrome", "ORPHA:1270": "Bowen-Conradi syndrome", "ORPHA:137605": "Legius syndrome", "ORPHA:137593": "Infectious epithelial keratitis", "ORPHA:137596": "Neurotrophic keratopathy", "ORPHA:1278": "Brachydactyly-preaxial hallux varus syndrome", "ORPHA:137599": "Herpes simplex virus stromal keratitis", "ORPHA:137602": "Corneal endotheliitis", "ORPHA:1166": "Congenital unilateral hypoplasia of depressor anguli oris", "ORPHA:1168": "Ataxia-oculomotor apraxia type 1", "ORPHA:137820": "Extrapelvic endometriosis", "ORPHA:1160": "Chylous ascites", "ORPHA:137817": "Arachnoiditis", "ORPHA:137814": "Macular amyloidosis", "ORPHA:1174": "Cerebellar ataxia-ectodermal dysplasia syndrome", "ORPHA:137839": "Lemierre syndrome", "ORPHA:137834": "Frank-Ter Haar syndrome", "ORPHA:137831": "X-linked intellectual disability-cerebellar hypoplasia syndrome", "ORPHA:1170": "Autosomal recessive cerebelloparenchymal disorder type 3", "ORPHA:137862": "Martínez-Frías syndrome", "ORPHA:1178": "Ataxia-tapetoretinal degeneration syndrome", "ORPHA:1175": "X-linked progressive cerebellar ataxia", "ORPHA:1180": "Ataxia-hypogonadism-choroidal dystrophy syndrome", "ORPHA:137871": "OBSOLETE: Laminopathy type Decaudain-Vigouroux", "ORPHA:1179": "Benign paroxysmal tonic upgaze of childhood with ataxia", "ORPHA:1173": "Cerebellar ataxia-hypogonadism syndrome", "ORPHA:137867": "Madras motor neuron disease", "ORPHA:1139": "OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome", "ORPHA:137681": "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1", "ORPHA:1137": "OBSOLETE: Pulmonary aortic stenosis obstructive uropathy", "ORPHA:1133": "AREDYLD syndrome", "ORPHA:137675": "Histiocytoid cardiomyopathy", "ORPHA:1131": "X-linked mandibulofacial dysostosis", "ORPHA:137678": "Spondyloepiphyseal dysplasia with metatarsal shortening", "ORPHA:137698": "Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk", "ORPHA:137754": "Aminoacylase 1 deficiency", "ORPHA:1145": "Infantile-onset X-linked spinal muscular atrophy", "ORPHA:1144": "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome", "ORPHA:137686": "Asherman syndrome", "ORPHA:1153": "OBSOLETE: Transient neonatal arthrogryposis", "ORPHA:137776": "Lethal congenital contracture syndrome type 2", "ORPHA:1150": "Arthrogryposis multiplex congenita-whistling face syndrome", "ORPHA:1149": "Kuskokwim syndrome", "ORPHA:137807": "Primary cutaneous amyloidosis", "ORPHA:1159": "Progressive pseudorheumatoid dysplasia", "ORPHA:137810": "Nodular cutaneous amyloidosis", "ORPHA:137783": "Lethal congenital contracture syndrome type 3", "ORPHA:1211": "OBSOLETE: Atrichia-intellectual disability and growth delay syndrome", "ORPHA:1214": "Progressive hemifacial atrophy", "ORPHA:1215": "Autosomal dominant optic atrophy plus syndrome", "ORPHA:138041": "Pierre Robin syndrome associated with collagen disease", "ORPHA:1216": "Autosomal dominant congenital benign spinal muscular atrophy", "ORPHA:138047": "Pierre Robin syndrome associated with a chromosomal anomaly", "ORPHA:138044": "Rare disease with Pierre Robin syndrome", "ORPHA:1219": "Aurocephalosyndactyly", "ORPHA:138055": "Pierre Robin syndrome associated with bone disease", "ORPHA:1221": "Cheilitis glandularis", "ORPHA:138050": "Pierre Robin syndrome associated with branchial archs anomalies", "ORPHA:138063": "OBSOLETE: Syndrome associated with Pierre Robin syndrome", "ORPHA:138059": "Teratogenic Pierre Robin syndrome", "ORPHA:1225": "Baller-Gerold syndrome", "ORPHA:138069": "OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin syndrome", "ORPHA:1226": "Bamforth-Lazarus syndrome", "ORPHA:138066": "OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies", "ORPHA:1227": "Bangstad syndrome", "ORPHA:1184": "Ataxia-photosensitivity-short stature syndrome", "ORPHA:1182": "Spastic ataxia with congenital miosis", "ORPHA:137888": "Auriculocondylar syndrome", "ORPHA:137893": "Male infertility due to large-headed multiflagellar polyploid spermatozoa", "ORPHA:1186": "Infantile-onset spinocerebellar ataxia", "ORPHA:1185": "Spinocerebellar ataxia-dysmorphism syndrome", "ORPHA:137898": "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome", "ORPHA:1188": "Ataxia-deafness-intellectual disability syndrome", "ORPHA:137902": "OBSOLETE: Isolated optic nerve hypoplasia/aplasia", "ORPHA:137905": "Syndromic optic nerve hypoplasia", "ORPHA:1187": "Lethal ataxia with deafness and optic atrophy", "ORPHA:1190": "Atelosteogenesis type I", "ORPHA:137908": "Hypotonia with lactic acidemia and hyperammonemia", "ORPHA:137911": "Autism-facial port-wine stain syndrome", "ORPHA:137914": "Choanal atresia", "ORPHA:1193": "Atkin-Flaitz syndrome", "ORPHA:137917": "Choanal atresia, unilateral", "ORPHA:1200": "Burn-McKeown syndrome", "ORPHA:137920": "Choanal atresia, bilateral", "ORPHA:137923": "OBSOLETE: Cervicofacial lymphatic malformation", "ORPHA:1198": "Colonic atresia", "ORPHA:137926": "Primary laryngeal lymphangioma", "ORPHA:137929": "Neonatal brainstem dysfunction", "ORPHA:1203": "Duodenal atresia", "ORPHA:1208": "Pulmonary atresia-intact ventricular septum syndrome", "ORPHA:137932": "Congenital laryngeal palsy", "ORPHA:137935": "Airway infantile hemangioma", "ORPHA:1449": "Ring chromosome 7 syndrome", "ORPHA:141242": "Paramedian nasal cleft", "ORPHA:1453": "Cleidorhizomelic syndrome", "ORPHA:141239": "Median cleft of the upper lip and maxilla", "ORPHA:1440": "Ring chromosome 14 syndrome", "ORPHA:141234": "Median facial cleft", "ORPHA:1443": "Ring chromosome 19 syndrome", "ORPHA:141229": "Facial cleft", "ORPHA:141261": "Tessier number 5 facial cleft", "ORPHA:141258": "Tessier number 4 facial cleft", "ORPHA:1458": "CODAS syndrome", "ORPHA:141253": "Oblique facial cleft", "ORPHA:1454": "Joubert syndrome with hepatic defect", "ORPHA:190": "Coats disease", "ORPHA:141199": "Cerebrofacial arteriovenous metameric syndrome type 3", "ORPHA:1429": "Benign hereditary chorea", "ORPHA:141194": "Cerebrofacial arteriovenous metameric syndrome type 1", "ORPHA:141189": "Cerebrofacial arteriovenous metameric syndrome", "ORPHA:1426": "Greenberg dysplasia", "ORPHA:141184": "Rapidly involuting congenital hemangioma", "ORPHA:1427": "Autosomal recessive otospondylomegaepiphyseal dysplasia", "ORPHA:1435": "Xq21 microdeletion syndrome", "ORPHA:141219": "Nasal dorsum fistula", "ORPHA:1436": "X-linked skeletal dysplasia-intellectual disability syndrome", "ORPHA:141214": "Isolated congenital syngnathia", "ORPHA:141209": "Diffuse lymphatic malformation", "ORPHA:1432": "Autosomal dominant chorioretinopathy-microcephaly syndrome", "ORPHA:1433": "Choroidal atrophy-alopecia syndrome", "ORPHA:155832": "Rare head and neck malformation", "ORPHA:1484": "Contractures-ectodermal dysplasia-cleft lip/palate syndrome", "ORPHA:155835": "Cysts and fistulae of the face and oral cavity", "ORPHA:141333": "Biemond syndrome type 2", "ORPHA:155878": "Submucosal cleft palate", "ORPHA:1490": "Corneal dystrophy-perceptive deafness syndrome", "ORPHA:1487": "Cooks syndrome", "ORPHA:155838": "Pinnae fistula or cyst", "ORPHA:155867": "Paramedian facial cleft", "ORPHA:1486": "Lethal congenital contracture syndrome type 1", "ORPHA:141276": "Tessier number 7 facial cleft", "ORPHA:141265": "Tessier number 6 facial cleft", "ORPHA:1466": "COFS syndrome", "ORPHA:141269": "Lateral facial cleft", "ORPHA:141327": "OBSOLETE: Orofaciodigital syndrome type 12", "ORPHA:141330": "OBSOLETE: Orofaciodigital syndrome type 13", "ORPHA:1471": "Coloboma of macula-brachydactyly type B syndrome", "ORPHA:141288": "Midline cervical cleft", "ORPHA:141291": "Cleft lip and alveolus", "ORPHA:141091": "Polyrrhinia", "ORPHA:1408": "Hair defect-photosensitivity-intellectual disability syndrome", "ORPHA:1409": "Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome", "ORPHA:141083": "Nasolacrimal duct cyst", "ORPHA:1410": "Uncombable hair syndrome", "ORPHA:141099": "Proboscis lateralis", "ORPHA:141096": "Supernumerary nostril", "ORPHA:1412": "Tarsal-carpal coalition syndrome", "ORPHA:141107": "Nasopharyngeal teratoma", "ORPHA:141103": "Nasal dermoid cyst", "ORPHA:141115": "Nasal ganglioglioma", "ORPHA:1416": "Familial calcium pyrophosphate deposition", "ORPHA:141112": "Nasal glial heterotopia", "ORPHA:1394": "Cerebrofaciothoracic dysplasia", "ORPHA:141051": "Facial dermoid cyst", "ORPHA:141064": "Isolated lower lip fistula", "ORPHA:1396": "OBSOLETE: Cerebrorenodigital syndrome", "ORPHA:141061": "Commissural lip fistula", "ORPHA:141071": "Digestive duplication cyst of the tongue", "ORPHA:1397": "Hydrocephaly-cerebellar agenesis syndrome", "ORPHA:141067": "Cervicofacial fibrochondroma", "ORPHA:1398": "Isolated cerebellar agenesis", "ORPHA:1399": "Richards-Rundle syndrome", "ORPHA:141077": "Epignathus", "ORPHA:1401": "CHAND syndrome", "ORPHA:141074": "External auditory canal aplasia/hypoplasia", "ORPHA:141152": "Isolated congenital hypoglossia/aglossia", "ORPHA:174": "Metaphyseal chondrodysplasia, Schmid type", "ORPHA:141163": "Glossopalatine ankylosis", "ORPHA:141168": "Frontonasal arteriovenous malformation", "ORPHA:141171": "Maxillary arteriovenous malformation", "ORPHA:1425": "Desbuquois syndrome", "ORPHA:141174": "Mandibular arteriovenous malformation", "ORPHA:141179": "Non-involuting congenital hemangioma", "ORPHA:141118": "Nasal encephalocele", "ORPHA:1420": "OBSOLETE: Lethal chondrodysplasia, Moerman type", "ORPHA:141121": "Congenital subglottic stenosis", "ORPHA:141124": "Congenital laryngeal cyst", "ORPHA:1421": "OBSOLETE: Lethal chondrodysplasia, Seller type", "ORPHA:141127": "Congenital tracheal stenosis", "ORPHA:141132": "Oculo-auriculo-vertebral spectrum", "ORPHA:141136": "Otomandibular syndrome", "ORPHA:141145": "Hemifacial hyperplasia", "ORPHA:141148": "Hemifacial myohyperplasia", "ORPHA:156728": "Spondyloepimetaphyseal dysplasia, matrilin-3 type", "ORPHA:1375": "Cataract-hypertrichosis-intellectual disability syndrome", "ORPHA:156723": "Piepkorn dysplasia", "ORPHA:1376": "OBSOLETE: Congenital cataract-ichthyosis syndrome", "ORPHA:163": "Hereditary hyperferritinemia-cataract syndrome", "ORPHA:156643": "Genetic endocrine growth disease", "ORPHA:156638": "Rare genetic endocrine disease", "ORPHA:156629": "Rare genetic cause of hypertension", "ORPHA:1373": "Cataract-aberrant oral frenula-growth delay syndrome", "ORPHA:156622": "Genetic urogenital tract malformation", "ORPHA:156619": "Rare genetic urogenital disease", "ORPHA:1368": "Cataract-ataxia-deafness syndrome", "ORPHA:156610": "Rare genetic respiratory disease", "ORPHA:1366": "Autosomal recessive palmoplantar keratoderma and congenital alopecia", "ORPHA:156607": "Genetic biliary tract disease", "ORPHA:156604": "Genetic parenchymatous liver disease", "ORPHA:156601": "Rare genetic hepatic disease", "ORPHA:156532": "Rare syndrome with cardiac malformations", "ORPHA:156252": "Tracheal anomaly", "ORPHA:1361": "Carnosinase deficiency", "ORPHA:1393": "Cerebrocostomandibular syndrome", "ORPHA:157823": "Klüver-Bucy syndrome", "ORPHA:157826": "Congenital epulis", "ORPHA:157808": "Isolated pseudoarthrosis of the limbs", "ORPHA:1390": "Night blindness-skeletal anomalies-dysmorphism syndrome", "ORPHA:157820": "Cold-induced sweating syndrome", "ORPHA:1389": "Cortical blindness-intellectual disability-polydactyly syndrome", "ORPHA:157798": "Serrated polyposis syndrome", "ORPHA:1388": "Catel-Manzke syndrome", "ORPHA:157801": "Mesoaxial synostotic syndactyly with phalangeal reduction", "ORPHA:1387": "Cataract-intellectual disability-hypogonadism syndrome", "ORPHA:157791": "Epithelioid hemangioendothelioma", "ORPHA:157794": "Hereditary mixed polyposis syndrome", "ORPHA:157769": "Situs ambiguus", "ORPHA:157788": "Hypospadias-hypertelorism-coloboma and deafness syndrome", "ORPHA:157716": "Late infantile CACH syndrome", "ORPHA:1381": "Cataract-intellectual disability-anal atresia-urinary defects syndrome", "ORPHA:157719": "Juvenile or adult CACH syndrome", "ORPHA:1380": "Cataract-nephropathy-encephalopathy syndrome", "ORPHA:157713": "Congenital or early infantile CACH syndrome", "ORPHA:156731": "Dyssegmental dysplasia, Rolland-Desbuquois type", "ORPHA:1377": "Cataract-microcornea syndrome", "ORPHA:157215": "Hereditary hypophosphatemic rickets with hypercalciuria", "ORPHA:1325": "Camptodactyly-taurinuria syndrome", "ORPHA:156159": "Isolated dystonia", "ORPHA:1326": "Camptodactyly syndrome, Guadalajara type 2", "ORPHA:156156": "Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy", "ORPHA:156165": "Retinal ciliopathy", "ORPHA:1327": "Camptodactyly syndrome, Guadalajara type 1", "ORPHA:156162": "Renal ciliopathy", "ORPHA:1328": "Camurati-Engelmann disease", "ORPHA:156146": "Predominantly small-vessel vasculitis", "ORPHA:1321": "Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome", "ORPHA:156143": "Predominantly medium-vessel vasculitis", "ORPHA:1323": "Camptodactyly-joint contractures-facial skeletal defects syndrome", "ORPHA:156152": "Anti-neutrophil cytoplasmic antibody-associated vasculitis", "ORPHA:156149": "Immune complex mediated vasculitis", "ORPHA:1314": "Symmetrical thalamic calcifications", "ORPHA:156071": "OBSOLETE: Keratoconus", "ORPHA:156005": "Primary early-onset glaucoma", "ORPHA:1317": "CAMFAK syndrome", "ORPHA:156140": "Predominantly large-vessel vasculitis", "ORPHA:1318": "Campomelia, Cumming type", "ORPHA:1319": "Camptobrachydactyly", "ORPHA:155889": "Coloboma of inferior eyelid", "ORPHA:1305": "Feingold syndrome", "ORPHA:1307": "Distal limb deficiencies-micrognathia syndrome", "ORPHA:155884": "Coloboma of superior eyelid", "ORPHA:155899": "Mandibulofacial dysostosis", "ORPHA:155896": "Otomandibular dysplasia", "ORPHA:1313": "Infantile choroidocerebral calcification syndrome", "ORPHA:156237": "Syndrome or malformation associated with head and neck malformations", "ORPHA:1350": "Heart-hand syndrome type 2", "ORPHA:156243": "Pinnae and external auditory canal anomaly", "ORPHA:156246": "Nose and cavum anomaly", "ORPHA:1355": "Congenital heart defect-round face-developmental delay syndrome", "ORPHA:1352": "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome", "ORPHA:156249": "Larynx anomaly", "ORPHA:156212": "Hypoglossia/aglossia", "ORPHA:1342": "Heart-hand syndrome type 3", "ORPHA:156215": "Oromandibular-limb anomalies syndrome", "ORPHA:156224": "Paralytic facial malformation", "ORPHA:1345": "Cardiomyopathy-cataract-hip spine disease syndrome", "ORPHA:156230": "Facial arteriovenous malformation", "ORPHA:156180": "Retinal ciliopathy due to mutation in nephronophthisis gene", "ORPHA:1338": "Heart defect-tongue hamartoma-polysyndactyly syndrome", "ORPHA:156183": "Retinal ciliopathy due to mutation in Bardet-Biedl gene", "ORPHA:156202": "Otomandibular dysplasia associated with monogenic syndromes", "ORPHA:1340": "Cardiofaciocutaneous syndrome", "ORPHA:1339": "OBSOLETE: Cranioacrofacial syndrome", "ORPHA:156207": "Macroglossia", "ORPHA:156168": "Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene", "ORPHA:2856": "Persistent Müllerian duct syndrome", "ORPHA:156171": "Retinal ciliopathy due to mutation in the RPGR gene", "ORPHA:156174": "Retinal ciliopathy due to mutation in the RPGRIP gene", "ORPHA:1336": "Hyperkeratosis-hyperpigmentation syndrome", "ORPHA:156177": "Retinal ciliopathy due to mutation in Usher gene", "ORPHA:1335": "Pentalogy of Cantrell", "ORPHA:1683": "Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome", "ORPHA:1682": "Arterial dissection-lentiginosis syndrome", "ORPHA:1680": "OBSOLETE: Spastic diplegia, infantile type", "ORPHA:1678": "Dincsoy-Salih-Patel syndrome", "ORPHA:1757": "Fibular dimelia-diplopodia syndrome", "ORPHA:1756": "Caudal duplication", "ORPHA:1767": "Familial progressive vestibulocochlear dysfunction", "ORPHA:1765": "OBSOLETE: Dyschondrosteosis-nephritis syndrome", "ORPHA:140162": "Inherited cancer-predisposing syndrome", "ORPHA:1766": "Dysequilibrium syndrome", "ORPHA:1777": "Temtamy syndrome", "ORPHA:1780": "Thakker-Donnai syndrome", "ORPHA:1772": "45,X/46,XY mixed gonadal dysgenesis", "ORPHA:1784": "Acrofrontofacionasal dysostosis", "ORPHA:1782": "Dysosteosclerosis", "ORPHA:1790": "Hypomandibular faciocranial dysostosis", "ORPHA:1792": "Humerospinal dysostosis", "ORPHA:1786": "Acrofacial dysostosis, Catania type", "ORPHA:1788": "Acrofacial dysostosis, Rodríguez type", "ORPHA:859": "Transcobalamin deficiency", "ORPHA:139441": "Hypomyelination with atrophy of basal ganglia and cerebellum", "ORPHA:3196": "Steroid dehydrogenase deficiency-dental anomalies syndrome", "ORPHA:139444": "Leukoencephalopathy with bilateral anterior temporal lobe cysts", "ORPHA:139447": "Progressive cavitating leukoencephalopathy", "ORPHA:1573": "Hypotrichosis with juvenile macular degeneration", "ORPHA:726": "Alpers-Huttenlocher syndrome", "ORPHA:139450": "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome", "ORPHA:1575": "OBSOLETE: Infantile striatothalamic degeneration", "ORPHA:139455": "Autosomal recessive bestrophinopathy", "ORPHA:1574": "Retinal degeneration-nanophthalmos-glaucoma syndrome", "ORPHA:139466": "SERKAL syndrome", "ORPHA:1577": "OBSOLETE: Infantile thalamic degeneration", "ORPHA:1596": "Distal deletion 15q syndrome", "ORPHA:139471": "Microphthalmia with brain and digit anomalies", "ORPHA:139474": "17q11.2 microduplication syndrome", "ORPHA:139477": "Al-Gazali-Dattani syndrome", "ORPHA:1617": "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion", "ORPHA:1606": "1p36 deletion syndrome", "ORPHA:139480": "Autosomal recessive spastic paraplegia type 39", "ORPHA:1647": "Oculocerebrocutaneous syndrome", "ORPHA:139485": "Autosomal recessive ataxia due to ubiquinone deficiency", "ORPHA:139491": "OBSOLETE: Hemochromatosis type 4", "ORPHA:139498": "NON RARE IN EUROPE: Hemochromatosis type 1", "ORPHA:1653": "Dentin dysplasia", "ORPHA:1651": "OBSOLETE: Dennis-Cohen syndrome", "ORPHA:139507": "Dietary iron overload disease", "ORPHA:1654": "OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome", "ORPHA:139515": "Charcot-Marie-Tooth disease type 4J", "ORPHA:139512": "Neuropathy with hearing impairment", "ORPHA:1657": "Dermatoosteolysis, Kirghizian type", "ORPHA:139525": "Distal hereditary motor neuropathy type 2", "ORPHA:1658": "Absence of fingerprints-congenital milia syndrome", "ORPHA:139518": "Distal hereditary motor neuropathy type 1", "ORPHA:1659": "Dermatoleukodystrophy", "ORPHA:139547": "Distal spinal muscular atrophy type 3", "ORPHA:139536": "Distal hereditary motor neuropathy type 5", "ORPHA:1660": "Dermoodontodysplasia", "ORPHA:139557": "X-linked distal spinal muscular atrophy type 3", "ORPHA:1661": "X-linked corneal dermoid", "ORPHA:1662": "Restrictive dermopathy", "ORPHA:139552": "Distal hereditary motor neuropathy, Jerash type", "ORPHA:139573": "Hereditary sensory and autonomic neuropathy with deafness and global delay", "ORPHA:1665": "Sporadic fetal brain disruption sequence", "ORPHA:139564": "Hereditary sensory and autonomic neuropathy type 1B", "ORPHA:139583": "X-linked hereditary sensory and autonomic neuropathy with deafness", "ORPHA:1667": "Wolcott-Rallison syndrome", "ORPHA:139578": "Mutilating hereditary sensory neuropathy with spastic paraplegia", "ORPHA:139589": "Distal hereditary motor neuropathy type 7", "ORPHA:1671": "Split cord malformation type I", "ORPHA:1674": "Digitorenocerebral syndrome", "ORPHA:140917": "Stapes ankylosis with broad thumbs and toes", "ORPHA:1548": "Cryptorchidism-arachnodactyly-intellectual disability syndrome", "ORPHA:1547": "Cryptomicrotia-brachydactyly-excess fingertip arch syndrome", "ORPHA:140922": "Titin-related limb-girdle muscular dystrophy R10", "ORPHA:1545": "Crisponi syndrome", "ORPHA:140905": "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency", "ORPHA:1540": "Jackson-Weiss syndrome", "ORPHA:1535": "Craniosynostosis-dysmorphism-brachydactyly syndrome", "ORPHA:140908": "Brachydactyly type B2", "ORPHA:1533": "OBSOLETE: Craniosynostosis-fibular aplasia syndrome", "ORPHA:140874": "Joubert syndrome and related disorders", "ORPHA:140896": "Severe acute respiratory syndrome", "ORPHA:1532": "Gómez-López-Hernández syndrome", "ORPHA:140952": "Syndactyly-telecanthus-anogenital and renal malformations syndrome", "ORPHA:140957": "Autosomal dominant macrothrombocytopenia", "ORPHA:140944": "CLOVES syndrome", "ORPHA:140949": "Low-flow priapism", "ORPHA:1555": "Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "ORPHA:140936": "Lelis syndrome", "ORPHA:140941": "Short stature due to primary acid-labile subunit deficiency", "ORPHA:1553": "Curry-Jones syndrome", "ORPHA:140927": "Self-limited neonatal-infantile epilepsy", "ORPHA:140933": "Linear atrophoderma of Moulin", "ORPHA:140989": "Primary angiitis of the central nervous system", "ORPHA:1566": "Dandy-Walker malformation-postaxial polydactyly syndrome", "ORPHA:140976": "RHYNS syndrome", "ORPHA:1563": "Dahlberg-Borer-Newcomer syndrome", "ORPHA:140969": "Saldino-Mainzer syndrome", "ORPHA:140966": "Palmoplantar keratoderma, Nagashima type", "ORPHA:1562": "OBSOLETE: Dacryocystitis-osteopoikilosis syndrome", "ORPHA:140963": "Bilateral microtia-deafness-cleft palate syndrome", "ORPHA:1557": "Cutis verticis gyrata-intellectual disability syndrome", "ORPHA:141046": "Cervical dermoid cyst", "ORPHA:382": "Guanidinoacetate methyltransferase deficiency", "ORPHA:742": "Prolidase deficiency", "ORPHA:141037": "Fourth branchial cleft anomaly", "ORPHA:141030": "Third branchial cleft anomaly", "ORPHA:141022": "Second branchial cleft anomaly", "ORPHA:1979": "Lipodystrophy due to peptidic growth factors deficiency", "ORPHA:141013": "First branchial cleft anomaly", "ORPHA:1571": "Knobloch syndrome", "ORPHA:141007": "Orofaciodigital syndrome type 9", "ORPHA:1551": "Familial benign copper deficiency", "ORPHA:1568": "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome", "ORPHA:141000": "Orofaciodigital syndrome type 11", "ORPHA:140997": "Orofaciodigital syndrome", "ORPHA:1569": "De Sanctis-Cacchione syndrome", "ORPHA:1499": "OBSOLETE: Cortada-Koussef-Matsumoto syndrome", "ORPHA:140432": "OBSOLETE: Hereditary iron overload with anemia", "ORPHA:1497": "X-linked complicated corpus callosum dysgenesis", "ORPHA:140436": "Primary intraosseous venous malformation", "ORPHA:140450": "OBSOLETE: Hereditary motor and sensory neuropathy", "ORPHA:140453": "Autosomal dominant hereditary demyelinating motor and sensory neuropathy", "ORPHA:1493": "Vici syndrome", "ORPHA:140286": "Secondary hypoparathyroidism due to impaired parathormon secretion", "ORPHA:1495": "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome", "ORPHA:140428": "OBSOLETE: Hereditary iron overload with neurologic manifestation", "ORPHA:140468": "Autosomal recessive distal hereditary motor neuropathy", "ORPHA:1509": "Coxopodopatellar syndrome", "ORPHA:140471": "Hereditary sensory and autonomic neuropathy", "ORPHA:1512": "Crane-Heise syndrome", "ORPHA:140474": "Autosomal dominant hereditary sensory and autonomic neuropathy", "ORPHA:140477": "Autosomal recessive hereditary sensory and autonomic neuropathy", "ORPHA:1506": "Thin ribs-tubular bones-dysmorphism syndrome", "ORPHA:140456": "Autosomal dominant hereditary axonal motor and sensory neuropathy", "ORPHA:140459": "Autosomal recessive hereditary demyelinating motor and sensory neuropathy", "ORPHA:140462": "OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy", "ORPHA:1508": "Coxoauricular syndrome", "ORPHA:140465": "Autosomal dominant distal hereditary motor neuropathy", "ORPHA:1507": "Autosomal recessive Robinow syndrome", "ORPHA:1517": "Cantú syndrome", "ORPHA:140503": "OBSOLETE: Channelopathy", "ORPHA:1519": "SPECC1L-related hypertelorism syndrome", "ORPHA:1520": "Craniofrontonasal dysplasia", "ORPHA:1513": "Craniodiaphyseal dysplasia", "ORPHA:1514": "Craniodigital-intellectual disability syndrome", "ORPHA:140481": "Autosomal dominant slowed nerve conduction velocity", "ORPHA:140500": "OBSOLETE: Neurological channelopathy", "ORPHA:1515": "Cranioectodermal dysplasia", "ORPHA:1516": "Non-syndromic bilambdoid and sagittal craniosynostosis", "ORPHA:1526": "OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome", "ORPHA:1527": "Craniosynostosis, Philadelphia type", "ORPHA:140653": "Neuro-ophthalmological disease", "ORPHA:1528": "Craniotelencephalic dysplasia", "ORPHA:1529": "Craniofacial-deafness-hand syndrome", "ORPHA:1521": "Craniofrontonasal dysplasia-Poland anomaly syndrome", "ORPHA:1522": "Craniometaphyseal dysplasia", "ORPHA:1525": "Cranio-osteoarthropathy", "ORPHA:1969": "Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome", "ORPHA:1968": "Flat face-microstomia-ear anomaly syndrome", "ORPHA:1970": "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome", "ORPHA:1973": "Faciocardiorenal syndrome", "ORPHA:1972": "Lethal faciocardiomelic dysplasia", "ORPHA:1974": "Autosomal recessive faciodigitogenital syndrome", "ORPHA:1962": "Exostoses-anetodermia-brachydactyly type E syndrome", "ORPHA:1964": "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome", "ORPHA:1822": "Dysplasia epiphysealis hemimelica", "ORPHA:1824": "Lowry-Wood syndrome", "ORPHA:1952": "Epiphyseal stippling-osteoclastic hyperplasia syndrome", "ORPHA:1954": "Congenital lethal erythroderma", "ORPHA:1955": "Spinocerebellar ataxia type 34", "ORPHA:1956": "OBSOLETE: Erythromelalgia", "ORPHA:1926": "Diabetic embryopathy", "ORPHA:2209": "Maternal phenylketonuria", "ORPHA:1927": "Emery-Nelson syndrome", "ORPHA:1937": "Eng-Strom syndrome", "ORPHA:1940": "Shoulder and thorax deformity-congenital heart disease syndrome", "ORPHA:1920": "Toluene embryopathy", "ORPHA:1919": "Phenobarbital embryopathy", "ORPHA:1917": "Fetal methylmercury syndrome", "ORPHA:1923": "Methimazole embryofetopathy", "ORPHA:1912": "Fetal hydantoin syndrome", "ORPHA:1918": "Fetal minoxidil syndrome", "ORPHA:1911": "Cocaine embryofetopathy", "ORPHA:1910": "Fetal iodine syndrome", "ORPHA:1916": "Diethylstilbestrol syndrome", "ORPHA:294": "Fetal cytomegalovirus syndrome", "ORPHA:1914": "Vitamin K antagonist embryofetopathy", "ORPHA:1913": "Fetal trimethadione syndrome", "ORPHA:1896": "EEC syndrome", "ORPHA:1897": "EEM syndrome", "ORPHA:1908": "Aminopterin/methotrexate embryofetopathy", "ORPHA:1909": "Indomethacin embryofetopathy", "ORPHA:1906": "Fetal valproate spectrum disorder", "ORPHA:1888": "Ectrodactyly-ectodermal dysplasia without clefting syndrome", "ORPHA:1889": "Ectrodactyly-cleft palate syndrome", "ORPHA:1895": "Edinburgh malformation syndrome", "ORPHA:1891": "Intellectual disability-spasticity-ectrodactyly syndrome", "ORPHA:1892": "Ectrodactyly-polydactyly syndrome", "ORPHA:1816": "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome", "ORPHA:1807": "Focal facial dermal dysplasia type III", "ORPHA:1818": "Ectodermal dysplasia, trichoodontoonychial type", "ORPHA:1883": "Ectodermal dysplasia-sensorineural deafness syndrome", "ORPHA:1882": "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome", "ORPHA:1875": "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome", "ORPHA:1873": "Jalili syndrome", "ORPHA:1879": "Melorheostosis with osteopoikilosis", "ORPHA:1867": "Hereditary bullous dystrophy, macular type", "ORPHA:1872": "Cone rod dystrophy", "ORPHA:1871": "Progressive cone dystrophy", "ORPHA:1860": "Thanatophoric dysplasia type 1", "ORPHA:1861": "Thoracic dysplasia-hydrocephalus syndrome", "ORPHA:1865": "Dyssegmental dysplasia, Silverman-Handmaker type", "ORPHA:1858": "Skeletal dysplasia-epilepsy-short stature syndrome", "ORPHA:254": "Spondylometaphyseal dysplasia", "ORPHA:1850": "Renal dysplasia-megalocystis-sirenomelia syndrome", "ORPHA:1852": "X-linked retinal dysplasia", "ORPHA:1842": "Bone dysplasia, lethal Holmgren type", "ORPHA:1839": "Hereditary mucoepithelial dysplasia", "ORPHA:1838": "Metaphyseal dysplasia without hypotrichosis", "ORPHA:1837": "Metaphyseal chondrodysplasia, Rosenberg type", "ORPHA:1836": "Mesomelic dysplasia, Kantaputra type", "ORPHA:1834": "Axial mesodermal dysplasia spectrum", "ORPHA:1831": "De Hauwere syndrome", "ORPHA:1830": "Schimke immuno-osseous dysplasia", "ORPHA:1825": "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome", "ORPHA:251": "Multiple epiphyseal dysplasia", "ORPHA:1823": "OBSOLETE: Localized epiphyseal dysplasia", "ORPHA:1811": "Odontomicronychial dysplasia", "ORPHA:1812": "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome", "ORPHA:1808": "Hidrotic ectodermal dysplasia, Christianson-Fourie type", "ORPHA:1809": "Hidrotic ectodermal dysplasia, Halal type", "ORPHA:1804": "Dyssegmental dysplasia-glaucoma syndrome", "ORPHA:1806": "Ectodermal dysplasia-blindness syndrome", "ORPHA:1802": "Ghosal hematodiaphyseal dysplasia", "ORPHA:1803": "Thoracomelic dysplasia", "ORPHA:1800": "OBSOLETE: Craniofaciocervical osteoglyphic dysplasia", "ORPHA:1801": "Kyphomelic dysplasia", "ORPHA:1798": "Craniofacial dysostosis-diaphyseal hyperplasia syndrome", "ORPHA:1799": "Familial developmental dysphasia", "ORPHA:1794": "Oculomaxillofacial dysostosis", "ORPHA:2128": "Isolated hemihyperplasia", "ORPHA:2129": "OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome", "ORPHA:2130": "Non-syndromic hemimelia", "ORPHA:2136": "Hennekam syndrome", "ORPHA:2138": "46,XX ovotesticular difference of sex development", "ORPHA:2139": "Hernández-Aguirre Negrete syndrome", "ORPHA:2141": "Diaphragmatic defect-limb deficiency-skull defect syndrome", "ORPHA:2143": "Donnai-Barrow syndrome", "ORPHA:2145": "Craniosynostosis, Herrmann-Opitz type", "ORPHA:2149": "Nodular neuronal heterotopia", "ORPHA:2148": "Lissencephaly type 1 due to doublecortin gene mutation", "ORPHA:158048": "Hemophagocytic syndrome associated with an infection", "ORPHA:158057": "Acquired hemophagocytic lymphohistiocytosis associated with malignant disease", "ORPHA:2108": "Hallermann-Streiff syndrome", "ORPHA:158061": "Macrophage activation syndrome", "ORPHA:2107": "Hall-Riggs syndrome", "ORPHA:2110": "Hallux varus-preaxial polysyndactyly syndrome", "ORPHA:2109": "Hallermann-Streiff-like syndrome", "ORPHA:2112": "OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome", "ORPHA:2111": "Cystic hamartoma of lung and kidney", "ORPHA:158124": "Genetic dementia", "ORPHA:158266": "Huntington disease-like syndrome", "ORPHA:2115": "Harrod syndrome", "ORPHA:158300": "Rare genetic hematologic disease", "ORPHA:2114": "Hip dysplasia, Beukes type", "ORPHA:2994": "Short stature-craniofacial anomalies-genital hypoplasia syndrome", "ORPHA:2117": "Hartsfield syndrome", "ORPHA:2120": "OBSOLETE: Heckenlively syndrome", "ORPHA:2119": "HEC syndrome", "ORPHA:2124": "Cavernous hemangiomas of face-supraumbilical midline raphe syndrome", "ORPHA:2123": "Multifocal infantile hemangioma with extracutenous involvement", "ORPHA:157997": "Benign cephalic histiocytosis", "ORPHA:2090": "GMS syndrome", "ORPHA:157991": "Generalized eruptive histiocytosis", "ORPHA:2091": "Multinodular goiter-cystic kidney-polydactyly syndrome", "ORPHA:157987": "Non-Langerhans cell histiocytosis", "ORPHA:2087": "Glomerulonephritis-sparse hair-telangiectasis syndrome", "ORPHA:158011": "Necrobiotic xanthogranuloma", "ORPHA:158008": "Papular xanthoma", "ORPHA:376": "Gordon syndrome", "ORPHA:158003": "Xanthoma disseminatum", "ORPHA:2092": "Focal dermal hypoplasia", "ORPHA:158000": "Juvenile xanthogranuloma", "ORPHA:2098": "Acromesomelic dysplasia, Grebe type", "ORPHA:158025": "Hereditary progressive mucinous histiocytosis", "ORPHA:158022": "Progressive nodular histiocytosis", "ORPHA:380": "Greig cephalopolysyndactyly syndrome", "ORPHA:2095": "Gorlin-Chaudhry-Moss syndrome", "ORPHA:158019": "Indeterminate cell histiocytosis", "ORPHA:158014": "Rosaï-Dorfman disease", "ORPHA:2097": "Grant syndrome", "ORPHA:158041": "Secondary hemophagocytic lymphohistiocytosis", "ORPHA:2101": "Grubben-de Cock-Borghgraef syndrome", "ORPHA:158038": "Primary hemophagocytic lymphohistiocytosis", "ORPHA:2104": "Dysmorphism-pectus carinatum-joint laxity syndrome", "ORPHA:2099": "OBSOLETE: Grix-Blankenship-Peterson syndrome", "ORPHA:158032": "Hemophagocytic syndrome", "ORPHA:158029": "Sea-blue histiocytosis", "ORPHA:157843": "Trigeminal autonomic cephalalgia", "ORPHA:2069": "Gastrocutaneous syndrome", "ORPHA:157846": "Neuroferritinopathy", "ORPHA:157832": "Craniorhiny", "ORPHA:2067": "GAPO syndrome", "ORPHA:157835": "Paroxysmal hemicrania", "ORPHA:2065": "Galloway-Mowat syndrome", "ORPHA:2075": "Genitopalatocardiac syndrome", "ORPHA:157941": "Huntington disease-like 1", "ORPHA:2074": "Gemignani syndrome", "ORPHA:157850": "Pantothenate kinase-associated neurodegeneration", "ORPHA:2072": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "ORPHA:157855": "HARP syndrome", "ORPHA:157954": "ANE syndrome", "ORPHA:157962": "Oculoauricular syndrome, Schorderet type", "ORPHA:157946": "Huntington disease-like 3", "ORPHA:2078": "Geroderma osteodysplastica", "ORPHA:157949": "Combined immunodeficiency with granulomatosis", "ORPHA:2077": "German syndrome", "ORPHA:157973": "Congenital muscular dystrophy due to LMNA mutation", "ORPHA:2085": "Glaucoma-sleep apnea syndrome", "ORPHA:157980": "NON RARE IN EUROPE: Bladder cancer", "ORPHA:2084": "Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome", "ORPHA:157965": "SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome", "ORPHA:2083": "Prominent glabella-microcephaly-hypogenitalism syndrome", "ORPHA:2081": "Cerebral gigantism-jaw cysts syndrome", "ORPHA:2051": "Fraser-like syndrome", "ORPHA:2055": "Growth deficiency-brachydactyly-dysmorphism syndrome", "ORPHA:1791": "Frontofacionasal dysplasia", "ORPHA:1826": "Frontometaphyseal dysplasia", "ORPHA:2047": "Flynn-Aird syndrome", "ORPHA:2048": "Foix-Chavany-Marie syndrome", "ORPHA:2050": "Cole-Carpenter syndrome", "ORPHA:2060": "Fukuda-Miyanomae-Nakata syndrome", "ORPHA:2063": "Splenogonadal fusion-limb defects-micrognathia syndrome", "ORPHA:2064": "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome", "ORPHA:250": "Frontonasal dysplasia", "ORPHA:2057": "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome", "ORPHA:2059": "Fryns syndrome", "ORPHA:2026": "Gingival fibromatosis-hypertrichosis syndrome", "ORPHA:2025": "Gingival fibromatosis-facial dysmorphism syndrome", "ORPHA:2028": "Juvenile hyaline fibromatosis", "ORPHA:2027": "Gingival fibromatosis-progressive deafness syndrome", "ORPHA:158796": "OBSOLETE: Classic mast cell leukemia", "ORPHA:2021": "Fibrochondrogenesis", "ORPHA:158799": "OBSOLETE: Aleukemic mast cell leukemia", "ORPHA:2019": "Femur-fibula-ulna complex", "ORPHA:2024": "Hereditary gingival fibromatosis", "ORPHA:2022": "Endocardial fibroelastosis", "ORPHA:2824": "Paraplegia-intellectual disability-hyperkeratosis syndrome", "ORPHA:2045": "FLOTCH syndrome", "ORPHA:2044": "Floating-Harbor syndrome", "ORPHA:2031": "Hepatic fibrosis-renal cysts-intellectual disability syndrome", "ORPHA:2029": "Multiple non-ossifying fibromatosis", "ORPHA:2042": "OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome", "ORPHA:2036": "Scalp-ear-nipple syndrome", "ORPHA:158769": "Plaque-form urticaria pigmentosa", "ORPHA:2006": "Median cleft lip/mandible", "ORPHA:158766": "Typical urticaria pigmentosa", "ORPHA:2007": "Alar cartilages hypoplasia-coloboma-telecanthus syndrome", "ORPHA:2003": "Cleft lip/palate-deafness-sacral lipoma syndrome", "ORPHA:158687": "Lethal acantholytic erosive disorder", "ORPHA:158684": "Epidermolysis bullosa simplex with pyloric atresia", "ORPHA:2004": "Laryngotracheoesophageal cleft", "ORPHA:2001": "Cleft lip/palate-intestinal malrotation-cardiopathy syndrome", "ORPHA:158681": "Epidermolysis bullosa simplex with circinate migratory erythema", "ORPHA:158676": "Localized dystrophic epidermolysis bullosa, nails only", "ORPHA:158673": "Localized dystrophic epidermolysis bullosa, acral form", "ORPHA:158668": "Ectodermal dysplasia-skin fragility syndrome", "ORPHA:2016": "Cleft palate-lateral synechia syndrome", "ORPHA:158793": "OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia", "ORPHA:2017": "Sternal cleft", "ORPHA:2013": "Cleft palate-large ears-small head syndrome", "ORPHA:2010": "Cleft palate-stapes fixation-oligodontia syndrome", "ORPHA:158778": "Isolated bone marrow mastocytosis", "ORPHA:158775": "Smoldering systemic mastocytosis", "ORPHA:158772": "Nodular urticaria pigmentosa", "ORPHA:2008": "Acrocardiofacial syndrome", "ORPHA:1987": "Isolated femoral agenesis/hypoplasia", "ORPHA:1986": "Gollop-Wolfgang complex", "ORPHA:1984": "Fechtner syndrome", "ORPHA:1980": "Bilateral striopallidodentate calcinosis", "ORPHA:158661": "OBSOLETE: Suprabasal epidermolysis bullosa simplex", "ORPHA:158665": "OBSOLETE: Basal epidermolysis bullosa simplex", "ORPHA:1997": "Blepharo-cheilo-odontic syndrome", "ORPHA:1995": "Cleft lip-retinopathy syndrome", "ORPHA:1993": "Pai syndrome", "ORPHA:1988": "Femoral-facial syndrome", "ORPHA:2348": "Familial partial lipodystrophy, Dunnigan type", "ORPHA:247775": "Mayer-Rokitansky-Küster-Hauser syndrome type 1", "ORPHA:2351": "Kousseff syndrome", "ORPHA:247768": "Müllerian aplasia and hyperandrogenism", "ORPHA:2353": "Schilbach-Rott syndrome", "ORPHA:247790": "FTH1-related iron overload", "ORPHA:247798": "MUTYH-related attenuated familial adenomatous polyposis", "ORPHA:2355": "Kumar-Levick syndrome", "ORPHA:247794": "Juvenile cataract-microcornea-renal glucosuria syndrome", "ORPHA:247815": "Autosomal recessive ataxia due to PEX10 deficiency", "ORPHA:247806": "APC-related attenuated familial adenomatous polyposis", "ORPHA:2363": "Lacrimoauriculodentodigital syndrome", "ORPHA:247691": "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations", "ORPHA:2340": "Keratosis follicularis spinulosa decalvans", "ORPHA:247685": "Odontohypophosphatasia", "ORPHA:2342": "Haim-Munk syndrome", "ORPHA:247709": "Multiple endocrine neoplasia type 2B", "ORPHA:247698": "Multiple endocrine neoplasia type 2A", "ORPHA:247724": "Idiopathic eosinophilic myositis", "ORPHA:247718": "Inflammatory myopathy with abundant macrophages", "ORPHA:247765": "X-linked cerebellar ataxia", "ORPHA:485": "Kniest dysplasia", "ORPHA:247762": "Lipoblastoma", "ORPHA:2347": "Lethal Kniest-like dysplasia", "ORPHA:247585": "Citrullinemia type II", "ORPHA:2333": "Kenny-Caffey syndrome", "ORPHA:247598": "Neonatal intrahepatic cholestasis due to citrin deficiency", "ORPHA:2332": "KBG syndrome", "ORPHA:247604": "Juvenile primary lateral sclerosis", "ORPHA:247623": "Perinatal lethal hypophosphatasia", "ORPHA:2335": "NON RARE IN EUROPE: Isolated keratoconus", "ORPHA:247638": "Prenatal benign hypophosphatasia", "ORPHA:2338": "Isolated punctate palmoplantar keratoderma", "ORPHA:2337": "Diffuse palmoplantar keratoderma, Bothnian type", "ORPHA:247651": "Infantile hypophosphatasia", "ORPHA:247667": "Childhood-onset hypophosphatasia", "ORPHA:2339": "Keratosis follicularis-dwarfism-cerebral atrophy syndrome", "ORPHA:247676": "Adult hypophosphatasia", "ORPHA:494": "Keratoderma hereditarium mutilans", "ORPHA:2322": "Kabuki syndrome", "ORPHA:247378": "Autosomal recessive secondary polycythemia not associated with VHL gene", "ORPHA:2321": "Jung syndrome", "ORPHA:2324": "Osteopenia-intellectual disability-sparse hair syndrome", "ORPHA:247511": "Autosomal dominant secondary polycythemia", "ORPHA:2323": "Sanjad-Sakati syndrome", "ORPHA:247522": "Primary ciliary dyskinesia-retinitis pigmentosa syndrome", "ORPHA:247525": "Citrullinemia type I", "ORPHA:247546": "Acute neonatal citrullinemia type I", "ORPHA:2325": "Epidermolysis bullosa simplex with anodontia/hypodontia", "ORPHA:247573": "Late-onset citrullinemia type I", "ORPHA:2329": "Karsch-Neugebauer syndrome", "ORPHA:247582": "Citrin deficiency", "ORPHA:2328": "Kapur-Toriello syndrome", "ORPHA:248404": "Rare thrombotic disorder due to an acquired platelet anomaly", "ORPHA:2408": "Lowe-Kohn-Cohen syndrome", "ORPHA:248401": "Rare thrombotic disorder due to a constitutional platelet anomaly", "ORPHA:2409": "Lowry-MacLean syndrome", "ORPHA:2405": "Thickened earlobes-conductive deafness syndrome", "ORPHA:248368": "Rare thrombotic disorder due to a platelet anomaly", "ORPHA:248365": "Rare thrombotic disorder due to an acquired coagulation factors defect", "ORPHA:2407": "Laryngo-onycho-cutaneous syndrome", "ORPHA:250165": "Genetic polycythemia", "ORPHA:2412": "Dislocation of the hip-dysmorphism syndrome", "ORPHA:2575": "Cystic fibrosis-gastritis-megaloblastic anemia syndrome", "ORPHA:248408": "Familial hypodysfibrinogenemia", "ORPHA:2410": "Hypergonadotropic hypogonadism-cataract syndrome", "ORPHA:248326": "Rare hemorrhagic disorder due to a platelet anomaly", "ORPHA:2399": "Nasopalpebral lipoma-coloboma syndrome", "ORPHA:248315": "Rare hemorrhagic disorder due to a coagulation factors defect", "ORPHA:2400": "Peripheral motor neuropathy-dysautonomia syndrome", "ORPHA:248308": "Rare hemorrhagic disorder", "ORPHA:248305": "OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency", "ORPHA:2396": "Encephalocraniocutaneous lipomatosis", "ORPHA:248361": "Rare thrombotic disorder due to a constitutional coagulation factors defect", "ORPHA:248358": "Rare thrombotic disorder due to a coagulation factors defect", "ORPHA:248347": "Rare hemorrhagic disorder due to an acquired platelet anomaly", "ORPHA:248340": "Isolated delta-storage pool disease", "ORPHA:2388": "Choreoacanthocytosis", "ORPHA:248111": "Juvenile Huntington disease", "ORPHA:2387": "Leukonychia totalis", "ORPHA:247871": "OBSOLETE: Vitiligo-associated autoimmune disease", "ORPHA:2386": "Leukoencephalopathy-palmoplantar keratoderma syndrome", "ORPHA:248095": "Primary hypertrophic osteoarthropathy", "ORPHA:2379": "Early-onset parkinsonism-intellectual disability syndrome", "ORPHA:248302": "Rare acquired deficiency anemia", "ORPHA:2391": "Congenitally short costocoracoid ligament", "ORPHA:248293": "Rare deficiency anemia", "ORPHA:2390": "Lichtenstein syndrome", "ORPHA:248296": "Constitutional deficiency anemia", "ORPHA:2389": "Lewis-Pashayan syndrome", "ORPHA:247834": "Occult macular dystrophy", "ORPHA:2371": "Lethal Larsen-like syndrome", "ORPHA:247839": "OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies", "ORPHA:2369": "Limb body wall complex", "ORPHA:247820": "Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome", "ORPHA:247827": "Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome", "ORPHA:247861": "OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies", "ORPHA:2378": "Laurin-Sandrow syndrome", "ORPHA:247868": "NLRP12-associated hereditary periodic fever syndrome", "ORPHA:247846": "OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies", "ORPHA:2375": "Laryngeal abductor paralysis-intellectual disability syndrome", "ORPHA:247854": "OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies", "ORPHA:2454": "OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome", "ORPHA:2456": "Familial supernumerary nipples", "ORPHA:2457": "Mandibuloacral dysplasia", "ORPHA:2451": "Mucocutaneous venous malformations", "ORPHA:2453": "Malpuech syndrome", "ORPHA:2439": "Patterson-Stevenson-Fontaine syndrome", "ORPHA:244305": "Dominant hypophosphatemia with nephrolithiasis or osteoporosis", "ORPHA:244283": "Biliary atresia with splenic malformation syndrome", "ORPHA:2440": "Isolated split hand-split foot malformation", "ORPHA:244310": "RFT1-CDG", "ORPHA:244242": "HELLP syndrome", "ORPHA:296": "Ollier disease", "ORPHA:2437": "Czeizel-Losonci syndrome", "ORPHA:244275": "De novo thrombotic microangiopathy after kidney transplantation", "ORPHA:2438": "Hand-foot-genital syndrome", "ORPHA:243343": "Dimethylglycine dehydrogenase deficiency", "ORPHA:1019": "Epstein syndrome", "ORPHA:243367": "Acute fatty liver of pregnancy", "ORPHA:243377": "NON RARE IN EUROPE: Diabetes mellitus type 1", "ORPHA:2435": "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome", "ORPHA:243761": "NON RARE IN EUROPE: Essential hypertension", "ORPHA:2429": "Macrocephaly-spastic paraplegia-dysmorphism syndrome", "ORPHA:2432": "Macrosomia-microphthalmia-cleft palate syndrome", "ORPHA:2419": "Lymphedema-ptosis syndrome", "ORPHA:2489": "Upper limb defect-eye and ear abnormalities syndrome", "ORPHA:247353": "Generalized pustular psoriasis", "ORPHA:247262": "Hyperphosphatasia-intellectual disability syndrome", "ORPHA:2487": "Lower limb malformation-hypospadias syndrome", "ORPHA:247257": "Inhalational anthrax", "ORPHA:247245": "Superficial siderosis", "ORPHA:247242": "Acquired ataxia", "ORPHA:2485": "Melorheostosis", "ORPHA:2486": "Transverse limb deficiency-hemangioma syndrome", "ORPHA:247239": "Non-hereditary degenerative ataxia", "ORPHA:247234": "Sporadic adult-onset ataxia of unknown etiology", "ORPHA:2483": "Melkersson-Rosenthal syndrome", "ORPHA:247203": "Collecting duct carcinoma", "ORPHA:2484": "Melnick-Needles syndrome", "ORPHA:247198": "Progressive cerebello-cerebral atrophy", "ORPHA:2481": "Neurocutaneous melanocytosis", "ORPHA:2482": "Melhem-Fahl syndrome", "ORPHA:247165": "Infantile mercury poisoning", "ORPHA:2477": "Megalencephaly", "ORPHA:2479": "Megalocornea-intellectual disability syndrome", "ORPHA:2475": "White forelock with malformations", "ORPHA:2476": "Dysraphism-cleft lip/palate-limb reduction defects syndrome", "ORPHA:2474": "OBSOLETE: McLain-Dekaban syndrome", "ORPHA:2473": "McKusick-Kaufman syndrome", "ORPHA:2471": "McDonough syndrome", "ORPHA:2470": "Matthew-Wood syndrome", "ORPHA:561": "Marshall-Smith syndrome", "ORPHA:2464": "Marfanoid syndrome, De Silva type", "ORPHA:559": "Marinesco-Sjögren syndrome", "ORPHA:2463": "Marfanoid habitus-autosomal recessive intellectual disability syndrome", "ORPHA:2462": "Shprintzen-Goldberg syndrome", "ORPHA:2461": "Marden-Walker syndrome", "ORPHA:251630": "Anaplastic oligodendroglioma", "ORPHA:2172": "Microcephaly-glomerulonephritis-marfanoid habitus syndrome", "ORPHA:251633": "OBSOLETE: Low-grade ependymoma", "ORPHA:251636": "Ependymoma", "ORPHA:2174": "Hunter-Carpenter-McDonald syndrome", "ORPHA:251639": "Subependymoma", "ORPHA:2176": "Infantile systemic hyalinosis", "ORPHA:251643": "Myxopapillary ependymoma", "ORPHA:251646": "Anaplastic ependymoma", "ORPHA:251651": "Oligoastrocytic tumor", "ORPHA:2181": "Hydrocephaly-tall stature-joint laxity syndrome", "ORPHA:251656": "Oligoastrocytoma", "ORPHA:2180": "Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome", "ORPHA:251663": "Anaplastic oligoastrocytoma", "ORPHA:2186": "Hydrocephalus-blue sclerae-nephropathy syndrome", "ORPHA:251668": "Glial tumor of neuroepithelial tissue with unknown origin", "ORPHA:251671": "Angiocentric glioma", "ORPHA:2189": "Hydrolethalus", "ORPHA:251674": "Chordoid glioma", "ORPHA:251679": "Astroblastoma", "ORPHA:2190": "OBSOLETE: Congenital hydronephrosis", "ORPHA:312": "Autosomal dominant epidermolytic ichthyosis", "ORPHA:2196": "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement", "ORPHA:251852": "Embryonal tumor of neuroepithelial tissue", "ORPHA:251576": "Gliosarcoma", "ORPHA:387": "NON RARE IN EUROPE: Hidradenitis suppurativa", "ORPHA:251561": "High-grade astrocytoma", "ORPHA:2150": "Hirschsprung disease-type D brachydactyly syndrome", "ORPHA:251582": "Gliomatosis cerebri", "ORPHA:251579": "Giant cell glioblastoma", "ORPHA:2152": "Mowat-Wilson syndrome", "ORPHA:2153": "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome", "ORPHA:251592": "Low-grade astrocytoma", "ORPHA:251589": "Anaplastic astrocytoma", "ORPHA:251598": "Protoplasmic astrocytoma", "ORPHA:2155": "Hirschsprung disease-deafness-polydactyly syndrome", "ORPHA:251595": "Diffuse astrocytoma", "ORPHA:2156": "OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome", "ORPHA:251604": "Gemistocytic astrocytoma", "ORPHA:251601": "Fibrillary astrocytoma", "ORPHA:2158": "Histidinuria-renal tubular defect syndrome", "ORPHA:251612": "Pilocytic astrocytoma", "ORPHA:2163": "Holoprosencephaly-craniosynostosis syndrome", "ORPHA:251607": "Pleomorphic xanthoastrocytoma", "ORPHA:251618": "Subependymal giant cell astrocytoma", "ORPHA:2165": "Holoprosencephaly-caudal dysgenesis syndrome", "ORPHA:251615": "Pilomyxoid astrocytoma", "ORPHA:2166": "Holoprosencephaly-postaxial polydactyly syndrome", "ORPHA:251627": "Oligodendroglioma", "ORPHA:2167": "Holzgreve syndrome", "ORPHA:251623": "Pituicytoma", "ORPHA:2169": "Methylcobalamin deficiency type cblE", "ORPHA:251927": "Extraventricular neurocytoma", "ORPHA:251931": "Cerebellar liponeurocytoma", "ORPHA:2222": "Hypertrichosis lanuginosa congenita", "ORPHA:251919": "Pineal parenchymal tumor of intermediate differentiation", "ORPHA:2220": "Hypertrichosis cubiti", "ORPHA:251924": "Neuronal tumor", "ORPHA:1051": "Ramos-Arroyo syndrome", "ORPHA:251940": "Desmoplastic infantile astrocytoma/ganglioglioma", "ORPHA:251946": "Dysembryoplastic neuroepithelial tumor", "ORPHA:2228": "Hypodontia-dysplasia of nails syndrome", "ORPHA:2227": "NON RARE IN EUROPE: Hypodontia", "ORPHA:251934": "Mixed neuronal-glial tumor", "ORPHA:2224": "Hypertryptophanemia", "ORPHA:251937": "Gangliocytoma", "ORPHA:2232": "Primary hypergonadotropic hypogonadism-partial alopecia syndrome", "ORPHA:251962": "Papillary glioneuronal tumor", "ORPHA:251975": "Rosette-forming glioneuronal tumor", "ORPHA:2230": "Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome", "ORPHA:251949": "Ganglioglioma", "ORPHA:2229": "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "ORPHA:251957": "Anaplastic ganglioglioma", "ORPHA:252006": "Yolk sac tumor of central nervous system", "ORPHA:2238": "Familial isolated hypoparathyroidism", "ORPHA:252015": "Choriocarcinoma of the central nervous system", "ORPHA:2237": "Hypoparathyroidism-sensorineural deafness-renal disease syndrome", "ORPHA:2235": "Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome", "ORPHA:251992": "Ganglioneuroma", "ORPHA:251995": "Primary germ cell tumor of central nervous system", "ORPHA:2234": "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome", "ORPHA:251867": "Classic medulloblastoma", "ORPHA:2199": "Epidermolytic palmoplantar keratoderma", "ORPHA:251863": "Desmoplastic/nodular medulloblastoma", "ORPHA:2200": "Focal palmoplantar and gingival keratoderma", "ORPHA:2198": "Palmoplantar keratoderma-esophageal carcinoma syndrome", "ORPHA:251858": "Medulloblastoma with extensive nodularity", "ORPHA:495": "Transgrediens et progrediens palmoplantar keratoderma", "ORPHA:251855": "Anaplastic/large cell medulloblastoma", "ORPHA:251883": "Medulloepithelioma of the central nervous system", "ORPHA:2206": "Ankylosing vertebral hyperostosis with tylosis", "ORPHA:251880": "Ependymoblastoma", "ORPHA:2201": "Palmoplantar keratoderma-spastic paralysis syndrome", "ORPHA:251877": "Ganglioneuroblastoma", "ORPHA:2202": "Palmoplantar keratoderma-deafness syndrome", "ORPHA:251870": "Central nervous system embryonal tumor", "ORPHA:251902": "Atypical papilloma of choroid plexus", "ORPHA:251899": "Choroid plexus carcinoma", "ORPHA:2213": "Hypertelorism-microtia-facial clefting syndrome", "ORPHA:251896": "Choroid plexus tumor", "ORPHA:251891": "OBSOLETE: Atypical teratoid/rhabdoid tumor", "ORPHA:2211": "Hypertelorism-hypospadias-polysyndactyly syndrome", "ORPHA:251915": "Papillary tumor of the pineal region", "ORPHA:251912": "Pineocytoma", "ORPHA:2218": "Cervical hypertrichosis-peripheral neuropathy syndrome", "ORPHA:251909": "Pineoblastoma", "ORPHA:2215": "Multiple pterygium-malignant hyperthermia syndrome", "ORPHA:251905": "Pineal tumor of neuroepithelial tissue", "ORPHA:2216": "Maternal hyperthermia-induced birth defects", "ORPHA:251019": "2q32q33 microdeletion syndrome", "ORPHA:2266": "Hypotrichosis-intellectual disability, Lopes type", "ORPHA:251028": "SATB2-associated syndrome due to a chromosomal rearrangement", "ORPHA:2269": "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome", "ORPHA:2267": "OBSOLETE: Ichthyosis-cheek-eyebrow syndrome", "ORPHA:251038": "3q29 microduplication syndrome", "ORPHA:250999": "1q41q42 microdeletion syndrome", "ORPHA:2261": "Hypospadias-intellectual disability, Goldblatt type syndrome", "ORPHA:251004": "Paternal uniparental disomy of chromosome 1 syndrome", "ORPHA:251009": "Maternal uniparental disomy of chromosome 1 syndrome", "ORPHA:672": "Pallister-Hall syndrome", "ORPHA:251014": "2q31.1 microdeletion syndrome", "ORPHA:455": "Superficial epidermolytic ichthyosis", "ORPHA:251061": "7q31 microdeletion syndrome", "ORPHA:251066": "8p11.2 deletion syndrome", "ORPHA:2272": "Ichthyosis-oral and digital anomalies syndrome", "ORPHA:251071": "8p23.1 microdeletion syndrome", "ORPHA:2274": "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome", "ORPHA:251076": "8p23.1 duplication syndrome", "ORPHA:2273": "Ichthyosis follicularis-alopecia-photophobia syndrome", "ORPHA:251043": "Ring chromosome 5 syndrome", "ORPHA:165": "Neutral lipid storage disease", "ORPHA:139": "CHILD syndrome", "ORPHA:251046": "6p22 microdeletion syndrome", "ORPHA:457": "Harlequin ichthyosis", "ORPHA:2271": "Congenital ichthyosis-microcephalus-tetraplegia syndrome", "ORPHA:251056": "6q25.2q25.3 microdeletion syndrome", "ORPHA:250808": "Serpinopathy with toxic serpin polymerization", "ORPHA:2245": "OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome", "ORPHA:250805": "Serpinopathy", "ORPHA:2246": "Cerebellar hypoplasia-tapetoretinal degeneration syndrome", "ORPHA:250831": "Logopenic progressive aphasia", "ORPHA:2249": "Ulna hypoplasia-intellectual disability syndrome", "ORPHA:250811": "Serpinopathy with loss of serpin function", "ORPHA:2239": "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland", "ORPHA:2241": "Megacystis-microcolon-intestinal hypoperistalsis syndrome", "ORPHA:2243": "Hypopituitarism-micropenis-cleft lip/palate syndrome", "ORPHA:250984": "Autosomal recessive Stickler syndrome", "ORPHA:2256": "Fibulo-ulnar hypoplasia-renal anomalies syndrome", "ORPHA:2257": "Primary pulmonary hypoplasia", "ORPHA:250977": "AICA-ribosiduria", "ORPHA:2258": "OBSOLETE: Congenital unilateral pulmonary hypoplasia", "ORPHA:250994": "1q21.1 microduplication syndrome", "ORPHA:250989": "1q21.1 microdeletion syndrome", "ORPHA:2250": "Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome", "ORPHA:250923": "Isolated aniridia", "ORPHA:2251": "Thumb deformity-alopecia-pigmentation anomaly syndrome", "ORPHA:250908": "Rare neoplastic disease", "ORPHA:2252": "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome", "ORPHA:250972": "Polymicrogyria with optic nerve hypoplasia", "ORPHA:2255": "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome", "ORPHA:250932": "Autosomal dominant optic atrophy and peripheral neuropathy", "ORPHA:251380": "Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome", "ORPHA:2306": "Isotretinoin-like syndrome", "ORPHA:251383": "CK syndrome", "ORPHA:2305": "Isotretinoin syndrome", "ORPHA:251370": "Sickle cell-hemoglobin D disease syndrome", "ORPHA:251375": "Sickle cell-hemoglobin E disease syndrome", "ORPHA:251359": "Sickle cell-beta-thalassemia disease syndrome", "ORPHA:251365": "Sickle cell-hemoglobin C disease syndrome", "ORPHA:2295": "Familial articular hypermobility syndrome", "ORPHA:251355": "Sickle cell disease associated with another hemoglobin anomaly", "ORPHA:2292": "OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome", "ORPHA:251535": "Maternal disease-related embryofetopathy", "ORPHA:2319": "Juberg-Hayward syndrome", "ORPHA:251558": "Rare tumor of neuroepithelial tissue", "ORPHA:251523": "Hyperzincemia and hypercalprotectinemia", "ORPHA:2316": "Johnson neuroectodermal syndrome", "ORPHA:251529": "Toxic or drug-related embryofetopathy", "ORPHA:2315": "Johanson-Blizzard syndrome", "ORPHA:251510": "46,XY partial gonadal dysgenesis", "ORPHA:251515": "Distal arthrogryposis type 10", "ORPHA:2310": "Absence deformity of leg-cataract syndrome", "ORPHA:2309": "Pachyonychia congenita", "ORPHA:251393": "Localized junctional epidermolysis bullosa", "ORPHA:2307": "IVIC syndrome", "ORPHA:251295": "Pigmented paravenous retinochoroidal atrophy", "ORPHA:251290": "Parietal foramina with clavicular hypoplasia", "ORPHA:2282": "Dysmorphism-short stature-deafness-difference of sex development syndrome", "ORPHA:251287": "Benign concentric annular macular dystrophy", "ORPHA:251282": "Autosomal dominant spastic ataxia type 1", "ORPHA:251279": "Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome", "ORPHA:251274": "Familial hyperaldosteronism type III", "ORPHA:2278": "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome", "ORPHA:251262": "Familial osteochondritis dissecans", "ORPHA:2291": "Congenital velopharyngeal incompetence", "ORPHA:251347": "Ataxia-telangiectasia-like disorder", "ORPHA:251332": "Unexplained long-lasting fever/inflammatory syndrome", "ORPHA:251328": "Unclassified vasculitis", "ORPHA:2289": "Neuronal intranuclear inclusion disease", "ORPHA:251325": "Drug-induced vasculitis", "ORPHA:2290": "Microvillus inclusion disease", "ORPHA:251316": "OBSOLETE: Unclassified overlapping connective tissue disease", "ORPHA:2287": "Fused mandibular incisors", "ORPHA:251312": "Overlapping connective tissue disease", "ORPHA:2285": "Primary basilar invagination", "ORPHA:251307": "Idiopathic recurrent pericarditis", "ORPHA:2286": "OBSOLETE: Solitary median maxillary central incisor syndrome", "ORPHA:251304": "Infantile onset panniculitis with uveitis and systemic granulomatosis", "ORPHA:2675": "OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome", "ORPHA:254843": "Exercise intolerance with lactic acidosis", "ORPHA:2674": "Cyprus facial-neuromusculoskeletal syndrome", "ORPHA:254846": "Isolated oxidative phosphorylation complex disorder", "ORPHA:254837": "Unspecified mitochondrial disorder", "ORPHA:2673": "Neurofaciodigitorenal syndrome", "ORPHA:2672": "Neuhauser-Eichner-Opitz syndrome", "ORPHA:2679": "OBSOLETE: Infantile axonal neuropathy", "ORPHA:254857": "Lethal infantile mitochondrial myopathy", "ORPHA:2678": "Familial isolated café-au-lait macules", "ORPHA:254864": "Mitochondrial myopathy with reversible cytochrome C oxidase deficiency", "ORPHA:2676": "Neuroectodermal-endocrine syndrome", "ORPHA:254851": "Mitochondrial DNA-related dystonia", "ORPHA:254854": "Pure mitochondrial myopathy", "ORPHA:2668": "Nephropathy-deafness-hyperparathyroidism syndrome", "ORPHA:254807": "Multiple mitochondrial DNA deletion syndrome", "ORPHA:2663": "Nathalie syndrome", "ORPHA:254818": "Ataxia neuropathy spectrum", "ORPHA:2662": "Keipert syndrome", "ORPHA:254793": "OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA", "ORPHA:2661": "Dwarfism-tall vertebrae syndrome", "ORPHA:254803": "Mitochondrial DNA depletion syndrome, encephalomyopathic form", "ORPHA:2671": "Neu-Laxova syndrome", "ORPHA:254830": "Mitochondrial substrate carrier disorder", "ORPHA:1475": "Renal coloboma syndrome", "ORPHA:254834": "Mitochondrial protein import disorder", "ORPHA:2670": "Pierson syndrome", "ORPHA:254822": "Mitochondrial oxidative phosphorylation disorder with no known mechanism", "ORPHA:2669": "Nephrosis-deafness-urinary tract-digital malformations syndrome", "ORPHA:254827": "Mitochondrial membrane transport disorder", "ORPHA:254930": "Combined oxidative phosphorylation defect type 7", "ORPHA:254925": "Combined oxidative phosphorylation defect type 4", "ORPHA:2697": "Arthrogryposis-renal dysfunction-cholestasis syndrome", "ORPHA:2694": "OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome", "ORPHA:254920": "Combined oxidative phosphorylation defect type 2", "ORPHA:2695": "Bifid nose", "ORPHA:254913": "Isolated ATP synthase deficiency", "ORPHA:255182": "Pyruvate dehydrogenase E3-binding protein deficiency", "ORPHA:2701": "Noonan syndrome-like disorder with loose anagen hair", "ORPHA:255138": "Pyruvate dehydrogenase E1-beta deficiency", "ORPHA:255132": "Adult-onset autosomal recessive sideroblastic anemia", "ORPHA:2698": "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome", "ORPHA:255117": "OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness", "ORPHA:2699": "Median nodule of the upper lip", "ORPHA:254886": "Autosomal recessive progressive external ophthalmoplegia", "ORPHA:254881": "Spinocerebellar ataxia with epilepsy", "ORPHA:254875": "Mitochondrial DNA depletion syndrome, myopathic form", "ORPHA:254871": "Mitochondrial DNA depletion syndrome, hepatocerebral form", "ORPHA:254905": "Isolated cytochrome C oxidase deficiency", "ORPHA:254902": "Renal tubulopathy-encephalopathy-liver failure syndrome", "ORPHA:2690": "Neutropenia-monocytopenia-deafness syndrome", "ORPHA:254898": "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome", "ORPHA:2691": "Nevo syndrome", "ORPHA:254892": "Autosomal dominant progressive external ophthalmoplegia", "ORPHA:2712": "Oculofaciocardiodental syndrome", "ORPHA:2714": "Oculo-palato-cerebral syndrome", "ORPHA:2713": "Oculoosteocutaneous syndrome", "ORPHA:2716": "OBSOLETE: Oculo-skeletal-renal syndrome", "ORPHA:2715": "Severe oculo-renal-cerebellar syndrome", "ORPHA:2718": "Oculotrichodysplasia", "ORPHA:2717": "Oculotrichoanal syndrome", "ORPHA:2704": "Urofacial syndrome", "ORPHA:255199": "OBSOLETE: Sporadic Leigh syndrome", "ORPHA:2703": "Port-wine nevi-mega cisterna magna-hydrocephalus syndrome", "ORPHA:255210": "Mitochondrial DNA-associated Leigh syndrome", "ORPHA:2706": "OBSOLETE: Oculocerebroacral syndrome", "ORPHA:2705": "OBSOLETE: Oculocerebral dysplasia", "ORPHA:255225": "OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy", "ORPHA:2708": "OBSOLETE: Oculocerebroosseous syndrome", "ORPHA:255229": "Navajo neurohepatopathy", "ORPHA:2707": "Oculocerebrofacial syndrome, Kaufman type", "ORPHA:255235": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy", "ORPHA:2710": "Oculodentodigital dysplasia", "ORPHA:255241": "Leigh syndrome with leukodystrophy", "ORPHA:2709": "Oculodental syndrome, Rutherfurd type", "ORPHA:255249": "Leigh syndrome with nephrotic syndrome", "ORPHA:2728": "Blepharophimosis-intellectual disability syndrome, Ohdo type", "ORPHA:2730": "Postaxial tetramelic oligodactyly", "ORPHA:2731": "Taurodontia-absent teeth-sparse hair syndrome", "ORPHA:2732": "Olivopontocerebellar atrophy-deafness syndrome", "ORPHA:2733": "Omodysplasia", "ORPHA:2719": "Oculocerebral hypopigmentation syndrome, Cross type", "ORPHA:2720": "Oculocerebral hypopigmentation syndrome, Preus type", "ORPHA:2721": "Odonto-onycho-dermal dysplasia", "ORPHA:2722": "Odonto-onycho dysplasia-alopecia syndrome", "ORPHA:2723": "Odontotrichomelic syndrome", "ORPHA:2724": "Odontomatosis-aortae esophagus stenosis syndrome", "ORPHA:260305": "Autosomal recessive sideroblastic anemia", "ORPHA:2725": "Eye defects-arachnodactyly-cardiopathy syndrome", "ORPHA:2755": "Orofaciodigital syndrome type 8", "ORPHA:2754": "Orofaciodigital syndrome type 6", "ORPHA:252164": "Benign schwannoma", "ORPHA:2753": "Orofaciodigital syndrome type 4", "ORPHA:2752": "Orofaciodigital syndrome type 3", "ORPHA:2751": "Orofaciodigital syndrome type 2", "ORPHA:252128": "Malignant peripheral nerve sheath tumor with perineurial differentiation", "ORPHA:2750": "Orofaciodigital syndrome type 1", "ORPHA:252131": "Benign peripheral nerve sheath tumor", "ORPHA:252057": "Tumor of cranial and spinal nerves", "ORPHA:252050": "Primary melanoma of the central nervous system", "ORPHA:2743": "Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome", "ORPHA:2742": "OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome", "ORPHA:252054": "Hemangioblastoma", "ORPHA:2741": "Ophthalmomandibulomelic dysplasia", "ORPHA:252031": "Diffuse leptomeningeal melanocytosis", "ORPHA:252046": "Meningeal melanocytoma", "ORPHA:252025": "Tumor of meninges", "ORPHA:2739": "Onycho-tricho-dysplasia-neutropenia syndrome", "ORPHA:252028": "Primary melanocytic tumor of central nervous system", "ORPHA:252018": "Teratoma of the central nervous system", "ORPHA:661": "Congenital central hypoventilation syndrome", "ORPHA:2736": "Lethal omphalocele-cleft palate syndrome", "ORPHA:252021": "Mixed germ cell tumor of central nervous system", "ORPHA:254367": "Rare lichen planus", "ORPHA:2776": "Autosomal recessive distal osteolysis syndrome", "ORPHA:2777": "Osteomesopyknosis", "ORPHA:254361": "Plectin-related limb-girdle muscular dystrophy R17", "ORPHA:2774": "Multicentric carpo-tarsal osteolysis with or without nephropathy", "ORPHA:254351": "Distal 7q11.23 microdeletion syndrome", "ORPHA:2775": "Autosomal recessive carpotarsal osteolysis", "ORPHA:2769": "Familial osteodysplasia, Anderson type", "ORPHA:254346": "19p13.12 microdeletion syndrome", "ORPHA:2770": "Nasu-Hakola disease", "ORPHA:254343": "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome", "ORPHA:2767": "Carpotarsal osteochondromatosis", "ORPHA:254334": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B", "ORPHA:2768": "Blount disease", "ORPHA:2765": "OBSOLETE: Hypertrichotic osteochondrodysplasia", "ORPHA:2762": "Progressive osseous heteroplasia", "ORPHA:252212": "Malignant triton tumor", "ORPHA:2763": "Osteocraniostenosis", "ORPHA:252206": "Melanoma and neural system tumor syndrome", "ORPHA:252202": "Constitutional mismatch repair deficiency syndrome", "ORPHA:2759": "Imperforate oropharynx-costovertebral anomalies syndrome", "ORPHA:2760": "OSLAM syndrome", "ORPHA:252190": "Inherited nervous system cancer-predisposing syndrome", "ORPHA:252183": "Neurofibroma", "ORPHA:252175": "Vestibular schwannoma", "ORPHA:254516": "Temple syndrome", "ORPHA:2793": "Otoonychoperoneal syndrome", "ORPHA:2792": "Otofaciocervical syndrome", "ORPHA:254519": "Kagami-Ogata syndrome", "ORPHA:254525": "Temple syndrome due to paternal 14q32.2 microdeletion", "ORPHA:2798": "Pachygyria-intellectual disability-epilepsy syndrome", "ORPHA:2796": "Pachydermoperiostosis", "ORPHA:254528": "Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion", "ORPHA:254478": "Lichen planus pemphigoides", "ORPHA:2789": "Lateral meningocele syndrome", "ORPHA:2788": "Osteoporosis-pseudoglioma syndrome", "ORPHA:254492": "Frontal fibrosing alopecia", "ORPHA:2791": "Otodental syndrome", "ORPHA:254504": "Inhalational botulism", "ORPHA:2790": "Endosteal hyperostosis, Worth type", "ORPHA:254509": "Iatrogenic botulism", "ORPHA:1306": "NON RARE IN EUROPE: Buschke-Ollendorff syndrome", "ORPHA:254411": "Annular atrophic lichen planus", "ORPHA:254424": "Annular lichen planus", "ORPHA:2783": "Autosomal dominant osteopetrosis type 1", "ORPHA:2787": "OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome", "ORPHA:254449": "Atrophic lichen planus", "ORPHA:2786": "Osteoporosis-oculocutaneous hypopigmentation syndrome", "ORPHA:254463": "Lichen planus pigmentosus", "ORPHA:254370": "Rare cutaneous lichen planus", "ORPHA:2780": "Osteopathia striata-cranial sclerosis syndrome", "ORPHA:254373": "Rare mucosal lichen planus", "ORPHA:2779": "Osteopathia striata-pigmentary dermopathy-white forelock syndrome", "ORPHA:254379": "Linear lichen planus", "ORPHA:254395": "Actinic lichen planus", "ORPHA:667": "Autosomal recessive malignant osteopetrosis", "ORPHA:2815": "Spastic paraparesis-deafness syndrome", "ORPHA:254767": "Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA", "ORPHA:2823": "OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome", "ORPHA:254758": "Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies", "ORPHA:2816": "Spastic paraplegia-epilepsy-intellectual disability syndrome", "ORPHA:254788": "Mitochondrial DNA-related mitochondrial myopathy", "ORPHA:2818": "Spastic paraplegia-glaucoma-intellectual disability syndrome", "ORPHA:254776": "Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA", "ORPHA:254723": "Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome", "ORPHA:2808": "Laryngeal abductor paralysis", "ORPHA:254712": "Familial sinus histiocytosis with massive lymphadenopathy", "ORPHA:2809": "Familial recurrent peripheral facial palsy", "ORPHA:254749": "Tricarboxylic acid cycle disorder", "ORPHA:2812": "Parana hard skin syndrome", "ORPHA:254746": "Pyruvate metabolism disorder", "ORPHA:2805": "Partial pancreatic agenesis", "ORPHA:254698": "Epithelioid trophoblastic tumor", "ORPHA:254693": "Partial hydatidiform mole", "ORPHA:675": "Annular pancreas", "ORPHA:2807": "Papilloma of choroid plexus", "ORPHA:254707": "Faisalabad histiocytosis", "ORPHA:678": "Papillon-Lefèvre syndrome", "ORPHA:254704": "Genetic hyperferritinemia without iron overload", "ORPHA:254534": "Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation", "ORPHA:2802": "X-linked sideroblastic anemia and spinocerebellar ataxia", "ORPHA:254531": "Temple syndrome due to paternal 14q32.2 hypomethylation", "ORPHA:254688": "Complete hydatidiform mole", "ORPHA:2804": "W syndrome", "ORPHA:254685": "Gestational trophoblastic disease", "ORPHA:261718": "OBSOLETE: Anomaly of chromosome 8", "ORPHA:619": "NON RARE IN EUROPE: Primary ovarian failure", "ORPHA:261715": "OBSOLETE: Anomaly of chromosome 7", "ORPHA:261712": "OBSOLETE: Anomaly of chromosome 6", "ORPHA:2491": "Müllerian duct anomalies-limb anomalies syndrome", "ORPHA:261709": "OBSOLETE: Anomaly of chromosome 5", "ORPHA:2492": "FATCO syndrome", "ORPHA:2498": "Syndactyly type 8", "ORPHA:261730": "OBSOLETE: Anomaly of chromosome 11", "ORPHA:2499": "Metachondromatosis", "ORPHA:261724": "OBSOLETE: Anomaly of chromosome 10", "ORPHA:2496": "Mesomelia-synostoses syndrome", "ORPHA:2497": "Upper limb mesomelic dysplasia, type Fryns", "ORPHA:261721": "OBSOLETE: Anomaly of chromosome 9", "ORPHA:261742": "OBSOLETE: Anomaly of chromosome 15", "ORPHA:2502": "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome", "ORPHA:261739": "OBSOLETE: Anomaly of chromosome 14", "ORPHA:261736": "OBSOLETE: Anomaly of chromosome 13", "ORPHA:2500": "Acrogeria", "ORPHA:261733": "OBSOLETE: Anomaly of chromosome 12", "ORPHA:2501": "Metaphyseal chondrodysplasia, Spahr type", "ORPHA:261754": "OBSOLETE: Anomaly of chromosome 19", "ORPHA:2506": "Michels syndrome", "ORPHA:2507": "OBSOLETE: Mickleson syndrome", "ORPHA:261751": "OBSOLETE: Anomaly of chromosome 18", "ORPHA:261748": "OBSOLETE: Anomaly of chromosome 17", "ORPHA:2504": "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome", "ORPHA:261745": "OBSOLETE: Anomaly of chromosome 16", "ORPHA:2505": "Multiple benign circumferential skin creases on limbs", "ORPHA:261763": "OBSOLETE: Anomaly of chromosome 22", "ORPHA:2511": "Microbrachycephaly-ptosis-cleft lip syndrome", "ORPHA:261766": "Partial deletion of chromosome 1 syndrome", "ORPHA:2510": "Micro syndrome", "ORPHA:261757": "OBSOLETE: Anomaly of chromosome 20", "ORPHA:2508": "Corpus callosum agenesis-abnormal genitalia syndrome", "ORPHA:261760": "OBSOLETE: Anomaly of chromosome 21", "ORPHA:261781": "Partial deletion of chromosome 4 syndrome", "ORPHA:2516": "Microcephaly-cardiac defect-lung malsegmentation syndrome", "ORPHA:261786": "Partial deletion of chromosome 5 syndrome", "ORPHA:2515": "Microcephaly-cardiomyopathy syndrome", "ORPHA:261771": "Partial deletion of chromosome 2 syndrome", "ORPHA:2514": "Autosomal dominant primary microcephaly", "ORPHA:261776": "Partial deletion of chromosome 3 syndrome", "ORPHA:2513": "Microcephaly-albinism-digital anomalies syndrome", "ORPHA:261801": "Partial deletion of chromosome 8 syndrome", "ORPHA:2521": "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome", "ORPHA:261806": "Partial deletion of chromosome 9 syndrome", "ORPHA:261791": "Partial deletion of chromosome 6 syndrome", "ORPHA:2518": "Autosomal recessive chorioretinopathy-microcephaly syndrome", "ORPHA:261796": "Partial deletion of chromosome 7 syndrome", "ORPHA:261821": "Partial deletion of the long arm of chromosome 12 syndrome", "ORPHA:2524": "Pontocerebellar hypoplasia type 2", "ORPHA:261826": "Partial deletion of chromosome 16 syndrome", "ORPHA:261811": "Partial deletion of chromosome 10 syndrome", "ORPHA:2523": "Microcephaly-brain defect-spasticity-hypernatremia syndrome", "ORPHA:261816": "Partial deletion of chromosome 11 syndrome", "ORPHA:2522": "Microcephaly-cervical spine fusion anomalies syndrome", "ORPHA:261836": "Partial deletion of chromosome 18 syndrome", "ORPHA:2526": "Microcephaly-lymphedema-chorioretinopathy syndrome", "ORPHA:261831": "Partial deletion of chromosome 17 syndrome", "ORPHA:261846": "Partial deletion of chromosome 20 syndrome", "ORPHA:2528": "Microcephaly-microcornea syndrome, Seemanova type", "ORPHA:261841": "Partial deletion of chromosome 19 syndrome", "ORPHA:261866": "Partial deletion of the short arm of chromosome 2 syndrome", "ORPHA:261857": "Partial deletion of the short arm of chromosome 1 syndrome", "ORPHA:261884": "Partial deletion of the short arm of chromosome 4 syndrome", "ORPHA:2533": "Microcephaly-deafness-intellectual disability syndrome", "ORPHA:261875": "Partial deletion of the short arm of chromosome 3 syndrome", "ORPHA:2535": "OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome", "ORPHA:261902": "Partial deletion of the short arm of chromosome 6 syndrome", "ORPHA:2536": "Microcornea-glaucoma-absent frontal sinuses syndrome", "ORPHA:261893": "Partial deletion of the short arm of chromosome 5 syndrome", "ORPHA:261920": "Partial deletion of the short arm of chromosome 8 syndrome", "ORPHA:261911": "Partial deletion of the short arm of chromosome 7 syndrome", "ORPHA:261938": "Partial deletion of the short arm of chromosome 10 syndrome", "ORPHA:261929": "Partial deletion of the short arm of chromosome 9 syndrome", "ORPHA:261956": "Partial deletion of the short arm of chromosome 16 syndrome", "ORPHA:2543": "OBSOLETE: Microphthalmia-cataract syndrome", "ORPHA:261947": "Partial deletion of the short arm of chromosome 11 syndrome", "ORPHA:261965": "Partial deletion of the short arm of chromosome 17 syndrome", "ORPHA:2549": "Oculoauriculovertebral spectrum with radial defects", "ORPHA:261974": "Partial deletion of the short arm of chromosome 18 syndrome", "ORPHA:261983": "Partial deletion of the short arm of chromosome 19 syndrome", "ORPHA:2551": "Microspherophakia-metaphyseal dysplasia syndrome", "ORPHA:261992": "Partial deletion of the short arm of chromosome 20 syndrome", "ORPHA:262001": "Partial deletion of the long arm of chromosome 1 syndrome", "ORPHA:2554": "Ear-patella-short stature syndrome", "ORPHA:262010": "Partial deletion of the long arm of chromosome 2 syndrome", "ORPHA:262019": "Partial deletion of the long arm of chromosome 3 syndrome", "ORPHA:2556": "Microphthalmia with linear skin defects syndrome", "ORPHA:262029": "Partial deletion of the long arm of chromosome 4 syndrome", "ORPHA:262038": "Partial deletion of the long arm of chromosome 5 syndrome", "ORPHA:2558": "Mikati-Najjar-Sahli syndrome", "ORPHA:262047": "Partial deletion of the long arm of chromosome 6 syndrome", "ORPHA:2557": "Mietens syndrome", "ORPHA:2561": "Pyramidal molars-abnormal upper lip syndrome", "ORPHA:262056": "Partial deletion of the long arm of chromosome 7 syndrome", "ORPHA:262065": "Partial deletion of the long arm of chromosome 8 syndrome", "ORPHA:2560": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome", "ORPHA:2564": "Tetramelic monodactyly", "ORPHA:262074": "Partial deletion of the long arm of chromosome 9 syndrome", "ORPHA:262083": "Partial deletion of the long arm of chromosome 10 syndrome", "ORPHA:2563": "MOMO syndrome", "ORPHA:262092": "Partial deletion of the long arm of chromosome 11 syndrome", "ORPHA:262101": "Partial deletion of the long arm of chromosome 13 syndrome", "ORPHA:2565": "Mononen-Karnes-Senac syndrome", "ORPHA:2574": "Moynahan syndrome", "ORPHA:575": "Muckle-Wells syndrome", "ORPHA:2572": "Spastic ataxia-corneal dystrophy syndrome", "ORPHA:2573": "Moyamoya disease", "ORPHA:2570": "Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome", "ORPHA:2571": "X-linked immunoneurologic disorder", "ORPHA:2569": "Moore-Federman syndrome", "ORPHA:261183": "15q11.2 microdeletion syndrome", "ORPHA:2585": "Ataxia-pancytopenia syndrome", "ORPHA:261144": "FOXG1 syndrome due to 14q12 microdeletion", "ORPHA:2580": "OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome", "ORPHA:261120": "14q11.2 microdeletion syndrome", "ORPHA:2578": "Mayer-Rokitansky-Küster-Hauser syndrome type 2", "ORPHA:261112": "Monosomy 9p syndrome", "ORPHA:2579": "Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome", "ORPHA:261102": "Distal 7q11.23 microduplication syndrome", "ORPHA:2576": "Mulibrey nanism", "ORPHA:261236": "16p13.11 microdeletion syndrome", "ORPHA:261243": "16p13.11 microduplication syndrome", "ORPHA:2608": "N syndrome", "ORPHA:261222": "Distal 16p11.2 microdeletion syndrome", "ORPHA:1359": "Carney complex", "ORPHA:2593": "Tubular aggregate myopathy", "ORPHA:261229": "14q11.2 microduplication syndrome", "ORPHA:2590": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome", "ORPHA:261204": "16p11.2p12.2 microduplication syndrome", "ORPHA:261211": "16p11.2p12.2 microdeletion syndrome", "ORPHA:2589": "Myoclonus-cerebellar ataxia-deafness syndrome", "ORPHA:261190": "Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion", "ORPHA:2588": "Myhre syndrome", "ORPHA:261197": "Proximal 16p11.2 microdeletion syndrome", "ORPHA:2621": "OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome", "ORPHA:261295": "20p12.3 microdeletion syndrome", "ORPHA:261304": "Paternal 20q13.2q13.3 microdeletion syndrome", "ORPHA:261279": "17q23.1q23.2 microdeletion syndrome", "ORPHA:261290": "Trisomy 17p syndrome", "ORPHA:2617": "Microcephalic primordial dwarfism, Montreal type", "ORPHA:261265": "17q12 microdeletion syndrome", "ORPHA:261272": "17q12 microduplication syndrome", "ORPHA:2616": "3M syndrome", "ORPHA:261250": "16q24.3 microdeletion syndrome", "ORPHA:2613": "Nail-patella-like renal disease", "ORPHA:261257": "Distal 17p13.3 microdeletion syndrome", "ORPHA:261344": "Trisomy 1q syndrome", "ORPHA:261337": "Distal 22q11.2 microduplication syndrome", "ORPHA:261476": "Xp21 deletion syndrome", "ORPHA:261349": "2p15p16.1 microdeletion syndrome", "ORPHA:261318": "Trisomy 20p syndrome", "ORPHA:261311": "20q13.33 microdeletion syndrome", "ORPHA:2623": "Geleophysic dysplasia", "ORPHA:261330": "Distal 22q11.2 microdeletion syndrome", "ORPHA:261323": "21q22.11q22.12 microdeletion syndrome", "ORPHA:261524": "Paternal uniparental disomy of chromosome X syndrome", "ORPHA:2639": "Fibular aplasia-complex brachydactyly syndrome", "ORPHA:261519": "Maternal uniparental disomy of chromosome X syndrome", "ORPHA:261534": "49,XXXYY syndrome", "ORPHA:2640": "Lethal short-limb dwarfism, McAlister-Crane type", "ORPHA:261529": "Ring chromosome Y syndrome", "ORPHA:2641": "OBSOLETE: Micromelic dwarfism, Fryns type", "ORPHA:2631": "Mesomelic dwarfism-cleft palate-camptodactyly syndrome", "ORPHA:261494": "Kleefstra syndrome", "ORPHA:261483": "Xq27.3q28 duplication syndrome", "ORPHA:2632": "Langer mesomelic dysplasia", "ORPHA:261512": "OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3", "ORPHA:2633": "Mesomelic dysplasia, Nievergelt type", "ORPHA:261501": "Atypical Norrie disease due to Xp11.3 microdeletion", "ORPHA:2634": "Mesomelic dwarfism, Reinhardt-Pfeiffer type", "ORPHA:2646": "Parastremmatic dysplasia", "ORPHA:261579": "OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations", "ORPHA:2645": "Osteoglosphonic dysplasia", "ORPHA:261584": "Familial adenomatous polyposis due to 5q22.2 microdeletion", "ORPHA:261600": "Alagille syndrome due to 20p12 microdeletion", "ORPHA:261619": "Alagille syndrome due to a JAG1 point mutation", "ORPHA:261537": "Mowat-Wilson syndrome due to monosomy 2q22", "ORPHA:2643": "Microcephalic primordial dwarfism, Toriello type", "ORPHA:261552": "Mowat-Wilson syndrome due to a ZEB2 point mutation", "ORPHA:261559": "OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome", "ORPHA:261572": "OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome", "ORPHA:2636": "Microcephalic osteodysplastic primordial dwarfism types I and III", "ORPHA:261697": "OBSOLETE: Anomaly of chromosome 1", "ORPHA:2658": "Lenz-Majewski hyperostotic dwarfism", "ORPHA:261700": "OBSOLETE: Anomaly of chromosome 2", "ORPHA:261703": "OBSOLETE: Anomaly of chromosome 3", "ORPHA:261706": "OBSOLETE: Anomaly of chromosome 4", "ORPHA:261629": "Alagille syndrome due to a NOTCH2 point mutation", "ORPHA:261638": "Okihiro syndrome due to 20q13 microdeletion", "ORPHA:2650": "OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome", "ORPHA:261647": "Okihiro syndrome due to a point mutation", "ORPHA:2654": "Syndesmodysplasic dwarfism", "ORPHA:261652": "Kleefstra syndrome due to a point mutation", "ORPHA:3061": "OBSOLETE: X-linked intellectual disability, Raynaud type", "ORPHA:264200": "14q22q23 microdeletion syndrome", "ORPHA:263798": "OBSOLETE: Y chromosomal anomaly", "ORPHA:3062": "OBSOLETE: X-linked intellectual disability, Schutz type", "ORPHA:3059": "X-linked intellectual disability, Gu type", "ORPHA:263793": "Uniparental disomy of chromosome X syndrome", "ORPHA:263783": "Partial duplication of the long arm of chromosome X syndrome", "ORPHA:3056": "X-linked intellectual disability, Brooks type", "ORPHA:263775": "Partial duplication of the short arm of chromosome X syndrome", "ORPHA:263768": "Partial duplication of chromosome X syndrome", "ORPHA:3057": "Monoamine oxidase A deficiency", "ORPHA:775": "OBSOLETE: X-linked intellectual disability, Martinez type", "ORPHA:3055": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome", "ORPHA:263756": "Partial deletion of the long arm of chromosome X syndrome", "ORPHA:263749": "X and Y chromosomal anomaly syndrome", "ORPHA:263746": "Y chromosome number anomaly syndrome", "ORPHA:3050": "OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome", "ORPHA:3052": "X-linked intellectual disability-seizures-psoriasis syndrome", "ORPHA:263731": "Partial deletion of the short arm of the chromosome X syndrome", "ORPHA:3046": "OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type", "ORPHA:263726": "Partial deletion of chromosome X syndrome", "ORPHA:3047": "Blepharophimosis-intellectual disability syndrome, SBBYS type", "ORPHA:263723": "Polysomy of X chromosome syndrome", "ORPHA:3043": "OBSOLETE: Intellectual disability-unusual facies syndrome", "ORPHA:263720": "X chromosome number anomaly with male phenotype syndrome", "ORPHA:3044": "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome", "ORPHA:263714": "X chromosome number anomaly syndrome", "ORPHA:3042": "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome", "ORPHA:263717": "X chromosome number anomaly with female phenotype syndrome", "ORPHA:3041": "Intellectual disability-balding-patella luxation-acromicria syndrome", "ORPHA:263708": "Complex chromosomal rearrangement syndrome", "ORPHA:263711": "OBSOLETE: X chromosome anomaly", "ORPHA:3038": "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome", "ORPHA:263665": "NK-cell enteropathy", "ORPHA:263676": "OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features", "ORPHA:263558": "OBSOLETE: Peeling skin syndrome type C", "ORPHA:3035": "Growth delay-hydrocephaly-lung hypoplasia syndrome", "ORPHA:263662": "Familial multiple meningioma", "ORPHA:3034": "Delayed membranous cranial ossification", "ORPHA:263548": "Peeling skin syndrome type A", "ORPHA:3033": "Renal tubular dysgenesis", "ORPHA:263553": "Peeling skin syndrome type B", "ORPHA:3032": "NPHP3-related Meckel-like syndrome", "ORPHA:263534": "Acral peeling skin syndrome", "ORPHA:263543": "Generalized peeling skin syndrome", "ORPHA:263516": "Progressive myoclonic epilepsy type 3", "ORPHA:3029": "NON RARE IN EUROPE: Horseshoe kidney", "ORPHA:263524": "Acute necrotizing encephalopathy of childhood", "ORPHA:263501": "COG4-CDG", "ORPHA:3026": "Radial ray hypoplasia-choanal atresia syndrome", "ORPHA:263508": "COG1-CDG", "ORPHA:263482": "Spondyloepimetaphyseal dysplasia, Maroteaux type", "ORPHA:3021": "RAPADILINO syndrome", "ORPHA:3022": "Rapp-Hodgkin syndrome", "ORPHA:263479": "Fuchs heterochromic iridocyclitis", "ORPHA:263494": "DPM3-CDG", "ORPHA:3023": "External auditory canal atresia-vertical talus-hypertelorism syndrome", "ORPHA:263487": "COG5-CDG", "ORPHA:263458": "Hyperinsulinism due to INSR deficiency", "ORPHA:263455": "Congenital hyperinsulinism due to HNF4A deficiency", "ORPHA:1832": "Osteosclerotic bone dysplasia", "ORPHA:3018": "Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome", "ORPHA:3019": "Ramon syndrome", "ORPHA:263463": "CHST3-related skeletal dysplasia", "ORPHA:263432": "Nevus of Ito", "ORPHA:263425": "Nevus of Ota", "ORPHA:3015": "Radio-renal syndrome", "ORPHA:263440": "Neuroacanthocytosis", "ORPHA:263435": "Congenital smooth muscle hamartoma", "ORPHA:3016": "Absent radius-anogenital anomalies syndrome", "ORPHA:263410": "Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome", "ORPHA:3010": "Qazi-Markouizos syndrome", "ORPHA:263355": "OBSOLETE: ATR-X-related syndrome", "ORPHA:3011": "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome", "ORPHA:263417": "Bartter syndrome with hypocalcemia", "ORPHA:769": "Rabson-Mendenhall syndrome", "ORPHA:263413": "Angiosarcoma", "ORPHA:3003": "Pyknoachondrogenesis", "ORPHA:263335": "Moderately-differentiated thymic neuroendocrine carcinoma", "ORPHA:263339": "Poorly differentiated thymic neuroendocrine carcinoma", "ORPHA:3005": "Pyle disease", "ORPHA:263347": "MRCS syndrome", "ORPHA:263352": "Postcardiotomy right ventricular failure", "ORPHA:3004": "Mirror polydactyly-vertebral segmentation-limbs defects syndrome", "ORPHA:263310": "Thymoma type A", "ORPHA:2997": "Ptosis-vocal cord paralysis syndrome", "ORPHA:263317": "Thymoma type B", "ORPHA:263324": "Thymoma type AB", "ORPHA:2999": "Ptosis-strabismus-ectopic pupils syndrome", "ORPHA:263331": "Well-differentiated thymic neuroendocrine carcinoma", "ORPHA:2998": "Carnevale syndrome", "ORPHA:263054": "OBSOLETE: Uniparental disomy of chromosome 15", "ORPHA:263059": "OBSOLETE: Uniparental disomy of chromosome 20", "ORPHA:2990": "Autosomal recessive multiple pterygium syndrome", "ORPHA:263064": "OBSOLETE: Uniparental disomy of chromosome 21", "ORPHA:263297": "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency", "ORPHA:263034": "OBSOLETE: Uniparental disomy of chromosome 11", "ORPHA:2987": "Antecubital pterygium syndrome", "ORPHA:2985": "Pseudoprogeria syndrome", "ORPHA:263044": "OBSOLETE: Uniparental disomy of chromosome 13", "ORPHA:2989": "Familial pterygium of the conjunctiva", "ORPHA:263049": "OBSOLETE: Uniparental disomy of chromosome 14", "ORPHA:2988": "Pterygium colli-intellectual disability-digital anomalies syndrome", "ORPHA:262995": "Partial duplication of the long arm of chromosome 20 syndrome", "ORPHA:262986": "Partial duplication of the long arm of chromosome 19 syndrome", "ORPHA:3138": "Ulnar-mammary syndrome", "ORPHA:262977": "Partial duplication of the long arm of chromosome 18 syndrome", "ORPHA:262968": "Partial duplication of the long arm of chromosome 17 syndrome", "ORPHA:263029": "OBSOLETE: Uniparental disomy of chromosome 7", "ORPHA:3145": "Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome", "ORPHA:263024": "OBSOLETE: Uniparental disomy of chromosome 6", "ORPHA:263019": "OBSOLETE: Uniparental disomy of chromosome 1", "ORPHA:3143": "Autoimmune polyendocrinopathy type 2", "ORPHA:3144": "Schneckenbecken dysplasia", "ORPHA:263004": "Partial duplication of the long arm of chromosome 22 syndrome", "ORPHA:262923": "Partial duplication of the long arm of chromosome 11 syndrome", "ORPHA:3132": "Say-Barber-Miller syndrome", "ORPHA:262914": "Partial duplication of the long arm of chromosome 10 syndrome", "ORPHA:262905": "Partial duplication of the long arm of chromosome 9 syndrome", "ORPHA:3128": "OBSOLETE: Sakati-Nyhan syndrome", "ORPHA:3130": "Satoyoshi syndrome", "ORPHA:262896": "Partial duplication of the long arm of chromosome 8 syndrome", "ORPHA:262959": "Partial duplication of the long arm of chromosome 16 syndrome", "ORPHA:798": "Schinzel-Giedion syndrome", "ORPHA:262950": "Partial duplication of the long arm of chromosome 15 syndrome", "ORPHA:3133": "OBSOLETE: Say-Field-Coldwell syndrome", "ORPHA:262941": "Partial duplication of the long arm of chromosome 14 syndrome", "ORPHA:3134": "SCARF syndrome", "ORPHA:262932": "Partial duplication of the long arm of chromosome 13 syndrome", "ORPHA:3121": "Ruvalcaba syndrome", "ORPHA:262842": "Partial duplication of the long arm of chromosome 2 syndrome", "ORPHA:262851": "Partial duplication of the long arm of chromosome 3 syndrome", "ORPHA:3118": "Rudiger syndrome", "ORPHA:262833": "Partial duplication of the long arm of chromosome 1 syndrome", "ORPHA:262878": "Partial duplication of the long arm of chromosome 6 syndrome", "ORPHA:262887": "Partial duplication of the long arm of chromosome 7 syndrome", "ORPHA:262860": "Partial duplication of the long arm of chromosome 4 syndrome", "ORPHA:3123": "Brittle hair syndrome, Sabinas type", "ORPHA:262869": "Partial duplication of the long arm of chromosome 5 syndrome", "ORPHA:3122": "OBSOLETE: Sinus node disease-myopia syndrome", "ORPHA:262767": "Partial duplication/triplication of the short arm of chromosome 9 syndrome", "ORPHA:3112": "Patella aplasia-coxa vara-tarsal synostosis syndrome", "ORPHA:262776": "Partial duplication of the short arm of chromosome 10 syndrome", "ORPHA:2909": "Rothmund-Thomson syndrome", "ORPHA:262749": "Partial duplication of the short arm of chromosome 7 syndrome", "ORPHA:3110": "Rombo syndrome", "ORPHA:262758": "Partial duplication of the short arm of chromosome 8 syndrome", "ORPHA:262803": "Partial duplication of the short arm of chromosome 17 syndrome", "ORPHA:431": "Ichthyosis-male hypogonadism syndrome", "ORPHA:262812": "Partial duplication/triplication of the short arm of chromosome 18 syndrome", "ORPHA:3115": "Roussy-Lévy syndrome", "ORPHA:262785": "Partial duplication of the short arm of chromosome 11 syndrome", "ORPHA:262794": "Partial duplication of the short arm of chromosome 16 syndrome", "ORPHA:3101": "Richieri Costa-da Silva syndrome", "ORPHA:262687": "Partial duplication of chromosome 19 syndrome", "ORPHA:3102": "Richieri Costa-Pereira syndrome", "ORPHA:262682": "Partial duplication/triplication of chromosome 18 syndrome", "ORPHA:3104": "Robin sequence-oligodactyly syndrome", "ORPHA:262698": "Partial duplication of the short arm of chromosome 2 syndrome", "ORPHA:3105": "Robinow-like syndrome", "ORPHA:262692": "Partial duplication of chromosome 20 syndrome", "ORPHA:3106": "Robinow-Sorauf syndrome", "ORPHA:262716": "Partial duplication of the short arm of chromosome 4 syndrome", "ORPHA:262707": "Partial duplication of the short arm of chromosome 3 syndrome", "ORPHA:3107": "Autosomal dominant Robinow syndrome", "ORPHA:262740": "Partial duplication of the short arm of chromosome 6 syndrome", "ORPHA:262725": "Partial duplication/triplication of the short arm of chromosome 5 syndrome", "ORPHA:3109": "Mayer-Rokitansky-Küster-Hauser syndrome", "ORPHA:262643": "Partial duplication/triplication of chromosome 9 syndrome", "ORPHA:262638": "Partial duplication of chromosome 8 syndrome", "ORPHA:3086": "Autosomal dominant vitreoretinochoroidopathy", "ORPHA:3087": "Retinohepatoendocrinologic syndrome", "ORPHA:262653": "Partial duplication of chromosome 11 syndrome", "ORPHA:3088": "Revesz syndrome", "ORPHA:262648": "Partial duplication of chromosome 10 syndrome", "ORPHA:3090": "Congenital pulmonary venous return anomaly", "ORPHA:262658": "Partial duplication/triplication of the short arm of chromosome 12 syndrome", "ORPHA:3097": "Meacham syndrome", "ORPHA:3098": "Rhizomelic syndrome, Urbach type", "ORPHA:262677": "Partial duplication of chromosome 17 syndrome", "ORPHA:262672": "Partial duplication of chromosome 16 syndrome", "ORPHA:262182": "Partial deletion of the long arm of chromosome 22 syndrome", "ORPHA:262191": "Partial duplication of chromosome 1 syndrome", "ORPHA:262196": "Partial duplication of chromosome 2 syndrome", "ORPHA:262201": "Partial duplication of chromosome 3 syndrome", "ORPHA:3078": "Severe X-linked intellectual disability, Gustavson type", "ORPHA:262206": "Partial duplication of chromosome 4 syndrome", "ORPHA:3077": "X-linked intellectual disability-psychosis-macroorchidism syndrome", "ORPHA:262211": "Partial duplication/triplication of chromosome 5 syndrome", "ORPHA:262628": "Partial duplication of chromosome 6 syndrome", "ORPHA:3080": "Intellectual disability, Wolff type", "ORPHA:262633": "Partial duplication of chromosome 7 syndrome", "ORPHA:3079": "Intellectual disability, Buenos-Aires type", "ORPHA:262110": "Partial deletion of the long arm of chromosome 14 syndrome", "ORPHA:3064": "OBSOLETE: X-linked intellectual disability, Wittner type", "ORPHA:3063": "X-linked intellectual disability, Snyder type", "ORPHA:262119": "Partial deletion of the long arm of chromosome 15 syndrome", "ORPHA:262128": "Partial deletion of the long arm of chromosome 16 syndrome", "ORPHA:3065": "X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome", "ORPHA:262137": "Partial deletion of the long arm of chromosome 17 syndrome", "ORPHA:262146": "Partial deletion of the long arm of chromosome 18 syndrome", "ORPHA:3068": "Intellectual disability-myopathy-short stature-endocrine defect syndrome", "ORPHA:262155": "Partial deletion of the long arm of chromosome 19 syndrome", "ORPHA:3067": "OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome", "ORPHA:262164": "Partial deletion of the long arm of chromosome 20 syndrome", "ORPHA:262173": "Partial deletion of the long arm of chromosome 21 syndrome", "ORPHA:268843": "Malformation of the neurenteric canal, spinal cord and column", "ORPHA:2886": "TARP syndrome", "ORPHA:268861": "Primary tethered cord syndrome", "ORPHA:2885": "Piebald trait-neurologic defects syndrome", "ORPHA:268838": "OBSOLETE: Leptomyelolipoma", "ORPHA:2884": "Piebaldism", "ORPHA:2881": "Cutaneous photosensitivity-lethal colitis syndrome", "ORPHA:268832": "OBSOLETE: Lipoma associated with neurospinal dysraphism", "ORPHA:2879": "Phocomelia, Schinzel type", "ORPHA:268835": "Lipomyelomeningocele", "ORPHA:2878": "OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome", "ORPHA:268826": "Parietal encephalocele", "ORPHA:268829": "Basal encephalocele", "ORPHA:2895": "Pinsky-Di George-Harley syndrome", "ORPHA:2894": "OBSOLETE: Pilotto syndrome", "ORPHA:268920": "Isolated megalencephaly", "ORPHA:268882": "Arnold-Chiari malformation type I", "ORPHA:2892": "Pilodental dysplasia-refractive errors syndrome", "ORPHA:2891": "Pili torti-developmental delay-neurological abnormalities syndrome", "ORPHA:268871": "OBSOLETE: Primary syringomyelia/hydromyelia", "ORPHA:2889": "Pili torti", "ORPHA:268874": "OBSOLETE: Congenital hydromyelia", "ORPHA:2890": "Pili torti-onychodysplasia syndrome", "ORPHA:268865": "Neurenteric cyst", "ORPHA:2888": "Pierre Robin syndrome-faciodigital anomaly syndrome", "ORPHA:268868": "Isolated amyelia", "ORPHA:268770": "OBSOLETE: Upper thoracic spina bifida cystica", "ORPHA:2865": "Short stature-webbed neck-heart disease syndrome", "ORPHA:2866": "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome", "ORPHA:268766": "OBSOLETE: Cervicothoracic spina bifida cystica", "ORPHA:2863": "Short stature-wormian bones-dextrocardia syndrome", "ORPHA:268762": "OBSOLETE: Cervical spina bifida cystica", "ORPHA:2864": "OBSOLETE: Short stature-prognathism-short femoral necks syndrome", "ORPHA:268758": "OBSOLETE: Lumbosacral spina bifida cystica", "ORPHA:268752": "OBSOLETE: Thoracolumbosacral spina bifida cystica", "ORPHA:2861": "OBSOLETE: Short stature-microcephaly-heart defect syndrome", "ORPHA:268748": "OBSOLETE: Total spina bifida cystica", "ORPHA:268744": "Spinal dysraphism with a posterior meningocele", "ORPHA:268740": "OBSOLETE: Upper thoracic spina bifida aperta", "ORPHA:2860": "OBSOLETE: Preeyasombat-Varavithya syndrome", "ORPHA:2875": "Phakomatosis pigmentovascularis", "ORPHA:268823": "Occipital encephalocele", "ORPHA:2876": "PHAVER syndrome", "ORPHA:268820": "Cranial meningocele", "ORPHA:268817": "Cephalocele", "ORPHA:2874": "Phakomatosis pigmentokeratotica", "ORPHA:268813": "Myelocystocele", "ORPHA:268810": "Isolated posterior meningocele", "ORPHA:2871": "Pfeiffer-Palm-Teller syndrome", "ORPHA:2872": "Cardiocranial syndrome, Pfeiffer type", "ORPHA:2867": "Short stature, Brussels type", "ORPHA:2868": "Short stature-valvular heart disease-characteristic facies syndrome", "ORPHA:2846": "Congenital pericardium anomaly", "ORPHA:2842": "Penoscrotal transposition", "ORPHA:2848": "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome", "ORPHA:2847": "Pericardial and diaphragmatic defect", "ORPHA:268357": "Neural tube closure defect", "ORPHA:2838": "Renal caliceal diverticuli-deafness syndrome", "ORPHA:268322": "Hereditary thrombocytopenia with normal platelets", "ORPHA:2837": "Pellagra-like skin rash-neurological manifestations syndrome", "ORPHA:2840": "Pelvic dysplasia-arthrogryposis of lower limbs syndrome", "ORPHA:2839": "Pelvis-shoulder dysplasia", "ORPHA:268337": "Autosomal recessive intermediate Charcot-Marie-Tooth disease", "ORPHA:268384": "OBSOLETE: Thoracolumbosacral spina bifida aperta", "ORPHA:2855": "Perrault syndrome", "ORPHA:2854": "Fuhrmann syndrome", "ORPHA:268388": "OBSOLETE: Lumbosacral spina bifida aperta", "ORPHA:268392": "OBSOLETE: Cervical spina bifida aperta", "ORPHA:708": "Peters anomaly", "ORPHA:268397": "OBSOLETE: Cervicothoracic spina bifida aperta", "ORPHA:268363": "Open iniencephaly", "ORPHA:268366": "Closed iniencephaly", "ORPHA:2850": "Alopecia-intellectual disability syndrome", "ORPHA:2853": "Serpentine fibula-polycystic kidneys syndrome", "ORPHA:268369": "Open spinal dysraphism", "ORPHA:268377": "OBSOLETE: Total spina bifida aperta", "ORPHA:268114": "RAS-associated autoimmune leukoproliferative disease", "ORPHA:2825": "PARC syndrome", "ORPHA:2826": "Spastic paraplegia-precocious puberty syndrome", "ORPHA:268139": "Intraocular medulloepithelioma", "ORPHA:268129": "Spheroid body myopathy", "ORPHA:2829": "Partington-Anderson syndrome", "ORPHA:2819": "Spastic paraplegia-facial-cutaneous lesions syndrome", "ORPHA:2820": "Spastic paraplegia-nephritis-deafness syndrome", "ORPHA:2821": "Spastic paraplegia-neuropathy-poikiloderma syndrome", "ORPHA:2822": "Autosomal recessive spastic paraplegia type 11", "ORPHA:2835": "Pectus excavatum-macrocephaly-dysplastic nails syndrome", "ORPHA:268261": "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion", "ORPHA:2836": "PEHO syndrome", "ORPHA:268249": "Mycophenolate mofetil embryopathy", "ORPHA:268316": "Complication in hemodialysis", "ORPHA:268162": "Intermediate maple syrup urine disease", "ORPHA:2832": "Short tarsus-absence of lower eyelashes syndrome", "ORPHA:268145": "Classic maple syrup urine disease", "ORPHA:268184": "Thiamine-responsive maple syrup urine disease", "ORPHA:2833": "Stiff skin syndrome", "ORPHA:2834": "Wrinkly skin syndrome", "ORPHA:268173": "Intermittent maple syrup urine disease", "ORPHA:2969": "Proteus-like syndrome", "ORPHA:2964": "Autosomal dominant prognathism", "ORPHA:2962": "De Barsy syndrome", "ORPHA:2973": "46,XX difference of sex development-anorectal anomalies syndrome", "ORPHA:2972": "Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome", "ORPHA:750": "Pseudoachondroplasia", "ORPHA:2976": "Pseudoleprechaunism syndrome, Patterson type", "ORPHA:2975": "46,XX difference of sex development-skeletal anomalies syndrome", "ORPHA:2980": "Acrootoocular syndrome", "ORPHA:2978": "Chronic intestinal pseudoobstruction", "ORPHA:264973": "Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis", "ORPHA:264968": "Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease", "ORPHA:2946": "Brachydactyly-long thumb syndrome", "ORPHA:1848": "Renal agenesis, bilateral", "ORPHA:264955": "OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood", "ORPHA:264949": "Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease", "ORPHA:2950": "Triphalangeal thumb-polysyndactyly syndrome", "ORPHA:2951": "Absent thumb-short stature-immunodeficiency syndrome", "ORPHA:264992": "Genetic interstitial lung disease", "ORPHA:2947": "Triphalangeal thumbs-brachyectrodactyly syndrome", "ORPHA:264984": "Exposure-related interstitial lung disease", "ORPHA:264978": "Drug or radiation exposure-related interstitial lung disease", "ORPHA:2956": "Acrodysplasia scoliosis", "ORPHA:2952": "Adducted thumbs-arthrogryposis syndrome, Christian type", "ORPHA:740": "Hutchinson-Gilford progeria syndrome", "ORPHA:2959": "Progeria-short stature-pigmented nevi syndrome", "ORPHA:2957": "Guttmacher syndrome", "ORPHA:2958": "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome", "ORPHA:2924": "Isolated polycystic liver disease", "ORPHA:264694": "Interstitial lung disease specific to infancy", "ORPHA:264699": "Secondary interstitial lung disease specific to childhood associated with a systemic disease", "ORPHA:264704": "Secondary interstitial lung disease specific to childhood associated with a connective tissue disease", "ORPHA:2926": "Digital extensor muscle aplasia-polyneuropathy", "ORPHA:264709": "Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis", "ORPHA:2925": "OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome", "ORPHA:264714": "Secondary interstitial lung disease specific to childhood associated with a granulomatous disease", "ORPHA:2928": "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome", "ORPHA:264719": "Secondary interstitial lung disease specific to childhood associated with a metabolic disease", "ORPHA:264724": "OBSOLETE: Langerhans cell histiocytosis specific to childhood", "ORPHA:2930": "Cronkhite-Canada syndrome", "ORPHA:264735": "Interstitial lung disease specific to adulthood", "ORPHA:264740": "Primary interstitial lung disease specific to adulthood", "ORPHA:2935": "Crossed polysyndactyly", "ORPHA:264745": "Secondary interstitial lung disease specific to adulthood associated with a systemic disease", "ORPHA:2934": "Polysyndactyly-cardiac malformation syndrome", "ORPHA:264750": "OBSOLETE: Langerhans cell histiocytosis specific to adulthood", "ORPHA:264757": "Interstitial lung disease in childhood and adulthood", "ORPHA:264762": "Primary interstitial lung disease in childhood and adulthood", "ORPHA:264930": "Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder", "ORPHA:2941": "Porencephaly-cerebellar hypoplasia-internal malformations syndrome", "ORPHA:264935": "Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder", "ORPHA:264944": "Secondary interstitial lung disease in childhood and adulthood", "ORPHA:2940": "Porencephaly", "ORPHA:2896": "Pitt-Hopkins syndrome", "ORPHA:2899": "Brachyolmia-amelogenesis imperfecta syndrome", "ORPHA:2900": "Leri pleonosteosis", "ORPHA:264431": "Partial duplication of the short arm of chromosome 1 syndrome", "ORPHA:2905": "POEMS syndrome", "ORPHA:264450": "Trisomy 8p syndrome", "ORPHA:2907": "Hereditary acrokeratotic poikiloderma", "ORPHA:2911": "Poland syndrome", "ORPHA:264580": "Glycogen storage disease due to liver phosphorylase kinase deficiency", "ORPHA:264656": "Interstitial lung disease specific to childhood", "ORPHA:2916": "Postaxial polydactyly-dental and vertebral anomalies syndrome", "ORPHA:264670": "Primary interstitial lung disease specific to childhood due to alveolar structure disorder", "ORPHA:2917": "Polydactyly-myopia syndrome", "ORPHA:264665": "Primary interstitial lung disease specific to childhood", "ORPHA:264683": "Primary interstitial lung disease specific to childhood due to alveolar vascular disorder", "ORPHA:2919": "Orofaciodigital syndrome type 5", "ORPHA:264675": "Hereditary pulmonary alveolar proteinosis", "ORPHA:2920": "Oliver syndrome", "ORPHA:264691": "Isolated pulmonary capillaritis", "ORPHA:2921": "Preaxial polydactyly-colobomata-intellectual disability syndrome", "ORPHA:264688": "Congenital chylothorax", "ORPHA:3374": "Unilateral ocular duplication", "ORPHA:275803": "Pulmonary arterial hypertension associated with congenital heart disease", "ORPHA:275808": "Pulmonary arterial hypertension associated with HIV infection", "ORPHA:275813": "Pulmonary arterial hypertension associated with portal hypertension", "ORPHA:1717": "Distal duplication 19q syndrome", "ORPHA:3377": "Trismus-pseudocamptodactyly syndrome", "ORPHA:275823": "Pulmonary arterial hypertension associated with schistosomiasis", "ORPHA:3368": "Trigonocephaly-bifid nose-acral anomalies syndrome", "ORPHA:275777": "Heritable pulmonary arterial hypertension", "ORPHA:275786": "Drug- or toxin-induced pulmonary arterial hypertension", "ORPHA:275791": "Pulmonary arterial hypertension associated with another disease", "ORPHA:3369": "Trigonocephaly-short stature-developmental delay syndrome", "ORPHA:275798": "Pulmonary arterial hypertension associated with connective tissue disease", "ORPHA:3363": "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome", "ORPHA:275749": "Beta-thalassemia and related diseases", "ORPHA:275752": "Sickle cell disease and related diseases", "ORPHA:3362": "OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome", "ORPHA:275761": "Lysosomal acid lipase deficiency", "ORPHA:3366": "Non-syndromic metopic craniosynostosis", "ORPHA:3365": "Trigonocephaly-broad thumbs syndrome", "ORPHA:275766": "Idiopathic pulmonary arterial hypertension", "ORPHA:275729": "Rare hemorrhagic disorder due to a constitutional thrombocytopenia", "ORPHA:275736": "Rare hemorrhagic disorder due to a qualitative platelet defect", "ORPHA:3357": "OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly", "ORPHA:3361": "Trichodysplasia-xeroderma syndrome", "ORPHA:275742": "Genetic infertility", "ORPHA:275745": "Alpha-thalassemia and related disorders", "ORPHA:3408": "Upington disease", "ORPHA:276148": "Benign epithelial tumor of salivary glands", "ORPHA:3409": "Urban-Rogers-Meyer syndrome", "ORPHA:276145": "Malignant epithelial tumor of salivary glands", "ORPHA:276161": "Multiple endocrine neoplasia", "ORPHA:3412": "VACTERL with hydrocephalus", "ORPHA:276152": "Multiple endocrine neoplasia type 4", "ORPHA:3391": "Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome", "ORPHA:276061": "Genetic frontotemporal degeneration with dementia", "ORPHA:3403": "Uhl anomaly", "ORPHA:276058": "Genetic neurodegenerative disease with dementia", "ORPHA:3404": "Ulbright-Hodes syndrome", "ORPHA:276142": "Rare tumor of salivary glands", "ORPHA:276066": "Bile acid CoA ligase deficiency and defective amidation", "ORPHA:275872": "Frontotemporal dementia with motor neuron disease", "ORPHA:3383": "Humerus trochlea aplasia", "ORPHA:3384": "Common arterial trunk", "ORPHA:275864": "Behavioral variant of frontotemporal dementia", "ORPHA:275944": "Hemolytic disease of the newborn with Kell alloimmunization", "ORPHA:3387": "Isolated anterior cervical hypertrichosis", "ORPHA:3388": "Neural tube defect", "ORPHA:275938": "Hemolytic disease due to fetomaternal alloimmunization", "ORPHA:275837": "Pulmonary hypertension owing to lung disease and/or hypoxia", "ORPHA:1723": "Mosaic trisomy 2 syndrome", "ORPHA:275828": "Pulmonary arterial hypertension associated with chronic hemolytic anemia", "ORPHA:1724": "Mosaic trisomy 20 syndrome", "ORPHA:275853": "Syndrome with pulmonary hypertension as a major feature", "ORPHA:1747": "Mosaic trisomy 7 syndrome", "ORPHA:275844": "Pulmonary hypertension with unclear multifactorial mechanism", "ORPHA:271841": "Genetic cardiac tumor", "ORPHA:3333": "Connective tissue dysplasia, Spellacy type", "ORPHA:271832": "Genetic soft tissue tumor", "ORPHA:3332": "Hypoplastic tibiae-postaxial polydactyly syndrome", "ORPHA:271835": "Genetic digestive tract tumor", "ORPHA:3329": "Tibial aplasia-ectrodactyly syndrome", "ORPHA:3328": "Absent tibia-polydactyly-arachnoid cyst syndrome", "ORPHA:3327": "Thyrocerebrorenal syndrome", "ORPHA:3326": "Thymic-renal-anal-lung dysplasia", "ORPHA:3323": "Braddock-Carey syndrome", "ORPHA:3322": "Hoyeraal-Hreidarsson syndrome", "ORPHA:3317": "Thoracolaryngopelvic dysplasia", "ORPHA:3316": "Thomas syndrome", "ORPHA:3314": "Thiemann disease, familial form", "ORPHA:3313": "OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome", "ORPHA:3355": "Trichoodontoonychial dysplasia", "ORPHA:275555": "Preeclampsia", "ORPHA:275543": "L1 syndrome", "ORPHA:3353": "Trichodermodysplasia-dental alterations syndrome", "ORPHA:275534": "OBSOLETE: Myostatin-related muscle hypertrophy", "ORPHA:3354": "OBSOLETE: Tricho-oculo-dermo-vertebral syndrome", "ORPHA:275523": "Dianzani autoimmune lymphoproliferative disease", "ORPHA:3351": "Trichodental syndrome", "ORPHA:275517": "Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency", "ORPHA:3352": "Tricho-dento-osseous syndrome", "ORPHA:3349": "Treft-Sanborn-Carey syndrome", "ORPHA:3350": "Tremor-nystagmus-duodenal ulcer syndrome", "ORPHA:3344": "Weismann-Netter syndrome", "ORPHA:3347": "Mounier-Kühn syndrome", "ORPHA:3341": "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome", "ORPHA:271870": "Rare genetic systemic or rheumatologic disease", "ORPHA:3342": "Arterial tortuosity syndrome", "ORPHA:3339": "Oculoectodermal syndrome", "ORPHA:271861": "Hereditary ATTR amyloidosis", "ORPHA:3340": "OBSOLETE: Torres-Aybar syndrome", "ORPHA:271853": "Genetic cardiac anomaly", "ORPHA:3336": "TomÚ-Brunet-Fardeau syndrome", "ORPHA:271847": "Genetic neuroendocrine tumor", "ORPHA:3338": "Toriello-Carey syndrome", "ORPHA:271844": "Genetic urogenital tumor", "ORPHA:3469": "XK aprosencephaly syndrome", "ORPHA:269567": "Genetic syndrome with a cerebellar malformation as a major feature", "ORPHA:269570": "Genetic syndrome with a Dandy-Walker malformation as a major feature", "ORPHA:3472": "Yunis-Varon syndrome", "ORPHA:269573": "Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature", "ORPHA:3471": "Young syndrome", "ORPHA:3319": "Congenital amegakaryocytic thrombocytopenia", "ORPHA:3473": "Zimmermann-Laband syndrome", "ORPHA:3459": "Wilson-Turner syndrome", "ORPHA:269531": "Other syndrome with a central nervous system malformation as a major feature", "ORPHA:269546": "Syndrome with a Dandy-Walker malformation as a major feature", "ORPHA:3460": "Torg-Winchester syndrome", "ORPHA:269550": "Genetic non-syndromic central nervous system malformation", "ORPHA:3464": "Woodhouse-Sakati syndrome", "ORPHA:269553": "Genetic cerebral malformation", "ORPHA:269557": "Genetic posterior fossa malformation", "ORPHA:3466": "WT limb-blood syndrome", "ORPHA:269560": "Genetic cerebellar malformation", "ORPHA:3465": "Worster-Drought syndrome", "ORPHA:269564": "Genetic syndrome with a central nervous system malformation as a major feature", "ORPHA:2749": "Oromandibular-limb hypogenesis syndrome", "ORPHA:2995": "Baraitser-Winter cerebrofrontofacial syndrome", "ORPHA:3013": "Radiculomegaly of canine teeth- congenital cataract", "ORPHA:3200": "Arthrogryposis-ectodermal dysplasia syndrome", "ORPHA:1570": "Symbrachydactyly of hands and feet", "ORPHA:3243": "Sweet syndrome", "ORPHA:1827": "Acromelic frontonasal dysplasia", "ORPHA:2352": "Kozlowski-Brown-Hardwick syndrome", "ORPHA:2076": "X-linked intellectual disability-epilepsy syndrome", "ORPHA:268980": "Isolated focal cortical dysplasia type Ib", "ORPHA:268987": "Isolated focal cortical dysplasia type Ic", "ORPHA:3424": "Velo-facial-skeletal syndrome", "ORPHA:3423": "Vasquez-Hurst-Sotos syndrome", "ORPHA:268973": "Isolated focal cortical dysplasia type Ia", "ORPHA:269008": "Isolated focal cortical dysplasia type IIb", "ORPHA:3433": "Microcephaly-brachydactyly-kyphoscoliosis syndrome", "ORPHA:269190": "Encephaloclastic disorder", "ORPHA:268994": "Isolated focal cortical dysplasia type II", "ORPHA:3429": "Verloove Vanhorick-Brubakk syndrome", "ORPHA:269001": "Isolated focal cortical dysplasia type IIa", "ORPHA:2460": "Van den Ende-Gupta syndrome", "ORPHA:268940": "Bilateral polymicrogyria", "ORPHA:268943": "Unilateral polymicrogyria", "ORPHA:3416": "Hyperostosis corticalis generalisata", "ORPHA:1244": "NON RARE IN EUROPE: Bicuspid aortic valve", "ORPHA:268926": "Midline cerebral malformation", "ORPHA:268936": "Isolated arhinencephaly", "ORPHA:3421": "Cerebroretinal vasculopathy", "ORPHA:3419": "OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome", "ORPHA:268961": "Isolated focal cortical dysplasia type I", "ORPHA:268947": "Unilateral focal polymicrogyria", "ORPHA:3417": "Van den Bosch syndrome", "ORPHA:268950": "Cerebral cortical dysplasia", "ORPHA:3450": "Weissenbacher-Zweymuller syndrome", "ORPHA:269229": "Pontine tegmental cap dysplasia", "ORPHA:3453": "Autoimmune polyendocrinopathy type 1", "ORPHA:269224": "Global cerebellar malformation", "ORPHA:3448": "Weaver-Williams syndrome", "ORPHA:269221": "Isolated bilateral hemispheric cerebellar hypoplasia", "ORPHA:3449": "Weill-Marchesani syndrome", "ORPHA:269218": "Isolated unilateral hemispheric cerebellar hypoplasia", "ORPHA:3456": "Wildervanck syndrome", "ORPHA:269528": "Syndrome with microcephaly as a major feature", "ORPHA:269523": "Syndrome with a cerebellar malformation as a major feature", "ORPHA:269510": "Congenital non-communicating hydrocephalus", "ORPHA:3454": "Wieacker-Wolff syndrome", "ORPHA:3455": "Wiedemann-Rautenstrauch syndrome", "ORPHA:269505": "Congenital communicating hydrocephalus", "ORPHA:269203": "Isolated cerebellar vermis agenesis", "ORPHA:269200": "OBSOLETE: Retrocerebellar cyst", "ORPHA:3438": "Biliary tract malformation-renal failure syndrome", "ORPHA:269197": "Glioependymal/ependymal cyst", "ORPHA:3434": "MMEP syndrome", "ORPHA:269194": "Central nervous system cystic malformation", "ORPHA:269215": "Isolated Dandy-Walker malformation without hydrocephalus", "ORPHA:3446": "Weaver-like syndrome", "ORPHA:269212": "Isolated Dandy-Walker malformation with hydrocephalus", "ORPHA:269209": "Isolated partial cerebellar vermis agenesis", "ORPHA:269206": "Isolated total cerebellar vermis agenesis", "ORPHA:1856": "Spondyloperipheral dysplasia-short ulna syndrome", "ORPHA:280315": "Autoimmune pancreatitis type 2", "ORPHA:3181": "Sprengel deformity", "ORPHA:280302": "Autoimmune pancreatitis type 1", "ORPHA:280333": "Alpha-dystroglycan-related limb-girdle muscular dystrophy R16", "ORPHA:280325": "Distal deletion 12p syndrome", "ORPHA:280293": "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation", "ORPHA:280288": "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation", "ORPHA:280369": "Rare pediatric vasculitis", "ORPHA:3194": "Corneodermatoosseous syndrome", "ORPHA:3195": "Sternal malformation-vascular dysplasia syndrome", "ORPHA:280365": "Autosomal semi-dominant severe lipodystrophic laminopathy", "ORPHA:280379": "Erythropoietic uroporphyria associated with myeloid malignancy", "ORPHA:3197": "Hereditary hyperekplexia", "ORPHA:3199": "Stimmler syndrome", "ORPHA:280373": "Rare pediatric systemic disease", "ORPHA:3184": "Steatocystoma multiplex-natal teeth syndrome", "ORPHA:280342": "Rare systemic or rheumatological disease of childhood", "ORPHA:3186": "Holoprosencephaly-radial heart renal anomalies syndrome", "ORPHA:3191": "Subaortic stenosis-short stature syndrome", "ORPHA:3193": "Supravalvular aortic stenosis", "ORPHA:280356": "PLIN1-related familial partial lipodystrophy", "ORPHA:3214": "Deaf blind hypopigmentation syndrome, Yemenite type", "ORPHA:280400": "Inherited human prion disease", "ORPHA:280403": "Familial omphalocele syndrome with facial dysmorphism", "ORPHA:3213": "Deafness-opticoacoustic nerve atrophy-dementia syndrome", "ORPHA:280406": "Familial steroid-resistant nephrotic syndrome with sensorineural deafness", "ORPHA:3215": "OBSOLETE: Deafness-white hair-contractures-papillomas syndrome", "ORPHA:3210": "Summitt syndrome", "ORPHA:3201": "Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome", "ORPHA:280384": "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome", "ORPHA:3212": "Autosomal dominant optic atrophy and congenital deafness", "ORPHA:280397": "Familial Alzheimer-like prion disease", "ORPHA:280576": "Nestor-Guillermo progeria syndrome", "ORPHA:3220": "Deafness-enamel hypoplasia-nail defects syndrome", "ORPHA:3219": "Fountain syndrome", "ORPHA:3222": "Phosphoribosylpyrophosphate synthetase superactivity", "ORPHA:280586": "Chondrodysplasia with joint dislocations, gPAPP type", "ORPHA:3221": "Generalized resistance to thyroid hormone", "ORPHA:3217": "Deafness-small bowel diverticulosis-neuropathy syndrome", "ORPHA:280553": "Fatal infantile hypertonic myofibrillar myopathy", "ORPHA:280558": "Warsaw breakage syndrome", "ORPHA:3216": "Conductive deafness-malformed external ear syndrome", "ORPHA:3218": "Deafness-epiphyseal dysplasia-short stature syndrome", "ORPHA:280569": "OBSOLETE: Rapidly progressive glomerulonephritis", "ORPHA:280065": "Calciphylaxis cutis", "ORPHA:647": "Nijmegen breakage syndrome", "ORPHA:280062": "Calciphylaxis", "ORPHA:279947": "Postorgasmic illness syndrome", "ORPHA:3153": "NON RARE IN EUROPE: Adolescent idiopathic scoliosis", "ORPHA:279943": "Hereditary neutrophilia", "ORPHA:279934": "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency", "ORPHA:3152": "Sclerosteosis", "ORPHA:279928": "Paraneoplastic uveitis", "ORPHA:279925": "Infectious panuveitis", "ORPHA:279922": "Infectious anterior uveitis", "ORPHA:280142": "Severe combined immunodeficiency due to LCK deficiency", "ORPHA:3164": "Omphalocele syndrome, Shprintzen-Goldberg type", "ORPHA:3168": "Sillence syndrome", "ORPHA:280133": "Complement component 3 deficiency", "ORPHA:3163": "SHORT syndrome", "ORPHA:280110": "NON RARE IN EUROPE: Paget disease of bone", "ORPHA:1479": "Atrial septal defect-atrioventricular conduction defects syndrome", "ORPHA:3156": "Senior-Loken syndrome", "ORPHA:280071": "ALG11-CDG", "ORPHA:280068": "Visceral calciphylaxis", "ORPHA:3157": "Septo-optic dysplasia spectrum", "ORPHA:3180": "Spondylocamptodactyly syndrome", "ORPHA:280210": "Pelizaeus-Merzbacher disease, connatal form", "ORPHA:280219": "Pelizaeus-Merzbacher disease, classic form", "ORPHA:280200": "Microform holoprosencephaly", "ORPHA:3177": "Spinocerebellar degeneration-corneal dystrophy syndrome", "ORPHA:280205": "Laryngotracheoesophageal cleft type 0", "ORPHA:3175": "X-linked spasticity-intellectual disability-epilepsy syndrome", "ORPHA:280195": "Septopreoptic holoprosencephaly", "ORPHA:3172": "Eyebrow duplication-syndactyly syndrome", "ORPHA:280183": "Methylmalonic aciduria due to transcobalamin receptor defect", "ORPHA:280282": "Pelizaeus-Merzbacher-like disease due to GJC2 mutation", "ORPHA:280270": "Pelizaeus-Merzbacher-like disease", "ORPHA:252": "OBSOLETE: Spondyloepimetaphyseal dysplasia", "ORPHA:280234": "Null syndrome", "ORPHA:1855": "Spondyloenchondrodysplasia", "ORPHA:280224": "Pelizaeus-Merzbacher disease, transitional form", "ORPHA:1797": "Autosomal dominant spondylocostal dysostosis", "ORPHA:280229": "Pelizaeus-Merzbacher disease in female carriers", "ORPHA:276580": "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency", "ORPHA:3258": "Cenani-Lenz syndrome", "ORPHA:276575": "Autosomal dominant hyperinsulinism due to SUR1 deficiency", "ORPHA:3262": "Dobrow syndrome", "ORPHA:276598": "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency", "ORPHA:276585": "Diazoxide-resistant hyperinsulinism", "ORPHA:276608": "Non-insulinoma pancreatogenous hypoglycemia syndrome", "ORPHA:3265": "Isolated humero-radial synostosis", "ORPHA:276603": "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency", "ORPHA:3266": "Isolated humero-radio-ulnar synostosis", "ORPHA:276624": "OBSOLETE: Sporadic pheochromocytoma", "ORPHA:3267": "OBSOLETE: Familial lambdoid synostosis", "ORPHA:276621": "Sporadic pheochromocytoma/secreting paraganglioma", "ORPHA:3268": "Radioulnar synostosis-microcephaly-scoliosis syndrome", "ORPHA:276630": "Symptomatic form of Coffin-Lowry syndrome in female carriers", "ORPHA:3270": "Radioulnar synostosis-developmental delay-hypotonia syndrome", "ORPHA:276627": "OBSOLETE: Sporadic secreting paraganglioma", "ORPHA:3274": "Granulomatous arthritis of childhood", "ORPHA:3275": "Spondylocarpotarsal synostosis", "ORPHA:3284": "OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome", "ORPHA:425": "Apolipoprotein A-I deficiency", "ORPHA:3289": "NON RARE IN EUROPE: Taurodontism", "ORPHA:3291": "Teebi-Shaltout syndrome", "ORPHA:3293": "Telecanthus-hypertelorism-strabismus-pes cavus syndrome", "ORPHA:3292": "Tel Hashomer camptodactyly syndrome", "ORPHA:279882": "Spasmus nutans", "ORPHA:3294": "Extensor tendons of finger anomalies", "ORPHA:279888": "Acute endophthalmitis", "ORPHA:279891": "Chronic endophthalmitis", "ORPHA:279894": "Toxic maculopathy due to antimalarial drugs", "ORPHA:3301": "Tetraamelia-multiple malformations syndrome", "ORPHA:279897": "Primary oculocerebral lymphoma", "ORPHA:279904": "Primary intraocular lymphoma", "ORPHA:279911": "Primary organ-specific lymphoma", "ORPHA:3304": "Fallot complex-intellectual disability-growth delay syndrome", "ORPHA:3312": "Thalidomide embryopathy", "ORPHA:279914": "Intermediate uveitis", "ORPHA:3311": "OBSOLETE: Infantile symmetrical thalamic degeneration", "ORPHA:279919": "Infectious posterior uveitis", "ORPHA:276198": "Spinocerebellar ataxia type 36", "ORPHA:3225": "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome", "ORPHA:276193": "Spinocerebellar ataxia type 35", "ORPHA:3226": "Deafness-lymphedema-leukemia syndrome", "ORPHA:276183": "Spinocerebellar ataxia type 32", "ORPHA:3224": "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome", "ORPHA:276174": "Idiopathic recurrent stupor", "ORPHA:276238": "Machado-Joseph disease type 1", "ORPHA:3229": "OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome", "ORPHA:276234": "Non-syndromic male infertility due to sperm motility disorder", "ORPHA:276223": "Mucopolysaccharidosis type 6, slowly progressing", "ORPHA:3228": "OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome", "ORPHA:276212": "Mucopolysaccharidosis type 6, rapidly progressing", "ORPHA:276252": "OBSOLETE: Xeroderma pigmentosum complementation group B", "ORPHA:3230": "Deafness-oligodontia syndrome", "ORPHA:276249": "OBSOLETE: Xeroderma pigmentosum complementation group A", "ORPHA:3231": "Deafness-onychodystrophy syndrome", "ORPHA:276244": "Machado-Joseph disease type 3", "ORPHA:276241": "Machado-Joseph disease type 2", "ORPHA:3235": "Progressive deafness with stapes fixation", "ORPHA:276264": "OBSOLETE: Xeroderma pigmentosum complementation group F", "ORPHA:276261": "OBSOLETE: Xeroderma pigmentosum complementation group E", "ORPHA:3236": "Conductive deafness-ptosis-skeletal anomalies syndrome", "ORPHA:276258": "OBSOLETE: Xeroderma pigmentosum complementation group D", "ORPHA:3232": "Deafness-ear malformation-facial palsy syndrome", "ORPHA:276255": "OBSOLETE: Xeroderma pigmentosum complementation group C", "ORPHA:3233": "Cochleosaccular degeneration-cataract syndrome", "ORPHA:3241": "Deafness-craniofacial syndrome", "ORPHA:276280": "Hemihyperplasia-multiple lipomatosis syndrome", "ORPHA:276399": "Familial multinodular goiter", "ORPHA:3239": "Deafness-vitiligo-achalasia syndrome", "ORPHA:276267": "OBSOLETE: Xeroderma pigmentosum complementation group G", "ORPHA:3238": "Cardiospondylocarpofacial syndrome", "ORPHA:276271": "NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia", "ORPHA:3237": "Multiple synostoses syndrome", "ORPHA:3246": "Symphalangism with multiple anomalies of hands and feet", "ORPHA:276413": "10q22.3q23.3 microdeletion syndrome", "ORPHA:276402": "OBSOLETE: Limbic encephalitis with caspr2 antibodies", "ORPHA:3242": "Renpenning syndrome", "ORPHA:276405": "Hyperbiliverdinemia", "ORPHA:3250": "Proximal symphalangism", "ORPHA:3248": "Isolated distal symphalangism", "ORPHA:276422": "10q22.3q23.3 microduplication syndrome", "ORPHA:276429": "Hypnic headache", "ORPHA:276525": "Familial hyperinsulinism", "ORPHA:3255": "Filippi syndrome", "ORPHA:276556": "Hyperinsulinism due to UCP2 deficiency", "ORPHA:276432": "Ogden syndrome", "ORPHA:3253": "Cleft lip/palate-ectodermal dysplasia syndrome", "ORPHA:276435": "Lower motor neuron syndrome with late-adult onset", "ORPHA:911": "Combined immunodeficiency due to ZAP70 deficiency", "ORPHA:3325": "Heparin-induced thrombocytopenia", "ORPHA:746": "Mitochondrial trifunctional protein deficiency", "ORPHA:943": "Malonic aciduria", "ORPHA:621": "Hereditary methemoglobinemia", "ORPHA:1002": "NON RARE IN EUROPE: Cluster headache", "ORPHA:2089": "Glycogen storage disease due to hepatic glycogen synthase deficiency", "ORPHA:412": "Dysbetalipoproteinemia", "ORPHA:743": "Severe hereditary thrombophilia due to congenital protein S deficiency", "ORPHA:424": "Familial hyperthyroidism due to mutations in TSH receptor", "ORPHA:325": "Congenital factor II deficiency", "ORPHA:343": "Hyperimmunoglobulinemia D with periodic fever", "ORPHA:572": "Immunodeficiency by defective expression of MHC class II", "ORPHA:3324": "Familial thrombomodulin anomalies", "ORPHA:1930": "Herpes simplex virus encephalitis", "ORPHA:158": "Systemic primary carnitine deficiency", "ORPHA:202948": "Syndromic microphthalmia-anophthalmia-coloboma", "ORPHA:202940": "Anomaly of puberty or/and menstrual cycle of genetic origin", "ORPHA:2056": "Essential fructosuria", "ORPHA:206436": "Infantile Krabbe disease", "ORPHA:820": "Sneddon syndrome", "ORPHA:206428": "Hypoxanthine-guanine phosphoribosyltransferase deficiency", "ORPHA:1945": "Self-limited epilepsy with centrotemporal spikes", "ORPHA:440": "OBSOLETE: Familial hypospadias", "ORPHA:832": "Succinyl-CoA:3-oxoacid CoA transferase deficiency", "ORPHA:6": "3-methylcrotonyl-CoA carboxylase deficiency", "ORPHA:20": "3-hydroxy-3-methylglutaric aciduria", "ORPHA:714": "Hemolytic anemia due to diphosphoglycerate mutase deficiency", "ORPHA:712": "Hemolytic anemia due to glucophosphate isomerase deficiency", "ORPHA:2831": "Rhizomelic dysplasia, Patterson-Lowry type", "ORPHA:1129": "Arachnodactyly-abnormal ossification-intellectual disability syndrome", "ORPHA:206546": "Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers", "ORPHA:1383": "Cataract-deafness-hypogonadism syndrome", "ORPHA:206538": "Malignant non-dysgerminomatous germ cell tumor of ovary", "ORPHA:206554": "Fukutin-related limb-girdle muscular dystrophy R13", "ORPHA:1849": "OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome", "ORPHA:1524": "Craniomicromelic syndrome", "ORPHA:206549": "Anoctamin-5-related limb-girdle muscular dystrophy R12", "ORPHA:1123": "Caudal appendage-deafness syndrome", "ORPHA:206564": "POMGNT1-related limb-girdle muscular dystrophy R15", "ORPHA:206559": "POMT2-related limb-girdle muscular dystrophy R14", "ORPHA:206572": "Overlap myositis", "ORPHA:3263": "Syngnathia-cleft palate syndrome", "ORPHA:206569": "Immune-mediated necrotizing myopathy", "ORPHA:206580": "Autosomal recessive lower motor neuron disease with childhood onset", "ORPHA:206575": "Rippling muscle disease with myasthenia gravis", "ORPHA:206443": "Late-infantile/juvenile Krabbe disease", "ORPHA:3439": "Von Voss-Cherstvoy syndrome", "ORPHA:206448": "Adult Krabbe disease", "ORPHA:206470": "Cystadenoma of childhood", "ORPHA:1217": "Spinal atrophy-ophthalmoplegia-pyramidal syndrome", "ORPHA:206473": "OBSOLETE: Borderline epithelial tumor of ovary", "ORPHA:2680": "Hypomyelination neuropathy-arthrogryposis syndrome", "ORPHA:206484": "Gonadoblastoma", "ORPHA:1681": "Diprosopus", "ORPHA:206489": "Malignant germ cell tumor of the vagina", "ORPHA:206492": "Vulvovaginal rhabdomyosarcoma", "ORPHA:1534": "OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type", "ORPHA:1655": "Müllerian derivatives-lymphangiectasia-polydactyly syndrome", "ORPHA:206701": "Bulbospinal muscular atrophy", "ORPHA:633": "Laron syndrome", "ORPHA:669": "OBSOLETE: Otopalatodigital syndrome", "ORPHA:206662": "Inclusion myopathy", "ORPHA:206659": "OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly", "ORPHA:478": "Kallmann syndrome", "ORPHA:206713": "OBSOLETE: Distal spinal muscular atrophy", "ORPHA:206710": "Generalized bulbospinal muscular atrophy", "ORPHA:206707": "Bulbospinal muscular atrophy of adult", "ORPHA:822": "Hereditary spherocytosis", "ORPHA:910": "Xeroderma pigmentosum", "ORPHA:206704": "Bulbospinal muscular atrophy of childhood", "ORPHA:229": "Familial aortic dissection", "ORPHA:206966": "Mitochondrial myopathy", "ORPHA:279": "NON RARE IN EUROPE: Age-related macular degeneration", "ORPHA:206959": "Muscular glycogenosis", "ORPHA:777": "X-linked non-syndromic intellectual disability", "ORPHA:206953": "Muscular lipidosis", "ORPHA:766": "Hemolytic anemia due to red cell pyruvate kinase deficiency", "ORPHA:206979": "OBSOLETE: Granulomatous myositis", "ORPHA:206976": "Periodic paralysis", "ORPHA:411": "Hyperlipoproteinemia type 1", "ORPHA:28": "Vitamin B12-responsive methylmalonic acidemia", "ORPHA:206973": "Congenital myotonia", "ORPHA:206970": "Myotonic syndrome", "ORPHA:206594": "Subacute inflammatory demyelinating polyneuropathy", "ORPHA:206599": "Isolated asymptomatic elevation of creatine phosphokinase", "ORPHA:3206": "Stüve-Wiedemann syndrome", "ORPHA:206583": "Adult polyglucosan body disease", "ORPHA:206586": "Neurolymphomatosis", "ORPHA:206613": "Infectious disease with peripheral neuropathy", "ORPHA:2729": "Okamoto syndrome", "ORPHA:206616": "OBSOLETE: Acquired metabolic neuropathy", "ORPHA:206606": "OBSOLETE: Other muscle weakness and/or chronic muscle pain", "ORPHA:1844": "OBSOLETE: Bone dysplasia, Azouz type", "ORPHA:206610": "OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain", "ORPHA:206638": "Acquired skeletal muscle disease", "ORPHA:65": "Leber congenital amaurosis", "ORPHA:206644": "Progressive muscular dystrophy", "ORPHA:206619": "OBSOLETE: Toxic or/and iatrogenic neuropathy", "ORPHA:206634": "Genetic skeletal muscle disease", "ORPHA:206653": "Autosomal recessive distal myopathy", "ORPHA:321": "Multiple osteochondromas", "ORPHA:206656": "Non-dystrophic myopathy", "ORPHA:144": "Lynch syndrome", "ORPHA:206647": "Myotonic dystrophy", "ORPHA:206650": "Autosomal dominant distal myopathy", "ORPHA:110": "Bardet-Biedl syndrome", "ORPHA:207085": "Qualitative or quantitative defects of dystrophin", "ORPHA:2756": "OBSOLETE: Orofaciodigital syndrome type 10", "ORPHA:207090": "Qualitative or quantitative defects of collagen 6", "ORPHA:3095": "Atypical Rett syndrome", "ORPHA:207094": "Laminin subunit alpha 2-related muscular dystrophy", "ORPHA:2326": "Kallmann syndrome-heart disease syndrome", "ORPHA:207098": "Qualitative or quantitative defects of integrin alpha-7", "ORPHA:378": "NON RARE IN EUROPE: Sjögren syndrome", "ORPHA:207067": "Qualitative or quantitative defects of gamma-sarcoglycan", "ORPHA:1130": "Arachnodactyly-intellectual disability-dysmorphism syndrome", "ORPHA:207070": "Qualitative or quantitative defects of delta-sarcoglycan", "ORPHA:207073": "Qualitative or quantitative defects of dysferlin", "ORPHA:2626": "OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome", "ORPHA:207078": "Qualitative or quantitative defects of caveolin-3", "ORPHA:3207": "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome", "ORPHA:207049": "Qualitative or quantitative protein defects in neuromuscular diseases", "ORPHA:936": "Succinic acidemia", "ORPHA:207052": "Qualitative or quantitative defects of sarcoglycan", "ORPHA:207060": "Qualitative or quantitative defects of alpha-sarcoglycan", "ORPHA:207063": "Qualitative or quantitative defects of beta-sarcoglycan", "ORPHA:2244": "Hypopituitarism-microphthalmia syndrome", "ORPHA:207031": "OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy", "ORPHA:207038": "Acute and subacute inflammatory demyelinating polyneuropathy", "ORPHA:2058": "Fryns-Smeets-Thiry syndrome", "ORPHA:2538": "Microgastria-limb reduction defect syndrome", "ORPHA:1192": "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome", "ORPHA:207046": "Malignant lymphoma with peripheral neuropathy", "ORPHA:207021": "Rare hereditary systemic disease with peripheral neuropathy", "ORPHA:2062": "Progressive non-infectious anterior vertebral fusion", "ORPHA:207018": "Rare hereditary metabolic disease with peripheral neuropathy", "ORPHA:2015": "Cleft palate-short stature-vertebral anomalies syndrome", "ORPHA:207028": "Cerebellar ataxia with peripheral neuropathy", "ORPHA:2427": "Macrocephaly-short stature-paraplegia syndrome", "ORPHA:207025": "Rare hereditary neurologic disease with peripheral neuropathy", "ORPHA:2898": "X-linked intellectual disability-plagiocephaly syndrome", "ORPHA:207009": "OBSOLETE: Acquired rod-body myopathy", "ORPHA:207006": "OBSOLETE: Acquired amyloid myopathy", "ORPHA:1474": "Colobomatous-microphthalmia-heart disease-hearing loss syndrome", "ORPHA:207015": "Rare hereditary disease with peripheral neuropathy", "ORPHA:207012": "Spinal muscular atrophy associated with central nervous system anomaly", "ORPHA:206997": "Parasitic myositis", "ORPHA:1789": "OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome", "ORPHA:206994": "Bacterial myositis", "ORPHA:207003": "OBSOLETE: Endocrine myopathy", "ORPHA:207000": "Fungal myositis", "ORPHA:2349": "Muscular pseudohypertrophy-hypothyroidism syndrome", "ORPHA:206985": "OBSOLETE: Drug and/or toxic myopathy", "ORPHA:1423": "Lethal recessive chondrodysplasia", "ORPHA:2183": "Hydrocephalus-obesity-hypogonadism syndrome", "ORPHA:206982": "Muscular tumor", "ORPHA:206991": "Viral myositis", "ORPHA:206988": "Infectious, fungal or parasitic myopathy", "ORPHA:209007": "Systemic inflammatory disease associated with an acquired peripheral neuropathy", "ORPHA:209010": "Peripheral neuropathy associated with monoclonal gammopathy", "ORPHA:1114": "Aplasia cutis congenita", "ORPHA:208999": "Paraneoplastic sensory ganglionopathy", "ORPHA:3271": "Radio-ulnar synostosis-retinal pigment abnormalities syndrome", "ORPHA:209004": "Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy", "ORPHA:1530": "OBSOLETE: Craniosynostosis-cataract syndrome", "ORPHA:208989": "Non-paraneoplastic sensory ganglionopathy", "ORPHA:208994": "OBSOLETE: Other ganglionopathy related to autoimmune diseases", "ORPHA:208981": "OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies", "ORPHA:208984": "Acquired sensory ganglionopathy", "ORPHA:1894": "Ectrodactyly-spina bifida-cardiopathy syndrome", "ORPHA:208974": "Chronic acquired demyelinating polyneuropathy", "ORPHA:1101": "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome", "ORPHA:208978": "Chronic polyradiculoneuropathy", "ORPHA:208600": "OBSOLETE: Papillary fibroelastoma of the heart", "ORPHA:2184": "Hydrocephaly-low insertion umbilicus syndrome", "ORPHA:208650": "NLRP3-associated autoinflammatory disease", "ORPHA:1779": "Dysmorphism-cleft palate-loose skin syndrome", "ORPHA:1272": "Aymé-Gripp syndrome", "ORPHA:208593": "Genetic hypoparathyroidism", "ORPHA:208596": "Genetic hyperparathyroidism", "ORPHA:208513": "Spinocerebellar ataxia type 29", "ORPHA:3331": "OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome", "ORPHA:208524": "Herpetiform pemphigus", "ORPHA:1485": "Arthrogryposis-hyperkeratosis syndrome, lethal form", "ORPHA:208508": "Autosomal dominant cerebellar ataxia type II", "ORPHA:208447": "Bilateral generalized polymicrogyria", "ORPHA:3051": "Nicolaides-Baraitser syndrome", "ORPHA:208444": "Bilateral frontal polymicrogyria", "ORPHA:208441": "Bilateral parasagittal parieto-occipital polymicrogyria", "ORPHA:1134": "Isolated arrhinia", "ORPHA:1664": "OBSOLETE: Embryonary disorganization syndrome", "ORPHA:1768": "Familial caudal dysgenesis", "ORPHA:207122": "Qualitative or quantitative defects of fukutin", "ORPHA:2204": "Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type", "ORPHA:207119": "Qualitative or quantitative defects of FKRP", "ORPHA:207113": "Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", "ORPHA:2963": "Progeroid syndrome, Petty type", "ORPHA:207110": "Qualitative or quantitative defects of myotubularin", "ORPHA:207107": "Qualitative or quantitative defects of TRIM32", "ORPHA:2619": "Brachydactylous dwarfism, Mseleni type", "ORPHA:207104": "Qualitative or quantitative defects of calpain", "ORPHA:207101": "Qualitative or quantitative defects of perlecan", "ORPHA:1541": "Craniosynostosis, Boston type", "ORPHA:1415": "Hardikar syndrome", "ORPHA:2151": "Hirschsprung disease-ganglioneuroblastoma syndrome", "ORPHA:2653": "OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome", "ORPHA:209335": "Autosomal dominant adult-onset proximal spinal muscular atrophy", "ORPHA:209341": "DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy", "ORPHA:209185": "Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", "ORPHA:1773": "Sacrococcygeal dysgenesis association", "ORPHA:209188": "Qualitative or quantitative defects of emerin", "ORPHA:3167": "Siegler-Brewer-Carey syndrome", "ORPHA:209193": "Qualitative or quantitative defects of selenoprotein N1", "ORPHA:209196": "Qualitative or quantitative defects of plectin", "ORPHA:209199": "Qualitative or quantitative defects of protein SERCA1", "ORPHA:209203": "Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -", "ORPHA:209224": "Myotilinopathy", "ORPHA:209044": "Qualitative or quantitative defects of alphaB-cristallin", "ORPHA:1277": "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome", "ORPHA:209041": "Qualitative or quantitative defects of desmin", "ORPHA:2547": "Microphthalmia-microtia-fetal akinesia syndrome", "ORPHA:209050": "Qualitative or quantitative defects of protein ZASP", "ORPHA:209047": "Qualitative or quantitative defects of filamin C", "ORPHA:209056": "Qualitative or quantitative defects of telethonin", "ORPHA:209053": "Qualitative or quantitative defects of titin", "ORPHA:209182": "Qualitative or quantitative defects of nebulin", "ORPHA:1778": "Facial dysmorphism-shawl scrotum-joint laxity syndrome", "ORPHA:209059": "Qualitative or quantitative defects of alpha-actin", "ORPHA:3074": "Intellectual disability-short stature-hypertelorism syndrome", "ORPHA:2649": "Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome", "ORPHA:209016": "Hematological disease associated with an acquired peripheral neuropathy", "ORPHA:1258": "OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome", "ORPHA:209013": "Acquired amyloid peripheral neuropathy", "ORPHA:209024": "Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase", "ORPHA:2161": "OBSOLETE: Holoacardius amorphus", "ORPHA:1759": "Thoraco-abdominal enteric duplication", "ORPHA:209019": "Solid tumor associated with an acquired peripheral neuropathy", "ORPHA:209030": "Qualitative or quantitative defects of protein O-mannosyltransferase 1", "ORPHA:209027": "Qualitative or quantitative defects of protein glycosyltransferase-like", "ORPHA:209038": "Qualitative or quantitative defects of myofibrillar proteins", "ORPHA:209033": "Qualitative or quantitative defects of protein O-mannosyltransferase 2", "ORPHA:489": "NON RARE IN EUROPE: Thyroglossal duct cyst", "ORPHA:1167": "OBSOLETE: Facial asymmetry-temporal seizures syndrome", "ORPHA:210110": "Intermediate osteopetrosis", "ORPHA:3405": "Umbilical cord ulceration-intestinal atresia syndrome", "ORPHA:210115": "Sterile multifocal osteomyelitis with periostitis and pustulosis", "ORPHA:1884": "Ectopia lentis-chorioretinal dystrophy-myopia syndrome", "ORPHA:209981": "IRIDA syndrome", "ORPHA:209989": "Non-papillary transitional cell carcinoma of the bladder", "ORPHA:1459": "Celiac disease-epilepsy-cerebral calcification syndrome", "ORPHA:3360": "OBSOLETE: Trichodermal syndrome-intellectual disability syndrome", "ORPHA:210133": "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome", "ORPHA:210136": "Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome", "ORPHA:2582": "Myalgia-eosinophilia syndrome associated with tryptophan", "ORPHA:210122": "Congenital alveolar capillary dysplasia", "ORPHA:210128": "Urocanic aciduria", "ORPHA:2254": "Pontocerebellar hypoplasia type 1", "ORPHA:209959": "Phacoanaphylactic uveitis", "ORPHA:209964": "Solitary rectal ulcer syndrome", "ORPHA:209951": "Autosomal spastic paraplegia type 18", "ORPHA:209956": "Idiopathic uveal effusion syndrome", "ORPHA:209973": "Benign nocturnal alternating hemiplegia of childhood", "ORPHA:209978": "Alternating hemiplegia", "ORPHA:209967": "Episodic ataxia type 6", "ORPHA:209970": "Episodic ataxia type 7", "ORPHA:2795": "Fowler urethral sphincter dysfunction syndrome", "ORPHA:209908": "Isolated childhood apraxia of speech", "ORPHA:2033": "OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome", "ORPHA:209905": "Brain-lung-thyroid syndrome", "ORPHA:2458": "OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome", "ORPHA:209902": "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency", "ORPHA:209893": "NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency", "ORPHA:2666": "Adult familial nephronophthisis-spastic quadriparesia syndrome", "ORPHA:209943": "IRVAN syndrome", "ORPHA:209932": "Cone dystrophy with supernormal rod response", "ORPHA:2125": "Sacral hemangiomas-multiple congenital abnormalities syndrome", "ORPHA:209919": "Idiopathic copper-associated cirrhosis", "ORPHA:1434": "OBSOLETE: Choroideremia-hypopituitarism syndrome", "ORPHA:209916": "Extraskeletal myxoid chondrosarcoma", "ORPHA:2519": "Microcephaly-seizures-intellectual disability-heart disease syndrome", "ORPHA:1492": "OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome", "ORPHA:209370": "Severe neonatal-onset encephalopathy with microcephaly", "ORPHA:209886": "OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1", "ORPHA:209867": "Autosomal dominant rhegmatogenous retinal detachment", "ORPHA:210566": "Myoclonic dystonia 15", "ORPHA:210571": "Dystonia 16", "ORPHA:3286": "Catecholaminergic polymorphic ventricular tachycardia", "ORPHA:210272": "Mal de débarquement", "ORPHA:210548": "Macrocephaly-intellectual disability-autism syndrome", "ORPHA:210159": "Adult hepatocellular carcinoma", "ORPHA:3283": "His bundle tachycardia", "ORPHA:210163": "Congenital lethal myopathy, Compton-North type", "ORPHA:3240": "Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome", "ORPHA:210141": "Inherited congenital spastic tetraplegia", "ORPHA:210144": "Lethal polymalformative syndrome, Boissel type", "ORPHA:1546": "Cryptococcosis", "ORPHA:67": "Amoebiasis due to Entamoeba histolytica", "ORPHA:210592": "OBSOLETE: Giant infantile hemangioma", "ORPHA:210584": "Spindle cell hemangioma", "ORPHA:2023": "Undifferentiated pleomorphic sarcoma", "ORPHA:210589": "Rare infantile hemangioma", "ORPHA:416": "Primary hyperoxaluria", "ORPHA:210576": "Congenital temporomandibular joint ankylosis", "ORPHA:210581": "Temporomandibular joint anomaly", "ORPHA:599": "Distal myopathy", "ORPHA:3392": "Tularemia", "ORPHA:211240": "Genetic vascular anomaly", "ORPHA:1063": "Tufted angioma", "ORPHA:211237": "Rare vascular tumor", "ORPHA:2737": "Onchocerciasis", "ORPHA:211067": "Episodic ataxia type 5", "ORPHA:3343": "Toxocariasis", "ORPHA:211062": "Hereditary episodic ataxia", "ORPHA:211053": "Specific language disorder", "ORPHA:2034": "Filariasis", "ORPHA:211047": "Specific learning disability", "ORPHA:2583": "Mycetoma", "ORPHA:1685": "Distomatosis", "ORPHA:211037": "Autosomal dominant proximal spinal muscular atrophy", "ORPHA:211017": "Spinocerebellar ataxia type 30", "ORPHA:1902": "Ehrlichiosis", "ORPHA:656": "Hereditary steroid-resistant nephrotic syndrome", "ORPHA:211277": "Complex vascular malformation with associated anomalies", "ORPHA:211266": "Rare arteriovenous malformation", "ORPHA:655": "Nephronophthisis", "ORPHA:211255": "Rare lymphatic system anomaly", "ORPHA:211252": "Rare venous malformation", "ORPHA:2415": "Rare lymphatic malformation", "ORPHA:211247": "Rare capillary malformation", "ORPHA:2122": "Kaposiform hemangioendothelioma", "ORPHA:211243": "Simple vascular malformation", "ORPHA:2591": "Infantile myofibromatosis", "ORPHA:35": "Propionic acidemia", "ORPHA:407": "Glycine encephalopathy", "ORPHA:2968": "Leukocyte adhesion deficiency", "ORPHA:663": "Mitochondrial DNA-related progressive external ophthalmoplegia", "ORPHA:137": "Congenital disorder of glycosylation", "ORPHA:220": "Denys-Drash syndrome", "ORPHA:5": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "ORPHA:85": "Congenital dyserythropoietic anemia", "ORPHA:25": "Glutaryl-CoA dehydrogenase deficiency", "ORPHA:177": "Rhizomelic chondrodysplasia punctata", "ORPHA:1246": "Brachydactyly-nystagmus-cerebellar ataxia syndrome", "ORPHA:618": "Familial melanoma", "ORPHA:359": "Pediatric-onset glaucoma of genetic origin", "ORPHA:309": "Familial partial epilepsy", "ORPHA:213500": "Ovarian cancer", "ORPHA:2364": "Glycogen storage disease due to lactate dehydrogenase deficiency", "ORPHA:711": "Glycogen storage disease due to phosphoglucomutase deficiency", "ORPHA:818": "Smith-Lemli-Opitz syndrome", "ORPHA:213512": "Malignant mixed Müllerian tumor of the ovary", "ORPHA:213504": "Adenocarcinoma of ovary", "ORPHA:175": "Cartilage-hair hypoplasia", "ORPHA:209": "Cutis laxa", "ORPHA:42": "Medium chain acyl-CoA dehydrogenase deficiency", "ORPHA:213564": "Rare uterine cancer", "ORPHA:213557": "Salivary gland type cancer of the breast", "ORPHA:213574": "OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri", "ORPHA:1939": "OBSOLETE: Envenomization by Bothrops lanceolatus", "ORPHA:213569": "Rare cancer of corpus uteri", "ORPHA:213524": "Hereditary site-specific ovarian cancer syndrome", "ORPHA:213517": "OBSOLETE: Familial ovarian cancer", "ORPHA:2066": "Gamma-aminobutyric acid transaminase deficiency", "ORPHA:300": "Bifunctional enzyme deficiency", "ORPHA:213531": "Metaplastic carcinoma of the breast", "ORPHA:213528": "Rare adenocarcinoma of the breast", "ORPHA:3188": "Congenital pulmonary veins atresia or stenosis", "ORPHA:213605": "Carcinofibroma of the corpus uteri", "ORPHA:213610": "Carcinosarcoma of the corpus uteri", "ORPHA:3161": "Congenital pulmonary sequestration", "ORPHA:213589": "Malignant mixed epithelial and mesenchymal tumor of corpus uteri", "ORPHA:213600": "Adenosarcoma of the corpus uteri", "ORPHA:860": "Congenitally uncorrected transposition of the great arteries", "ORPHA:213625": "Leiomyosarcoma of the corpus uteri", "ORPHA:185": "Scimitar syndrome", "ORPHA:213630": "Primitive neuroectodermal tumor of the corpus uteri", "ORPHA:3190": "Subpulmonary stenosis", "ORPHA:213615": "Rhabdomyosarcoma of the corpus uteri", "ORPHA:213620": "Sarcoma of the corpus uteri", "ORPHA:3189": "Congenital pulmonary valvar stenosis", "ORPHA:213721": "Undifferentiated carcinoma of the corpus uteri", "ORPHA:1464": "Univentricular heart", "ORPHA:213726": "Serous carcinoma of the corpus uteri", "ORPHA:3400": "Aorto-ventricular tunnel", "ORPHA:213711": "Endometrial stromal sarcoma", "ORPHA:213716": "Squamous cell carcinoma of the corpus uteri", "ORPHA:213741": "OBSOLETE: Adenoid cystic carcinoma of the corpus uteri", "ORPHA:213746": "Transitional cell carcinoma of the corpus uteri", "ORPHA:1572": "Common variable immunodeficiency", "ORPHA:213731": "High-grade neuroendocrine carcinoma of the corpus uteri", "ORPHA:3261": "Autoimmune lymphoproliferative syndrome", "ORPHA:213736": "Low-grade neuroendocrine tumor of the corpus uteri", "ORPHA:2849": "Perlman syndrome", "ORPHA:213772": "Adenocarcinoma of the cervix uteri", "ORPHA:213767": "Squamous cell carcinoma of the cervix uteri", "ORPHA:213761": "Rare cancer of cervix uteri", "ORPHA:213751": "Malignant germ cell tumor of the corpus uteri", "ORPHA:213792": "Adenosarcoma of the cervix uteri", "ORPHA:213787": "Carcinosarcoma of the cervix uteri", "ORPHA:213782": "Malignant mixed epithelial and mesenchymal tumor of cervix uteri", "ORPHA:213777": "High-grade neuroendocrine carcinoma of the cervix uteri", "ORPHA:213812": "Primitive neuroectodermal tumor of the cervix uteri", "ORPHA:747": "Autoimmune pulmonary alveolar proteinosis", "ORPHA:213807": "Leiomyosarcoma of the cervix uteri", "ORPHA:213802": "Rhabdomyosarcoma of the cervix uteri", "ORPHA:2953": "Musculocontractural Ehlers-Danlos syndrome", "ORPHA:213797": "Sarcoma of cervix uteri", "ORPHA:213833": "Glassy cell carcinoma of the cervix uteri", "ORPHA:3160": "OBSOLETE: Vascular disruption sequence", "ORPHA:213828": "Adenoid basal carcinoma of the cervix uteri", "ORPHA:213823": "Adenoid cystic carcinoma of the cervix uteri", "ORPHA:3082": "Intellectual disability-polydactyly-uncombable hair syndrome", "ORPHA:213817": "OBSOLETE: Papillary carcinoma of the cervix uteri", "ORPHA:782": "Axenfeld-Rieger syndrome", "ORPHA:3269": "Isolated radio-ulnar synostosis", "ORPHA:213837": "Malignant germ cell tumor of the cervix uteri", "ORPHA:3259": "Syndactyly-polydactyly-ear lobe syndrome", "ORPHA:216445": "Prelingual non-syndromic genetic deafness", "ORPHA:3309": "Tetrasomy 5p syndrome", "ORPHA:216452": "Postlingual non-syndromic genetic deafness", "ORPHA:216675": "Transposition of the great arteries", "ORPHA:3379": "Distal duplication 17q syndrome", "ORPHA:216694": "Congenitally corrected transposition of the great arteries", "ORPHA:216718": "Isolated congenitally uncorrected transposition of the great arteries", "ORPHA:216729": "Congenitally uncorrected transposition of the great arteries with cardiac malformation", "ORPHA:3411": "Double uterus-hemivagina-renal agenesis syndrome", "ORPHA:882": "Tyrosinemia type 1", "ORPHA:216796": "Osteogenesis imperfecta type 1", "ORPHA:903": "Von Willebrand disease", "ORPHA:216804": "Osteogenesis imperfecta type 2", "ORPHA:216812": "Osteogenesis imperfecta type 3", "ORPHA:995": "X-linked fetal akinesia syndrome", "ORPHA:216820": "Osteogenesis imperfecta type 4", "ORPHA:216828": "Osteogenesis imperfecta type 5", "ORPHA:3474": "CHIME syndrome", "ORPHA:216866": "Classic pantothenate kinase-associated neurodegeneration", "ORPHA:216873": "Atypical pantothenate kinase-associated neurodegeneration", "ORPHA:1260": "OBSOLETE: Sino-auricular heart block", "ORPHA:216972": "Niemann-Pick disease type C, severe perinatal form", "ORPHA:1441": "Ring chromosome 17 syndrome", "ORPHA:216978": "Niemann-Pick disease type C, late infantile neurologic onset", "ORPHA:361": "Familial glucocorticoid deficiency", "ORPHA:216975": "Niemann-Pick disease type C, severe early infantile neurologic onset", "ORPHA:216986": "Niemann-Pick disease type C, adult neurologic onset", "ORPHA:1787": "Acrofacial dysostosis, Palagonia type", "ORPHA:216981": "Niemann-Pick disease type C, juvenile neurologic onset", "ORPHA:1863": "NON RARE IN EUROPE: Trochlear dysplasia", "ORPHA:217008": "Bockenheimer syndrome", "ORPHA:216989": "Autosomal dominant dystrophic epidermolysis bullosa, Pasini type", "ORPHA:217017": "Zechi-Ceide syndrome", "ORPHA:217012": "Spinocerebellar ataxia type 31", "ORPHA:2088": "Fanconi-Bickel syndrome", "ORPHA:217026": "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type", "ORPHA:217023": "OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly", "ORPHA:217034": "Male infertility with normal virilization due to meiosis defect", "ORPHA:217031": "NON RARE IN EUROPE: Obesity due to MC3R deficiency", "ORPHA:217049": "OBSOLETE: Rare non-syndromic cataract", "ORPHA:217046": "OBSOLETE: Autosomal recessive childhood-onset cortical cataract", "ORPHA:217266": "BNAR syndrome", "ORPHA:179": "Birdshot chorioretinopathy", "ORPHA:217260": "Progressive multifocal leukoencephalopathy", "ORPHA:292": "Congenital enterovirus infection", "ORPHA:217253": "NMDA receptor encephalitis", "ORPHA:767": "Polyarteritis nodosa", "ORPHA:2584": "Classic mycosis fungoides", "ORPHA:217093": "Mucopolysaccharidosis type 2, attenuated form", "ORPHA:3162": "Sézary syndrome", "ORPHA:217085": "Mucopolysaccharidosis type 2, severe form", "ORPHA:217080": "Pulmonary fungal infections in patients deemed at risk", "ORPHA:217074": "Rare carcinoma of pancreas", "ORPHA:2330": "Kasabach-Merritt phenomenon", "ORPHA:217071": "Renal cell carcinoma", "ORPHA:217067": "Pouchitis", "ORPHA:2700": "Noma", "ORPHA:217064": "5-fluorouracil poisoning", "ORPHA:1451": "CINCA syndrome", "ORPHA:217059": "Isolated nail clubbing", "ORPHA:217055": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A", "ORPHA:556": "Malakoplakia", "ORPHA:2778": "OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis", "ORPHA:217052": "OBSOLETE: Infantile non-syndromic cataract", "ORPHA:217335": "RIN2 syndrome", "ORPHA:2745": "Opitz GBBB syndrome", "ORPHA:217340": "17q21.31 microduplication syndrome", "ORPHA:3260": "Idiopathic hypereosinophilic syndrome", "ORPHA:217315": "Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome", "ORPHA:217330": "REN-related autosomal dominant tubulointerstitial kidney disease", "ORPHA:1648": "NON RARE IN EUROPE: Dementia with Lewy body", "ORPHA:2086": "Optic pathway glioma", "ORPHA:2566": "Chronic Epstein-Barr virus infection syndrome", "ORPHA:3385": "African trypanosomiasis", "ORPHA:1560": "Cysticercosis", "ORPHA:566": "Congenital microcoria", "ORPHA:344": "OBSOLETE: Arbovirus fever", "ORPHA:341": "Viral hemorrhagic fever", "ORPHA:340": "Hemorrhagic fever-renal syndrome", "ORPHA:2552": "Microsporidiosis", "ORPHA:1171": "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome", "ORPHA:1463": "Triatrial heart", "ORPHA:217560": "Neuroendocrine cell hyperplasia of infancy", "ORPHA:217557": "Pulmonary interstitial glycogenosis", "ORPHA:1686": "Cardiac diverticulum", "ORPHA:217566": "Chronic respiratory distress with surfactant metabolism deficiency", "ORPHA:217563": "Neonatal acute respiratory distress syndrome", "ORPHA:1864": "OBSOLETE: Congenital valvular dysplasia", "ORPHA:217410": "OBSOLETE: Circumscribed lymphatic malformation", "ORPHA:217407": "Hereditary hypotrichosis with recurrent skin vesicles", "ORPHA:1456": "Middle aortic syndrome", "ORPHA:217467": "Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency", "ORPHA:217454": "Rare hereditary thrombophilia", "ORPHA:1457": "Aorta coarctation", "ORPHA:217390": "Combined immunodeficiency due to DOCK8 deficiency", "ORPHA:1132": "Aortic arch defects", "ORPHA:217385": "17p13.3 microduplication syndrome", "ORPHA:1138": "Abnormal origin of the pulmonary artery", "ORPHA:1207": "Pulmonary atresia with ventricular septal defect", "ORPHA:217399": "Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation", "ORPHA:217396": "Progressive polyneuropathy with bilateral striatal necrosis", "ORPHA:982": "Pulmonary valve agenesis", "ORPHA:217371": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "ORPHA:217346": "19q13.11 microdeletion syndrome", "ORPHA:980": "Absence of the pulmonary artery", "ORPHA:217382": "Neurodegenerative syndrome due to cerebral folate transport deficiency", "ORPHA:1054": "Aneurysm of sinus of Valsalva", "ORPHA:1081": "Coronary artery congenital malformation", "ORPHA:217377": "Microduplication Xp11.22p11.23 syndrome", "ORPHA:3091": "Congenital systemic veins anomaly", "ORPHA:217613": "Mitochondrial disease with dilated cardiomyopathy", "ORPHA:217616": "Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy", "ORPHA:217619": "Syndrome associated with dilated cardiomyopathy", "ORPHA:3093": "Congenital aortic valve stenosis", "ORPHA:217622": "Sensorineural deafness with dilated cardiomyopathy", "ORPHA:3092": "Fixed subaortic stenosis", "ORPHA:217601": "OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training", "ORPHA:217604": "Dilated cardiomyopathy", "ORPHA:2299": "Aortic arch interruption", "ORPHA:3427": "Double outlet left ventricle", "ORPHA:217607": "Familial dilated cardiomyopathy", "ORPHA:217610": "Neuromuscular disease with dilated cardiomyopathy", "ORPHA:3426": "Double outlet right ventricle", "ORPHA:439": "Isolated right ventricular hypoplasia", "ORPHA:217587": "Mitochondrial disease with hypertrophic cardiomyopathy", "ORPHA:217591": "Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy", "ORPHA:422": "Idiopathic/heritable pulmonary arterial hypertension", "ORPHA:217595": "Syndrome associated with hypertrophic cardiomyopathy", "ORPHA:2447": "Congenital mitral malformation", "ORPHA:217598": "Non-familial hypertrophic cardiomyopathy", "ORPHA:2038": "Pulmonary arteriovenous malformation", "ORPHA:217569": "Rare hypertrophic cardiomyopathy", "ORPHA:2037": "Congenital aortopulmonary window", "ORPHA:217572": "Glycogen storage disease with hypertrophic cardiomyopathy", "ORPHA:2041": "Coronary arterial fistula", "ORPHA:217581": "Lysosomal disease with hypertrophic cardiomyopathy", "ORPHA:2039": "Congenital systemic arteriovenous fistula", "ORPHA:282": "Frontotemporal dementia", "ORPHA:217720": "Non-familial restrictive cardiomyopathy", "ORPHA:331": "Congenital factor XIII deficiency", "ORPHA:159": "Carnitine-acylcarnitine translocase deficiency", "ORPHA:542": "Primary cutaneous lymphoma", "ORPHA:707": "Plague", "ORPHA:217638": "Lysosomal disease with restrictive cardiomyopathy", "ORPHA:217635": "Familial restrictive cardiomyopathy", "ORPHA:335": "Congenital fibrinogen deficiency", "ORPHA:217632": "Restrictive cardiomyopathy", "ORPHA:217629": "Non-familial dilated cardiomyopathy", "ORPHA:217678": "Unclassified cardiomyopathy", "ORPHA:79": "Congenital alpha2-antiplasmin deficiency", "ORPHA:217656": "Inherited isolated arrhythmogenic cardiomyopathy", "ORPHA:1070": "Anisakiasis", "ORPHA:1467": "Cogan syndrome", "ORPHA:2157": "Histidinemia", "ORPHA:220402": "Limited cutaneous systemic sclerosis", "ORPHA:3124": "Saccharopinuria", "ORPHA:220407": "Limited systemic sclerosis", "ORPHA:220386": "Semilobar holoprosencephaly", "ORPHA:2203": "Hyperlysinemia", "ORPHA:220393": "Diffuse cutaneous systemic sclerosis", "ORPHA:332": "Congenital intrinsic factor deficiency", "ORPHA:220448": "Macrothrombocytopenia with mitral valve insufficiency", "ORPHA:2967": "Transcobalamin I deficiency", "ORPHA:220452": "Isolated hereditary giant platelet disorder", "ORPHA:220436": "Quebec platelet disorder", "ORPHA:2168": "Homocarnosinosis", "ORPHA:2195": "Dicarboxylic aminoaciduria", "ORPHA:220443": "Bleeding diathesis due to thromboxane synthesis deficiency", "ORPHA:218436": "Rare cardiac rhythm disease", "ORPHA:218439": "Non-genetic cardiac rhythm disease", "ORPHA:218432": "OBSOLETE: Familial restrictive cardiomyopathy type 3", "ORPHA:2170": "Methylcobalamin deficiency type cblG", "ORPHA:220295": "Xeroderma pigmentosum-Cockayne syndrome complex", "ORPHA:414": "Gyrate atrophy of choroid and retina", "ORPHA:622": "Homocystinuria without methylmalonic aciduria", "ORPHA:927": "Hyperammonemia due to N-acetylglutamate synthase deficiency", "ORPHA:3402": "Transient tyrosinemia of the newborn", "ORPHA:34": "Pipecolic acidemia", "ORPHA:2880": "Phosphoenolpyruvate carboxykinase deficiency", "ORPHA:941": "D-glyceric aciduria", "ORPHA:220465": "Laron syndrome with immunodeficiency", "ORPHA:220460": "Attenuated familial adenomatous polyposis", "ORPHA:220489": "Rare hereditary hemochromatosis", "ORPHA:19": "2-hydroxyglutaric aciduria", "ORPHA:2843": "Pentosuria", "ORPHA:220497": "Joubert syndrome with renal defect", "ORPHA:212": "Cystathioninuria", "ORPHA:220493": "Joubert syndrome with ocular defect", "ORPHA:470": "Lysinuric protein intolerance", "ORPHA:1032": "OBSOLETE: Hyperdibasic aminoaciduria type 1", "ORPHA:221074": "Marchiafava-Bignami disease", "ORPHA:221078": "Combined hyperactive dysfunction syndrome of the cranial nerves", "ORPHA:145": "Hereditary breast and/or ovarian cancer syndrome", "ORPHA:2965": "Prolactinoma", "ORPHA:221083": "Hemifacial spasm", "ORPHA:221091": "Trigeminal neuralgia", "ORPHA:538": "Lymphangioleiomyomatosis", "ORPHA:221098": "Glossopharyngeal neuralgia", "ORPHA:2942": "Postpoliomyelitis syndrome", "ORPHA:221106": "OBSOLETE: Isolated facial myokymia", "ORPHA:1578": "Pterin-4 alpha-carbinolamine dehydratase deficiency", "ORPHA:221109": "Cranial neuralgia", "ORPHA:221114": "Acquired peripheral movement disorder", "ORPHA:3208": "Isolated succinate-CoQ reductase deficiency", "ORPHA:221008": "Rothmund-Thomson syndrome type 1", "ORPHA:24": "Fumaric aciduria", "ORPHA:221016": "Rothmund-Thomson syndrome type 2", "ORPHA:1561": "Fatal infantile cytochrome C oxidase deficiency", "ORPHA:221039": "Hereditary sclerosing poikiloderma, Weary type", "ORPHA:1460": "Isolated complex III deficiency", "ORPHA:851": "Paris-Trousseau thrombocytopenia", "ORPHA:221043": "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome", "ORPHA:221046": "Poikiloderma with neutropenia", "ORPHA:1044": "OBSOLETE: Anemia due to adenosine triphosphatase deficiency", "ORPHA:745": "Severe hereditary thrombophilia due to congenital protein C deficiency", "ORPHA:221054": "Acrocephalopolydactyly", "ORPHA:221061": "Familial cerebral cavernous malformation", "ORPHA:849": "Glanzmann thrombasthenia", "ORPHA:225154": "Familial infantile bilateral striatal necrosis", "ORPHA:225123": "TFR2-related hemochromatosis", "ORPHA:225147": "Sporadic infantile bilateral striatal necrosis", "ORPHA:222628": "Hereditary poikiloderma", "ORPHA:223713": "Mitochondrial oxidative phosphorylation disorder", "ORPHA:223735": "Lymphoma", "ORPHA:223727": "Bone sarcoma", "ORPHA:221117": "Gerstmann syndrome", "ORPHA:221120": "Pseudoaminopterin syndrome", "ORPHA:221126": "Fowler vasculopathy", "ORPHA:221139": "Combined immunodeficiency with facio-oculo-skeletal anomalies", "ORPHA:221142": "Confetti-like macular atrophy", "ORPHA:221145": "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies", "ORPHA:221150": "OBSOLETE: Pitt-Hopkins-like syndrome", "ORPHA:228003": "Severe combined immunodeficiency due to CORO1A deficiency", "ORPHA:3398": "Thymic epithelial neoplasm", "ORPHA:228000": "Idiopathic CD4 lymphocytopenia", "ORPHA:547": "Non-Hodgkin lymphoma", "ORPHA:227990": "Autoimmune polyendocrinopathy type 4", "ORPHA:842": "Testicular seminomatous germ cell tumor", "ORPHA:227982": "Autoimmune polyendocrinopathy type 3", "ORPHA:227976": "Autosomal recessive optic atrophy, OPA7 type", "ORPHA:876": "Yolk sac tumor", "ORPHA:227972": "Toxic oil syndrome", "ORPHA:883": "Extragonadal teratoma", "ORPHA:227796": "Fundus albipunctatus", "ORPHA:228123": "Coccidioidomycosis", "ORPHA:228119": "Fusariosis", "ORPHA:228116": "Hughes-Stovin syndrome", "ORPHA:228113": "Anal fistula", "ORPHA:3399": "Germ cell tumor", "ORPHA:389": "Langerhans cell histiocytosis", "ORPHA:228012": "Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome", "ORPHA:616": "Medulloblastoma", "ORPHA:301": "Ependymal tumor", "ORPHA:541": "Primary cutaneous CD30+ T-cell lymphoproliferative disease", "ORPHA:543": "Burkitt lymphoma", "ORPHA:319": "Skeletal Ewing sarcoma", "ORPHA:227535": "Hereditary breast cancer", "ORPHA:668": "Osteosarcoma", "ORPHA:227786": "OBSOLETE: Familial flecked retinopathy", "ORPHA:227510": "Multiple system atrophy, cerebellar type", "ORPHA:94": "Astrocytoma", "ORPHA:360": "Glioblastoma", "ORPHA:226292": "Permanent congenital hypothyroidism", "ORPHA:513": "Acute lymphoblastic leukemia", "ORPHA:1957": "Esthesioneuroblastoma", "ORPHA:226298": "Central congenital hypothyroidism", "ORPHA:2030": "Fibrosarcoma", "ORPHA:2126": "Solitary fibrous tumor", "ORPHA:226295": "Primary congenital hypothyroidism", "ORPHA:758": "Pseudoxanthoma elasticum", "ORPHA:419": "Hyperprolinemia type 1", "ORPHA:1501": "Adrenocortical carcinoma", "ORPHA:226316": "Genetic transient congenital hypothyroidism", "ORPHA:2677": "OBSOLETE: Neuroepithelioma", "ORPHA:226307": "Hypothyroidism due to deficient transcription factors involved in pituitary development or function", "ORPHA:3148": "Malignant peripheral nerve sheath tumor", "ORPHA:3273": "Synovial sarcoma", "ORPHA:226313": "Congenital hypothyroidism due to maternal intake of antithyroid drugs", "ORPHA:226310": "OBSOLETE: Peripheral hypothyroidism", "ORPHA:391": "Classic Hodgkin lymphoma", "ORPHA:2260": "Oligomeganephronia", "ORPHA:225689": "Amino acid or protein metabolism disease with epilepsy", "ORPHA:225692": "Metal transport or utilization disorder with epilepsy", "ORPHA:503": "Larsen syndrome", "ORPHA:1652": "Dent disease", "ORPHA:225696": "Energy metabolism disorder with epilepsy", "ORPHA:225700": "Mitochondrial disease with epilepsy", "ORPHA:2542": "Isolated microphthalmia-anophthalmia-coloboma", "ORPHA:3280": "Syringomyelia", "ORPHA:2478": "Megalencephalic leukoencephalopathy with subcortical cysts", "ORPHA:225681": "Lysosomal disease with epilepsy", "ORPHA:225686": "Peroxisomal disease with epilepsy", "ORPHA:225968": "OBSOLETE: Inherited predisposition to essential thrombocythemia", "ORPHA:3337": "Primary Fanconi renotubular syndrome", "ORPHA:223": "Arginine vasopressin resistance", "ORPHA:225703": "Mitochondrial disease with peripheral neuropathy", "ORPHA:225707": "Metabolic neurotransmission anomaly with epilepsy", "ORPHA:225710": "Sterol metabolism disorder with epilepsy", "ORPHA:757": "Pseudohypoaldosteronism type 2", "ORPHA:225713": "Other metabolic disease with epilepsy", "ORPHA:228418": "OBSOLETE: Microcephaly-seizures-developmental delay syndrome", "ORPHA:228423": "GATA2 deficiency spectrum", "ORPHA:521": "Chronic myeloid leukemia", "ORPHA:228415": "5q35 microduplication syndrome", "ORPHA:132": "Hereditary butyrylcholinesterase deficiency", "ORPHA:1172": "Autosomal recessive cerebellar ataxia", "ORPHA:229717": "Isolated agammaglobulinemia", "ORPHA:229720": "Syndromic agammaglobulinemia", "ORPHA:228426": "Syndromic multisystem autoimmune disease due to Itch deficiency", "ORPHA:2345": "Isolated Klippel-Feil syndrome", "ORPHA:1333": "Familial pancreatic carcinoma", "ORPHA:228429": "Generalized congenital lipodystrophy with myopathy", "ORPHA:228396": "Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome", "ORPHA:2794": "NON RARE IN EUROPE: Familial otosclerosis", "ORPHA:228387": "Spondylo-megaepiphyseal-metaphyseal dysplasia", "ORPHA:228390": "Frontonasal dysplasia-alopecia-genital anomalies syndrome", "ORPHA:228407": "Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome", "ORPHA:228410": "Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome", "ORPHA:228399": "8q12 microduplication syndrome", "ORPHA:2781": "Osteopetrosis and related disorders", "ORPHA:228402": "2q23.1 microdeletion syndrome", "ORPHA:228366": "CLN7 disease", "ORPHA:228363": "CLN6 disease", "ORPHA:228360": "CLN5 disease", "ORPHA:228357": "OBSOLETE: CLN9 disease", "ORPHA:228384": "5q14.3 microdeletion syndrome", "ORPHA:228379": "Virus-associated trichodysplasia spinulosa", "ORPHA:228374": "Charcot-Marie-Tooth disease type 2B5", "ORPHA:228371": "Foodborne botulism", "ORPHA:228340": "OBSOLETE: CLN4A disease", "ORPHA:228337": "CLN10 disease", "ORPHA:228329": "CLN1 disease", "ORPHA:228318": "OBSOLETE: Idiopathic hypersomnia without long sleep time", "ORPHA:228354": "CLN8 disease", "ORPHA:228349": "CLN2 disease", "ORPHA:228346": "CLN3 disease", "ORPHA:228343": "CLN4 disease", "ORPHA:228290": "White fibrous papulosis of the neck", "ORPHA:228293": "Pseudoxanthoma elasticum-like papillary dermal elastolysis", "ORPHA:228299": "Mid-dermal elastolysis", "ORPHA:228302": "Carnitine palmitoyl transferase II deficiency, myopathic form", "ORPHA:228305": "Carnitine palmitoyl transferase II deficiency, severe infantile form", "ORPHA:228308": "Carnitine palmitoyl transferase II deficiency, neonatal form", "ORPHA:228312": "Autoimmune hemolytic anemia, cold type", "ORPHA:228315": "OBSOLETE: Idiopathic hypersomnia with long sleep time", "ORPHA:228240": "Elastoderma", "ORPHA:135": "CACH syndrome", "ORPHA:228243": "Elastofibroma dorsi", "ORPHA:228247": "Acquired pseudoxanthoma elasticum", "ORPHA:228254": "Elastoma", "ORPHA:228264": "Papular elastorrhexis", "ORPHA:228272": "Primary anetoderma", "ORPHA:228277": "Familial anetoderma", "ORPHA:228285": "Acquired cutis laxa", "ORPHA:228190": "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome", "ORPHA:3203": "Overhydrated hereditary stomatocytosis", "ORPHA:3202": "Dehydrated hereditary stomatocytosis", "ORPHA:228218": "Acquired dermis elastic tissue disorder", "ORPHA:228215": "Genetic dermis elastic tissue disorder", "ORPHA:228224": "Acquired dermis elastic tissue disorder with increased elastic tissue", "ORPHA:228221": "Acquired dermis elastic tissue disorder with decreased elastic tissue", "ORPHA:1544": "Benign focal seizures of adolescence", "ORPHA:228236": "Linear focal elastosis", "ORPHA:228227": "Late-onset focal dermal elastosis", "ORPHA:228145": "Multiple sclerosis variant", "ORPHA:228140": "Idiopathic ventricular fibrillation, non Brugada type", "ORPHA:1018": "X-linked Alport syndrome-diffuse leiomyomatosis", "ORPHA:228165": "Baló concentric sclerosis", "ORPHA:306": "Self-limited infantile epilepsy", "ORPHA:228157": "Marburg acute multiple sclerosis", "ORPHA:328": "Congenital factor X deficiency", "ORPHA:228174": "Autosomal dominant Charcot-Marie-Tooth disease type 2N", "ORPHA:228169": "Autosomal dominant striatal neurodegeneration", "ORPHA:2132": "Hemoglobin C disease", "ORPHA:2133": "Hemoglobin E disease", "ORPHA:228184": "Heart-hand syndrome", "ORPHA:228179": "Autosomal dominant Charcot-Marie-Tooth disease type 2M", "ORPHA:288": "Hereditary elliptocytosis", "ORPHA:751": "NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency", "ORPHA:231531": "Hermansky-Pudlak syndrome due to BLOC-1 deficiency", "ORPHA:231537": "Hermansky-Pudlak syndrome type 8", "ORPHA:231512": "Hermansky-Pudlak syndrome due to BLOC-2 deficiency", "ORPHA:1320": "Idiopathic camptocormia", "ORPHA:256": "Early-onset generalized limb-onset dystonia", "ORPHA:231500": "Hermansky-Pudlak syndrome due to BLOC-3 deficiency", "ORPHA:441": "Pure autonomic failure", "ORPHA:231457": "Acute pandysautonomia", "ORPHA:231466": "Acute sensory ataxic neuropathy", "ORPHA:1576": "Infantile bilateral striatal necrosis", "ORPHA:231445": "Paraparetic variant of Guillain-Barré syndrome", "ORPHA:231450": "Acute pure sensory neuropathy", "ORPHA:2073": "Narcolepsy type 1", "ORPHA:231426": "Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome", "ORPHA:231416": "Regional variant of Guillain-Barré syndrome", "ORPHA:231419": "Functional variant of Guillain-Barré syndrome", "ORPHA:231401": "Alpha-thalassemia-myelodysplastic syndrome", "ORPHA:231413": "Variant of Guillain-Barré syndrome", "ORPHA:1866": "Focal, segmental or multifocal dystonia", "ORPHA:2611": "Linear verrucous nevus syndrome", "ORPHA:231393": "Beta-thalassemia-X-linked thrombocytopenia syndrome", "ORPHA:809": "Mixed connective tissue disease", "ORPHA:231386": "Beta-thalassemia with other manifestations", "ORPHA:231256": "Beta-thalassemia-trichothiodystrophy syndrome", "ORPHA:1309": "Medullary sponge kidney", "ORPHA:231249": "Hemoglobin E-beta-thalassemia syndrome", "ORPHA:231242": "Hemoglobin C-beta-thalassemia syndrome", "ORPHA:2197": "Idiopathic hypercalciuria", "ORPHA:231237": "Delta-beta-thalassemia", "ORPHA:231230": "Beta-thalassemia associated with another hemoglobin anomaly", "ORPHA:231226": "Dominant beta-thalassemia", "ORPHA:18": "Distal renal tubular acidosis", "ORPHA:231222": "Beta-thalassemia intermedia", "ORPHA:160": "Castleman disease", "ORPHA:231214": "Beta-thalassemia major", "ORPHA:231205": "OBSOLETE: Common variable immunodeficiency without known genetic defect", "ORPHA:2841": "Hailey-Hailey disease", "ORPHA:231183": "Usher syndrome type 3", "ORPHA:347": "Frasier syndrome", "ORPHA:231178": "Usher syndrome type 2", "ORPHA:1670": "Chronic diarrhea with villous atrophy", "ORPHA:231154": "Combined immunodeficiency due to partial RAG1 deficiency", "ORPHA:2596": "Myopathy and diabetes mellitus", "ORPHA:2966": "Properdin deficiency", "ORPHA:231160": "Familial cerebral saccular aneurysm", "ORPHA:231169": "Usher syndrome type 1", "ORPHA:231137": "Silver-Russell syndrome due to 7p11.2p13 microduplication", "ORPHA:231140": "Silver-Russell syndrome due to an imprinting defect of 11p15", "ORPHA:231144": "Silver-Russell syndrome due to 11p15 microduplication", "ORPHA:2194": "OBSOLETE: Anti-HLA hyperimmunization", "ORPHA:231147": "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11", "ORPHA:231120": "Beckwith-Wiedemann syndrome due to CDKN1C mutation", "ORPHA:231127": "Beckwith-Wiedemann syndrome due to 11p15 microdeletion", "ORPHA:231130": "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion", "ORPHA:231080": "High-grade dysplasia in patients with Barrett esophagus", "ORPHA:231108": "Rhabdoid tumor predisposition syndrome", "ORPHA:405": "Familial hypocalciuric hypercalcemia", "ORPHA:231111": "Drug-induced lupus erythematosus", "ORPHA:231117": "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15", "ORPHA:1223": "Balantidiasis", "ORPHA:231040": "Familial generalized lentiginosis", "ORPHA:3318": "Essential thrombocythemia", "ORPHA:230857": "Ehlers-Danlos/osteogenesis imperfecta syndrome", "ORPHA:230851": "Cardiac-valvular Ehlers-Danlos syndrome", "ORPHA:231031": "Erythema palmare hereditarium", "ORPHA:913": "Zollinger-Ellison syndrome", "ORPHA:231013": "Congenital trigeminal anesthesia", "ORPHA:230800": "Toxin-mediated infectious botulism", "ORPHA:230845": "Vascular-like classical Ehlers-Danlos syndrome", "ORPHA:82": "Hereditary thrombophilia due to congenital antithrombin deficiency", "ORPHA:230839": "Classical-like Ehlers-Danlos syndrome type 1", "ORPHA:2284": "OBSOLETE: Primary T cell immunodeficiency", "ORPHA:519": "Acute myeloid leukemia", "ORPHA:233655": "Rare genetic vascular disease", "ORPHA:235835": "OBSOLETE: Congenital vascular bone syndrome with limb overgrowth", "ORPHA:235832": "Congenital vascular bone syndrome", "ORPHA:235936": "Familial hyperaldosteronism", "ORPHA:235838": "OBSOLETE: Congenital vascular bone syndrome with limb shortening", "ORPHA:238305": "Infundibulo-neurohypophysitis", "ORPHA:238269": "AApoAII amyloidosis", "ORPHA:238446": "15q11q13 microduplication syndrome", "ORPHA:238329": "Severe X-linked mitochondrial encephalomyopathy", "ORPHA:231573": "Congenital erosive and vesicular dermatosis", "ORPHA:231580": "Primary unilateral adrenal hyperplasia", "ORPHA:231556": "Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome", "ORPHA:231568": "Autosomal dominant generalized dystrophic epidermolysis bullosa", "ORPHA:231632": "Ectopic aldosterone-producing tumor", "ORPHA:231637": "Rare surgically correctable form of primary aldosteronism", "ORPHA:231625": "Adrenocortical carcinoma with pure aldosterone hypersecretion", "ORPHA:1900": "Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency", "ORPHA:231671": "Isolated growth hormone deficiency type IB", "ORPHA:286": "Vascular Ehlers-Danlos syndrome", "ORPHA:231679": "Isolated growth hormone deficiency type II", "ORPHA:231641": "Rare non surgically correctable form of primary aldosteronism", "ORPHA:285": "Hypermobile Ehlers-Danlos syndrome", "ORPHA:231662": "Isolated growth hormone deficiency type IA", "ORPHA:231736": "Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome", "ORPHA:231742": "Epibulbar lipodermoid-preauricular appendage-polythelia syndrome", "ORPHA:257": "Epidermolysis bullosa simplex with muscular dystrophy", "ORPHA:1901": "Dermatosparaxis Ehlers-Danlos syndrome", "ORPHA:231692": "Isolated growth hormone deficiency type III", "ORPHA:231720": "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome", "ORPHA:1899": "Arthrochalasia Ehlers-Danlos syndrome", "ORPHA:839": "Congenital nephrotic syndrome, Finnish type", "ORPHA:232035": "Infectious embryofetopathy", "ORPHA:531": "Miller-Dieker syndrome", "ORPHA:3394": "Soft tissue sarcoma", "ORPHA:1084": "Isolated lissencephaly type 1 without known genetic defects", "ORPHA:232288": "Syndrome with alpha-thalassemia as a major feature", "ORPHA:1083": "Microlissencephaly", "ORPHA:452": "X-linked lissencephaly with abnormal genitalia", "ORPHA:238750": "4q21 microdeletion syndrome", "ORPHA:238755": "OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H", "ORPHA:238763": "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea", "ORPHA:238696": "Transient congenital hypothyroidism due to maternal factor", "ORPHA:238699": "Transient congenital hypothyroidism due to neonatal factor", "ORPHA:238722": "Familial congenital mirror movements", "ORPHA:238744": "Mammary-digital-nail syndrome", "ORPHA:238766": "Ptosis-syndactyly-learning difficulties syndrome", "ORPHA:238769": "1q44 microdeletion syndrome", "ORPHA:238510": "OBSOLETE: Lymphoproliferative syndrome", "ORPHA:238517": "Hypotonia-cystinuria type 1 syndrome", "ORPHA:238505": "Combined immunodeficiency due to CD27 deficiency", "ORPHA:238468": "Hypohidrotic ectodermal dysplasia", "ORPHA:238475": "Familial hypercholanemia", "ORPHA:238455": "Infantile dystonia-parkinsonism", "ORPHA:238459": "SLC35A1-CDG", "ORPHA:238578": "Familial clubfoot due to 17q23.1q23.2 microduplication", "ORPHA:238583": "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency", "ORPHA:238557": "Chuvash erythrocytosis", "ORPHA:238569": "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome", "ORPHA:238547": "Acquired secondary polycythemia", "ORPHA:238523": "Atypical hypotonia-cystinuria syndrome", "ORPHA:238536": "Congenital secondary polycythemia", "ORPHA:238637": "Megacystis-megaureter syndrome", "ORPHA:238624": "Idiopathic intracranial hypertension", "ORPHA:238621": "Ileal pouch anal anastomosis related faecal incontinence", "ORPHA:238616": "NON RARE IN EUROPE: Alzheimer disease", "ORPHA:238613": "Beckwith-Wiedemann syndrome due to NSD1 mutation", "ORPHA:238606": "Primary orthostatic tremor", "ORPHA:238593": "IgG4-related mesenteritis", "ORPHA:238691": "OBSOLETE: Congenital liver hemangioma", "ORPHA:238688": "Neonatal iodine exposure", "ORPHA:238670": "Isolated thyrotropin-releasing hormone deficiency", "ORPHA:238666": "Isolated congenital hypogonadotropic hypogonadism", "ORPHA:238654": "Congenital primary megaureter, nonrefluxing and unobstructed form", "ORPHA:238650": "Congenital primary megaureter, refluxing form", "ORPHA:238646": "Congenital primary megaureter, obstructed form", "ORPHA:238642": "Primary megaureter, adult-onset form", "ORPHA:240371": "Syndromic obesity", "ORPHA:240266": "OBSOLETE: Systemic non-Langerhans cell histiocytosis", "ORPHA:240071": "Classic progressive supranuclear palsy syndrome", "ORPHA:240112": "Progressive supranuclear palsy-progressive non-fluent aphasia syndrome", "ORPHA:240103": "Progressive supranuclear palsy-corticobasal syndrome", "ORPHA:240094": "Progressive supranuclear palsy-pure akinesia with gait freezing syndrome", "ORPHA:240085": "Progressive supranuclear palsy-predominant parkinsonism syndrome", "ORPHA:240760": "Nijmegen breakage syndrome-like disorder", "ORPHA:331226": "Susceptibility to infection due to TYK2 deficiency", "ORPHA:331223": "Hyper-IgE syndrome", "ORPHA:331235": "Selective IgM deficiency", "ORPHA:331232": "Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells", "ORPHA:331244": "Other immunodeficiency syndrome with predominantly antibody defects", "ORPHA:331240": "Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells", "ORPHA:331249": "Primary hemophagocytic lymphohistiocytosis with hypopigmentation", "ORPHA:331176": "Severe congenital neutropenia due to G6PC3 deficiency", "ORPHA:331184": "Syndrome with congenital neutropenia as a major feature", "ORPHA:331187": "Immunodeficiency due to MASP-2 deficiency", "ORPHA:331190": "Immunodeficiency due to ficolin3 deficiency", "ORPHA:331193": "Other immunodeficiency syndromes due to defects in innate immunity", "ORPHA:331206": "Severe combined immunodeficiency due to complete RAG1/2 deficiency", "ORPHA:331217": "Syndrome with combined immunodeficiency", "ORPHA:331220": "Syndome with combined immunodeficiency due to thymic defect", "ORPHA:330206": "Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability", "ORPHA:330197": "OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome", "ORPHA:330064": "Chronic actinic dermatitis", "ORPHA:329998": "OBSOLETE: Lymphomatous meningitis", "ORPHA:330001": "Wild type ATTR amyloidosis", "ORPHA:329977": "Classic neuroendocrine tumor of appendix", "ORPHA:329984": "Goblet cell carcinoma", "ORPHA:330012": "High altitude pulmonary edema", "ORPHA:330015": "Lead poisoning", "ORPHA:330006": "NON RARE IN EUROPE: Macular telangiectasia type 2", "ORPHA:330009": "OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk", "ORPHA:330032": "Hemoglobin Lepore-beta-thalassemia syndrome", "ORPHA:330041": "Hemoglobin M disease", "ORPHA:330021": "Mercury poisoning", "ORPHA:330029": "Hypotrichosis-deafness syndrome", "ORPHA:330058": "Hydroa vacciniforme", "ORPHA:330061": "Actinic prurigo", "ORPHA:330050": "DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect", "ORPHA:330054": "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome", "ORPHA:329813": "Mosaic genome-wide paternal uniparental disomy syndrome", "ORPHA:329802": "5p13 microduplication syndrome", "ORPHA:329883": "Non-hypoproteinemic hypertrophic gastropathy", "ORPHA:329874": "Idiopathic giant cell myocarditis", "ORPHA:329475": "Spastic paraplegia-Paget disease of bone syndrome", "ORPHA:329481": "Lipoprotein glomerulopathy", "ORPHA:329478": "Adult-onset distal myopathy due to VCP mutation", "ORPHA:329942": "Transient neonatal multiple acyl-CoA dehydrogenase deficiency", "ORPHA:329931": "C3 glomerulonephritis", "ORPHA:329971": "Generalized juvenile polyposis/juvenile polyposis coli", "ORPHA:329967": "Intermittent hydrarthrosis", "ORPHA:329894": "Juvenile overlap myositis", "ORPHA:329888": "Juvenile idiopathic inflammatory myopathy", "ORPHA:329918": "C3 glomerulopathy", "ORPHA:329903": "Immunoglobulin-mediated membranoproliferative glomerulonephritis", "ORPHA:329308": "Fatty acid hydroxylase-associated neurodegeneration", "ORPHA:329314": "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency", "ORPHA:329319": "Thrombocythemia with distal limb defects", "ORPHA:329324": "Inverse Klippel-Trénaunay syndrome", "ORPHA:329284": "Beta-propeller protein-associated neurodegeneration", "ORPHA:329303": "PLA2G6-associated neurodegeneration", "ORPHA:329457": "Distal arthrogryposis type 5D", "ORPHA:329466": "Autosomal dominant focal dystonia, DYT25 type", "ORPHA:329469": "Acute megakaryoblastic leukemia in children without Down syndrome", "ORPHA:329329": "Autosomal recessive frontotemporal pachygyria", "ORPHA:329332": "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome", "ORPHA:329336": "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy", "ORPHA:329341": "OBSOLETE: Limbic encephalitis with DPP6 antibodies", "ORPHA:329228": "Microcephalic primordial dwarfism due to ZNF335 deficiency", "ORPHA:329224": "Schuurs-Hoeijmakers syndrome", "ORPHA:329217": "Cerebral sinovenous thrombosis", "ORPHA:329211": "Autosomal dominant neovascular inflammatory vitreoretinopathy", "ORPHA:329206": "OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome", "ORPHA:329195": "Developmental delay with autism spectrum disorder and gait instability", "ORPHA:329191": "Tall stature-long halluces-multiple extra-epiphyses syndrome", "ORPHA:329178": "Congenital muscular dystrophy with intellectual disability and severe epilepsy", "ORPHA:329258": "Autosomal dominant Charcot-Marie-Tooth disease type 2Q", "ORPHA:329255": "Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency", "ORPHA:329252": "OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome", "ORPHA:329249": "Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency", "ORPHA:329242": "Congenital chronic diarrhea with protein-losing enteropathy", "ORPHA:329235": "X-linked central congenital hypothyroidism with late-onset testicular enlargement", "ORPHA:328269": "OBSOLETE: Rare bone disease with limb reduction defect", "ORPHA:329173": "Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis", "ORPHA:325697": "Genetic 46,XX difference of sex development", "ORPHA:325690": "Genetic difference of sex development", "ORPHA:325713": "Genetic 46,XY difference of sex development of endocrine origin", "ORPHA:325706": "Genetic 46,XY difference of sex development", "ORPHA:325638": "Syndrome with difference of sex development of gynecological interest", "ORPHA:325665": "Genetic difference of sex development of gynecological interest", "ORPHA:325620": "Difference of sex development of gynecological interest", "ORPHA:325632": "46,XY difference of sex development of gynecological interest", "ORPHA:329": "Congenital factor XI deficiency", "ORPHA:1243": "Best vitelliform macular dystrophy", "ORPHA:325511": "46,XY difference of sex development due to a cholesterol synthesis defect", "ORPHA:325524": "Classic congenital lipoid adrenal hyperplasia due to STAR deficency", "ORPHA:325357": "46,XY difference of sex development due to impaired androgen production", "ORPHA:325448": "Leydig cell hypoplasia due to LHB deficiency", "ORPHA:325546": "Sex chromosome difference of sex development", "ORPHA:325529": "Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency", "ORPHA:325537": "46,XY difference of sex development induced by maternal exposure to endocrine disruptors", "ORPHA:325124": "Testicular agenesis", "ORPHA:325118": "46,XY disorder of gonadal development", "ORPHA:325351": "46,XY difference of sex development of endocrine origin", "ORPHA:325345": "46,XY ovotesticular difference of sex development", "ORPHA:325055": "46,XX disorder of gonadal development", "ORPHA:325109": "Syndrome with 46,XX difference of sex development", "ORPHA:325099": "46,XX difference of sex development induced by exogenous maternal-derived androgen", "ORPHA:325093": "46,XX difference of sex development induced by endogenous maternal-derived androgen", "ORPHA:325061": "46,XX difference of sex development induced by fetoplacental androgens excess", "ORPHA:324982": "OBSOLETE: Adult-onset SAPHO syndrome", "ORPHA:324989": "OBSOLETE: Juvenile-onset SAPHO syndrome", "ORPHA:324999": "JMP syndrome", "ORPHA:325004": "CANDLE syndrome", "ORPHA:324960": "Unexplained periodic fever syndrome of childhood", "ORPHA:324964": "Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis", "ORPHA:324972": "MAGIC syndrome", "ORPHA:324977": "Proteasome-associated autoinflammatory syndrome", "ORPHA:324939": "Periodic fever syndrome of childhood", "ORPHA:324942": "Pyogenic autoinflammatory syndrome of childhood", "ORPHA:324950": "Granulomatous autoinflammatory syndrome of childhood", "ORPHA:324953": "Unclassified autoinflammatory syndrome of childhood", "ORPHA:324927": "Pyogenic autoinflammatory syndrome", "ORPHA:324930": "Granulomatous autoinflammatory syndrome", "ORPHA:324933": "Mixed autoinflammatory and autoimmune syndrome", "ORPHA:324936": "Unclassified autoinflammatory syndrome", "ORPHA:324764": "Trichorhinophalangeal syndrome", "ORPHA:324761": "Microcephalic primordial dwarfism", "ORPHA:324924": "Hereditary periodic fever syndrome", "ORPHA:324767": "Non-familial rare disease with dilated cardiomyopathy", "ORPHA:324718": "ABetaA21G amyloidosis", "ORPHA:324713": "ABeta amyloidosis, Italian type", "ORPHA:324737": "SRD5A3-CDG", "ORPHA:324723": "ABeta amyloidosis, Arctic type", "ORPHA:324648": "Invasive non-typhoidal salmonellosis", "ORPHA:324636": "Autoerythrocyte sensitization syndrome", "ORPHA:324708": "ABeta amyloidosis, Iowa type", "ORPHA:324703": "ABetaL34V amyloidosis", "ORPHA:324611": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation", "ORPHA:324604": "Classic multiminicore myopathy", "ORPHA:324632": "Hendra virus infection", "ORPHA:324625": "Chikungunya", "ORPHA:324588": "Familial dyskinesia and facial myokymia", "ORPHA:324601": "X-linked cleft palate and ankyloglossia", "ORPHA:324581": "Benign Samaritan congenital myopathy", "ORPHA:324585": "Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain", "ORPHA:324569": "Pontocerebellar hypoplasia type 8", "ORPHA:324575": "Hyperinsulinism due to HNF1A deficiency", "ORPHA:324540": "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome", "ORPHA:324561": "Hypopigmentation-punctate palmoplantar keratoderma syndrome", "ORPHA:324530": "Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation", "ORPHA:324535": "Combined oxidative phosphorylation defect type 11", "ORPHA:324525": "Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation", "ORPHA:324442": "Autosomal recessive axonal neuropathy with neuromyotonia", "ORPHA:324416": "Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome", "ORPHA:324422": "ALG13-CDG", "ORPHA:324410": "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome", "ORPHA:324381": "Hereditary inclusion body myopathy type 4", "ORPHA:324364": "Mixed sclerosing bone dystrophy with extra-skeletal manifestations", "ORPHA:324353": "Congenital achiasma", "ORPHA:324321": "Sinoatrial node dysfunction and deafness", "ORPHA:324313": "9p13 microdeletion syndrome", "ORPHA:324307": "Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome", "ORPHA:324299": "Multiple paragangliomas associated with polycythemia", "ORPHA:324294": "T-cell immunodeficiency with epidermodysplasia verruciformis", "ORPHA:324290": "Early-onset Lafora body disease", "ORPHA:322126": "Genetic tumor of hematopoietic and lymphoid tissues", "ORPHA:324262": "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency", "ORPHA:319691": "NON RARE IN EUROPE: Partial color blindness, protan type", "ORPHA:319698": "NON RARE IN EUROPE: Partial color blindness, deutan type", "ORPHA:319705": "NON RARE IN EUROPE: Parkinson disease", "ORPHA:319719": "Autoinflammatory syndrome of childhood", "ORPHA:320317": "OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome", "ORPHA:320332": "X-linked pure spastic paraplegia", "ORPHA:320335": "Pure or complex hereditary spastic paraplegia", "ORPHA:320342": "Pure or complex autosomal dominant spastic paraplegia", "ORPHA:320346": "Pure or complex autosomal recessive spastic paraplegia", "ORPHA:320350": "Pure or complex X-linked spastic paraplegia", "ORPHA:320360": "MT-ATP6-related mitochondrial spastic paraplegia", "ORPHA:320355": "Autosomal dominant spastic paraplegia type 41", "ORPHA:320370": "Autosomal recessive spastic paraplegia type 43", "ORPHA:320365": "Autosomal dominant spastic paraplegia type 36", "ORPHA:320380": "Autosomal recessive spastic paraplegia type 54", "ORPHA:320375": "Autosomal recessive spastic paraplegia type 55", "ORPHA:320391": "Autosomal recessive spastic paraplegia type 46", "ORPHA:320385": "Hereditary sensory and autonomic neuropathy due to TECPR2 mutation", "ORPHA:320401": "Autosomal recessive spastic paraplegia type 44", "ORPHA:320396": "Autosomal recessive spastic paraplegia type 45", "ORPHA:320411": "Autosomal recessive spastic paraplegia type 56", "ORPHA:320406": "Spastic paraplegia-optic atrophy-neuropathy syndrome", "ORPHA:319543": "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "ORPHA:319547": "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency", "ORPHA:319535": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency", "ORPHA:319539": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "ORPHA:319519": "Combined oxidative phosphorylation defect type 14", "ORPHA:319524": "Combined oxidative phosphorylation defect type 15", "ORPHA:319509": "Combined oxidative phosphorylation defect type 9", "ORPHA:319514": "Combined oxidative phosphorylation defect type 13", "ORPHA:319589": "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency", "ORPHA:319595": "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency", "ORPHA:319574": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency", "ORPHA:319581": "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency", "ORPHA:319563": "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency", "ORPHA:319569": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency", "ORPHA:319552": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency", "ORPHA:319558": "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency", "ORPHA:319651": "Constitutional megaloblastic anemia with severe neurologic disease", "ORPHA:319646": "PGM1-CDG", "ORPHA:319640": "Retinal macular dystrophy type 2", "ORPHA:319635": "Amyloidosis cutis dyschromia", "ORPHA:319623": "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency", "ORPHA:319612": "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency", "ORPHA:319605": "X-linked mendelian susceptibility to mycobacterial diseases", "ORPHA:319600": "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency", "ORPHA:319684": "NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency", "ORPHA:319681": "NON RARE IN EUROPE: Lactase non-persistence in adulthood", "ORPHA:319678": "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome", "ORPHA:319675": "Microcephalic primordial dwarfism, Dauber type", "ORPHA:319671": "Alazami syndrome", "ORPHA:319667": "Primary lymphoma of the conjunctiva", "ORPHA:319658": "NON RARE IN EUROPE: Unexplained intellectual disability", "ORPHA:319254": "Kyasanur forest disease", "ORPHA:319266": "Omsk hemorrhagic fever", "ORPHA:319276": "Clear cell renal carcinoma", "ORPHA:319239": "Brazilian hemorrhagic fever", "ORPHA:319244": "Chapare hemorrhagic fever", "ORPHA:319247": "Hantavirus pulmonary syndrome", "ORPHA:319251": "Rift valley fever", "ORPHA:319314": "OBSOLETE: Renal cell carcinoma associated with neuroblastoma", "ORPHA:319319": "Renal medullary carcinoma", "ORPHA:319322": "Mucinous tubular and spindle cell renal carcinoma", "ORPHA:319325": "Tubulocystic renal cell carcinoma", "ORPHA:319287": "Multilocular cystic renal neoplasm of low malignant potential", "ORPHA:319298": "Papillary renal cell carcinoma", "ORPHA:319303": "Chromophobe renal cell carcinoma", "ORPHA:319308": "MiT family translocation renal cell carcinoma", "ORPHA:319332": "Autosomal recessive myogenic arthrogryposis multiplex congenita", "ORPHA:319328": "Inherited renal cancer-predisposing syndrome", "ORPHA:319340": "Carney complex-trismus-pseudocamptodactyly syndrome", "ORPHA:319487": "Familial papillary or follicular thyroid carcinoma", "ORPHA:319480": "Acute myeloid leukemia with CEBPA somatic mutations", "ORPHA:319504": "Combined oxidative phosphorylation defect type 8", "ORPHA:319494": "Familial nonmedullary thyroid carcinoma", "ORPHA:319465": "Inherited acute myeloid leukemia", "ORPHA:319462": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations", "ORPHA:319205": "Bilateral massive adrenal hemorrhage", "ORPHA:319213": "Lujo hemorrhagic fever", "ORPHA:319195": "Chondroectodermal dysplasia with night blindness", "ORPHA:319199": "Autosomal recessive spastic paraplegia type 53", "ORPHA:319229": "Bolivian hemorrhagic fever", "ORPHA:319234": "Venezuelan hemorrhagic fever", "ORPHA:319218": "Ebola hemorrhagic fever", "ORPHA:319223": "Argentine hemorrhagic fever", "ORPHA:319160": "Congenital myopathy with internal nuclei and atypical cores", "ORPHA:319171": "Distal 17p13.1 microdeletion syndrome", "ORPHA:319189": "Familial cortical myoclonus", "ORPHA:319192": "Diencephalic-mesencephalic junction dysplasia", "ORPHA:319182": "Wiedemann-Steiner syndrome", "ORPHA:317419": "T-B- severe combined immunodeficiency", "ORPHA:317416": "T-B+ severe combined immunodeficiency", "ORPHA:317428": "Combined immunodeficiency due to ORAI1 deficiency", "ORPHA:317425": "Severe combined immunodeficiency due to DNA-PKcs deficiency", "ORPHA:317430": "Combined immunodeficiency due to STIM1 deficiency", "ORPHA:317473": "Pancytopenia due to IKZF1 mutations", "ORPHA:317476": "XMEN", "ORPHA:315350": "Autoimmune disease with skin involvement", "ORPHA:315311": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form", "ORPHA:315306": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form", "ORPHA:314993": "Cataract-congenital heart disease-neural tube defect syndrome", "ORPHA:314978": "X-linked non progressive cerebellar ataxia", "ORPHA:314970": "Lymphocytic hypereosinophilic syndrome", "ORPHA:314962": "Secondary hypereosinophilic syndrome", "ORPHA:314950": "Primary hypereosinophilic syndrome", "ORPHA:314946": "OBSOLETE: Mycobacterium xenopi infection", "ORPHA:314928": "NON RARE IN EUROPE: Normal pressure hydrocephalus", "ORPHA:314918": "Mild Canavan disease", "ORPHA:314911": "Severe Canavan disease", "ORPHA:316244": "Partial deletion of the short arm of chromosome 12 syndrome", "ORPHA:316235": "Autosomal dominant spastic ataxia", "ORPHA:316240": "Autosomal recessive spastic ataxia", "ORPHA:316226": "Spastic ataxia", "ORPHA:314701": "Primary systemic amyloidosis", "ORPHA:314697": "Acquired porencephaly", "ORPHA:314709": "Primary localized amyloidosis", "ORPHA:314679": "Cerebrofacioarticular syndrome", "ORPHA:314667": "TMEM165-CDG", "ORPHA:314689": "Combined immunodeficiency due to STK4 deficiency", "ORPHA:314684": "Primary bone lymphoma", "ORPHA:314652": "Variant ABeta2M amyloidosis", "ORPHA:314647": "Non-progressive cerebellar ataxia with intellectual disability", "ORPHA:314662": "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia", "ORPHA:314655": "Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion", "ORPHA:314629": "CLN11 disease", "ORPHA:314621": "Duplication of the pituitary gland", "ORPHA:314637": "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency", "ORPHA:314632": "CLN12 disease", "ORPHA:314802": "Short stature due to partial GHR deficiency", "ORPHA:314811": "Short stature due to GHSR deficiency", "ORPHA:314822": "Primary renal tubular acidosis", "ORPHA:314889": "Autosomal dominant proximal renal tubular acidosis", "ORPHA:314777": "Familial isolated pituitary adenoma", "ORPHA:314786": "Silent pituitary adenoma", "ORPHA:314790": "Null pituitary adenoma", "ORPHA:314795": "SHOX-related short stature", "ORPHA:314753": "Functioning pituitary adenoma", "ORPHA:314759": "Mixed functioning pituitary adenoma", "ORPHA:314769": "Somatomammotropinoma", "ORPHA:314718": "Lethal arteriopathy syndrome due to fibulin-4 deficiency", "ORPHA:314721": "Atypical dentin dysplasia due to SMOC2 deficiency", "ORPHA:314749": "Rare disease with adrenal Cushing syndrome as a major feature", "ORPHA:370127": "Medich giant platelet syndrome", "ORPHA:370114": "Combined cervical dystonia", "ORPHA:370109": "Ataxia-telangiectasia variant", "ORPHA:370106": "Rare disorder with dystonia and other neurologic or systemic manifestation", "ORPHA:370103": "Primary dystonia, DYT17 type", "ORPHA:370097": "Oculocutaneous albinism type 6", "ORPHA:370091": "Oculocutaneous albinism type 5", "ORPHA:370396": "Small cell carcinoma of the ovary", "ORPHA:370348": "Peripheral primitive neuroectodermal tumor", "ORPHA:370334": "Extraskeletal Ewing sarcoma", "ORPHA:370131": "White platelet syndrome", "ORPHA:370046": "Didymosis aplasticosebacea", "ORPHA:370034": "Familial syringomyelia", "ORPHA:370039": "Angora hair nevus", "ORPHA:370022": "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome", "ORPHA:370026": "Acute myeloid leukemia with t(8;16)(p11;p13) translocation", "ORPHA:370015": "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type", "ORPHA:370019": "Spondylometaphyseal dysplasia, Czarny-Ratajczak type", "ORPHA:370088": "Acute infantile liver failure-multisystemic involvement syndrome", "ORPHA:370076": "Fetal carbamazepine syndrome", "ORPHA:370079": "Proximal 16p11.2 microduplication syndrome", "ORPHA:370068": "Fetal anticonvulsant syndrome", "ORPHA:370052": "SCALP syndrome", "ORPHA:370059": "NEVADA syndrome", "ORPHA:371054": "OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature", "ORPHA:371047": "Congenital disorder of glycosylation with neurological involvement", "ORPHA:371071": "Congenital disorder of glycosylation with epilepsy as a major feature", "ORPHA:371064": "OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature", "ORPHA:371007": "Congenital muscular dystrophy with hyperlaxity", "ORPHA:370997": "Muscle-eye-brain disease with bilateral multicystic leucodystrophy", "ORPHA:371040": "Primary qualitative or quantitative defects of alpha-dystroglycan", "ORPHA:371024": "Qualitative or quantitative defects of alpha-dystroglycan", "ORPHA:371183": "Congenital disorder of glycosylation with cardiac malformation as a major feature", "ORPHA:371176": "Congenital disorder of glycosylation with dilated cardiomyopathy", "ORPHA:371195": "Congenital disorder of glycosylation-related bone disorder", "ORPHA:371188": "Congenital disorder of glycosylation with intestinal involvement", "ORPHA:371157": "Congenital disorder of glycosylation with hepatic involvement", "ORPHA:370921": "STT3A-CDG", "ORPHA:370924": "STT3B-CDG", "ORPHA:370927": "SSR4-CDG", "ORPHA:370930": "XYLT1-CDG", "ORPHA:370953": "Congenital muscular dystrophy due to dystroglycanopathy", "ORPHA:370959": "Congenital muscular dystrophy with cerebellar involvement", "ORPHA:370968": "Congenital muscular dystrophy with intellectual disability", "ORPHA:370980": "Congenital muscular dystrophy without intellectual disability", "ORPHA:370933": "GM3 synthase deficiency", "ORPHA:370938": "Salt-and-pepper syndrome", "ORPHA:370943": "Autism spectrum disorder-epilepsy-arthrogryposis syndrome", "ORPHA:365563": "Primary short bowel syndrome", "ORPHA:369929": "Primary hyperaldosteronism-seizures-neurological abnormalities syndrome", "ORPHA:369920": "Pontocerebellar hypoplasia type 9", "ORPHA:369942": "CADDS", "ORPHA:369939": "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome", "ORPHA:369955": "Methylmalonic acidemia with homocystinuria, type cblJ", "ORPHA:369950": "Intellectual disability-seizures-macrocephaly-obesity syndrome", "ORPHA:369970": "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome", "ORPHA:369962": "Methylmalonic acidemia with homocystinuria, type cblX", "ORPHA:369979": "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome", "ORPHA:369992": "Severe dermatitis-multiple allergies-metabolic wasting syndrome", "ORPHA:370002": "Focal palmoplantar keratoderma with joint keratoses", "ORPHA:369999": "Diffuse palmoplantar keratoderma with painful fissures", "ORPHA:370010": "Intellectual disability-facial dysmorphism-hand anomalies syndrome", "ORPHA:370006": "Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome", "ORPHA:369837": "Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome", "ORPHA:369840": "TRAPPC11-related limb-girdle muscular dystrophy R18", "ORPHA:369847": "Intellectual disability-hyperkinetic movement-truncal ataxia syndrome", "ORPHA:369852": "Congenital neutropenia-myelofibrosis-nephromegaly syndrome", "ORPHA:369861": "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome", "ORPHA:369867": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C", "ORPHA:369873": "Obesity due to SIM1 deficiency", "ORPHA:369881": "2p21 microdeletion syndrome without cystinuria", "ORPHA:369886": "Homozygous 2p21 microdeletion syndrome", "ORPHA:369891": "Developmental delay-facial dysmorphism syndrome due to MED13L deficiency", "ORPHA:369894": "OBSOLETE: Early infantile epileptic encephalopathy without suppression burst", "ORPHA:369897": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies", "ORPHA:369902": "OBSOLETE: DDX59-related orofaciodigital syndrome", "ORPHA:369913": "Combined oxidative phosphorylation defect type 17", "ORPHA:364063": "Infantile epileptic-dyskinetic encephalopathy", "ORPHA:364055": "Severe early-childhood-onset retinal dystrophy", "ORPHA:364039": "Hydroa vacciniforme-like lymphoma", "ORPHA:364043": "ALK-positive large B-cell lymphoma", "ORPHA:364028": "X-linked intellectual disability due to GRIA3 mutations", "ORPHA:364033": "Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood", "ORPHA:772": "Infantile Refsum disease", "ORPHA:1194": "TMEM70-related mitochondrial encephalo-cardio-myopathy", "ORPHA:363999": "Non-immune hydrops fetalis", "ORPHA:1048": "Isolated anencephaly/exencephaly", "ORPHA:364013": "Immune hydrops fetalis", "ORPHA:363989": "Familial benign flecked retina", "ORPHA:823": "Spina bifida and other spinal dysraphisms", "ORPHA:363992": "Ichthyosis-short stature-brachydactyly-microspherophakia syndrome", "ORPHA:363976": "Giant cell tumor of bone", "ORPHA:363981": "Charcot-Marie-Tooth disease type 4B3", "ORPHA:363969": "Autosomal recessive cerebral atrophy", "ORPHA:363972": "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia", "ORPHA:363965": "Koolen-De Vries syndrome due to a point mutation", "ORPHA:363958": "17q21.31 microdeletion syndrome", "ORPHA:363746": "Balint syndrome", "ORPHA:363741": "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome", "ORPHA:363727": "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia", "ORPHA:363722": "Alexander disease type II", "ORPHA:363717": "Alexander disease type I", "ORPHA:363710": "Spinocerebellar ataxia type 37", "ORPHA:363705": "Craniofaciofrontodigital syndrome", "ORPHA:363700": "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion", "ORPHA:363694": "Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome", "ORPHA:363686": "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome", "ORPHA:363680": "2p13.2 microdeletion syndrome", "ORPHA:363677": "Childhood-onset autosomal recessive myopathy with external ophthalmoplegia", "ORPHA:364803": "Rare bone disease related to a common gene or pathway defect", "ORPHA:364817": "OBSOLETE: Aggrecan-related bone disorder", "ORPHA:364820": "TRPV4-related bone disorder", "ORPHA:364574": "Acrofacial dysostosis", "ORPHA:364571": "Dysostosis with limb and face anomalies as a major feature", "ORPHA:364577": "Intellectual disability-brachydactyly-Pierre Robin syndrome", "ORPHA:364559": "Dysostosis", "ORPHA:364541": "Otopalatodigital syndrome spectrum disorder", "ORPHA:364568": "Dysostosis with limb anomaly as a major feature", "ORPHA:364526": "Primary bone dysplasia", "ORPHA:364536": "Primary bone dysplasia with micromelia", "ORPHA:364531": "Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments", "ORPHA:364198": "Bipartite talus", "ORPHA:363417": "Temtamy preaxial brachydactyly syndrome", "ORPHA:363409": "Fetal akinesia-cerebral and retinal hemorrhage syndrome", "ORPHA:363412": "Hypomyelination with brain stem and spinal cord involvement and leg spasticity", "ORPHA:363429": "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome", "ORPHA:363432": "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency", "ORPHA:363424": "Multiple mitochondrial dysfunctions syndrome type 3", "ORPHA:363314": "Genetic intestinal polyposis", "ORPHA:363300": "Genetic intractable diarrhea of infancy", "ORPHA:363306": "Genetic intestinal disease due to fat malabsorption", "ORPHA:363396": "High myopia-sensorineural deafness syndrome", "ORPHA:363400": "Severe neurodegenerative syndrome with lipodystrophy", "ORPHA:363266": "OBSOLETE: Rare hereditary iron overload disease", "ORPHA:363250": "Ciliopathy", "ORPHA:363294": "Genetic syndromic Pierre Robin syndrome", "ORPHA:363245": "Genetic progeroid syndrome", "ORPHA:363203": "Ring chromosome syndrome", "ORPHA:363189": "Congenital anomaly of the great veins", "ORPHA:363618": "LMNA-related cardiocutaneous progeria syndrome", "ORPHA:363623": "GMPPB-related limb-girdle muscular dystrophy R19", "ORPHA:363629": "OBSOLETE: GMPPB-related congenital muscular dystrophy", "ORPHA:363649": "Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome", "ORPHA:363654": "X-linked parkinsonism-spasticity syndrome", "ORPHA:363659": "20q11.2 microduplication syndrome", "ORPHA:363665": "Acroosteolysis-keloid-like lesions-premature aging syndrome", "ORPHA:363540": "Leukoencephalopathy with mild cerebellar ataxia and white matter edema", "ORPHA:363543": "Autosomal recessive limb-girdle muscular dystrophy type 2R", "ORPHA:363549": "Acute encephalopathy with biphasic seizures and late reduced diffusion", "ORPHA:363558": "New-onset refractory status epilepticus", "ORPHA:363567": "Acute encephalopathy with inflammation-mediated status epilepticus", "ORPHA:363579": "Extragonadal germ cell tumor", "ORPHA:363582": "Gonadal germ cell tumor", "ORPHA:363611": "CTCF-related neurodevelopmental disorder", "ORPHA:363504": "Germ cell tumor of testis", "ORPHA:363494": "Non-seminomatous germ cell tumor of testis", "ORPHA:363523": "Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome", "ORPHA:363534": "Mitochondrial DNA depletion syndrome, hepatocerebrorenal form", "ORPHA:363528": "Intellectual disability-strabismus syndrome", "ORPHA:363444": "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome", "ORPHA:363454": "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy", "ORPHA:363447": "Autosomal dominant childhood-onset proximal spinal muscular atrophy", "ORPHA:363478": "Paratesticular adenocarcinoma", "ORPHA:363472": "Tumor of testis and paratestis", "ORPHA:363489": "Sex cord-stromal tumor of testis", "ORPHA:363483": "Testicular teratoma", "ORPHA:357175": "Short ulna-dysmorphism-hypotonia-intellectual disability syndrome", "ORPHA:357329": "Combined immunodeficiency due to IL21R deficiency", "ORPHA:357332": "Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome", "ORPHA:357220": "Primary essential cutis verticis gyrata", "ORPHA:357225": "Primary non-essential cutis verticis gyrata", "ORPHA:357237": "Combined immunodeficiency due to CARD11 deficiency", "ORPHA:357506": "Genetic non-syndromic renal or urinary tract malformation", "ORPHA:357502": "Idiopathic nephrotic syndrome", "ORPHA:356978": "D,L-2-hydroxyglutaric aciduria", "ORPHA:356947": "3q26q27 microdeletion syndrome", "ORPHA:356961": "SLC35A2-CDG", "ORPHA:357008": "Hemolytic uremic syndrome with DGKE deficiency", "ORPHA:357001": "19p13.13 microdeletion syndrome", "ORPHA:356996": "ANK3-related intellectual disability-sleep disturbance syndrome", "ORPHA:357043": "Amyotrophic lateral sclerosis type 4", "ORPHA:357034": "Non-hereditary retinoblastoma", "ORPHA:357027": "Hereditary retinoblastoma", "ORPHA:357074": "Autosomal recessive cutis laxa type 2, classic type", "ORPHA:357064": "Autosomal recessive cutis laxa type 2B", "ORPHA:357058": "Autosomal recessive cutis laxa type 2A", "ORPHA:357158": "Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome", "ORPHA:357154": "Oral submucous fibrosis", "ORPHA:357131": "Venous thoracic outlet syndrome", "ORPHA:357107": "Arterial thoracic outlet syndrome", "ORPHA:352654": "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome", "ORPHA:352662": "Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome", "ORPHA:352657": "Hereditary benign intraepithelial dyskeratosis", "ORPHA:352641": "Autosomal recessive cerebellar ataxia with late-onset spasticity", "ORPHA:352636": "Phalangeal microgeodic syndrome", "ORPHA:352649": "Brain dopamine-serotonin vesicular transport disease", "ORPHA:352596": "Progressive myoclonic epilepsy with dystonia", "ORPHA:352629": "16q24.1 microdeletion syndrome", "ORPHA:352613": "Male infertility due to NANOS1 mutation", "ORPHA:352577": "Bainbridge-Ropers syndrome", "ORPHA:352587": "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation", "ORPHA:352582": "Familial infantile myoclonic epilepsy", "ORPHA:352728": "Disorder of melanin metabolism", "ORPHA:352731": "Oculocutaneous albinism type 1", "ORPHA:352734": "Minimal pigment oculocutaneous albinism type 1", "ORPHA:352737": "Temperature-sensitive oculocutaneous albinism type 1", "ORPHA:352709": "CLN13 disease", "ORPHA:352712": "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome", "ORPHA:352718": "Progressive retinal dystrophy due to retinol transport defect", "ORPHA:352723": "Attenuated Chédiak-Higashi syndrome", "ORPHA:352687": "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "ORPHA:352694": "OBSOLETE: Cobblestone lissencephaly type A", "ORPHA:352699": "OBSOLETE: Cobblestone lissencephaly type C", "ORPHA:352704": "OBSOLETE: Cobblestone lissencephaly type B", "ORPHA:352665": "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion", "ORPHA:352670": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F", "ORPHA:352675": "X-linked Charcot-Marie-Tooth disease type 6", "ORPHA:352682": "Cobblestone lissencephaly without muscular or ocular involvement", "ORPHA:353277": "Rubinstein-Taybi syndrome due to CREBBP mutations", "ORPHA:353253": "Burning mouth syndrome", "ORPHA:353225": "NON RARE IN EUROPE: Primary adult open-angle glaucoma", "ORPHA:353220": "Familial primary localized cutaneous amyloidosis", "ORPHA:353217": "Epileptic encephalopathy with global cerebral demyelination", "ORPHA:352763": "Scleredema", "ORPHA:352745": "Oculocutaneous albinism type 7", "ORPHA:352740": "Ocular albinism with congenital sensorineural deafness", "ORPHA:353356": "Vasoproliferative tumor of the retina", "ORPHA:353344": "Idiopathic macular telangiectasia type 1", "ORPHA:353351": "Idiopathic macular telangiectasia type 3", "ORPHA:353334": "Congenital retinal arteriovenous communication", "ORPHA:353320": "Pyruvate carboxylase deficiency, benign type", "ORPHA:353327": "Congenital myasthenic syndromes with glycosylation defect", "ORPHA:353308": "Pyruvate carboxylase deficiency, infantile type", "ORPHA:353314": "Pyruvate carboxylase deficiency, severe neonatal type", "ORPHA:353298": "Roifman syndrome", "ORPHA:353281": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion", "ORPHA:353284": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency", "ORPHA:352298": "OBSOLETE: Genetic muscular channelopathy", "ORPHA:352301": "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis", "ORPHA:352403": "Spectrin-associated autosomal recessive cerebellar ataxia", "ORPHA:352333": "Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome", "ORPHA:352328": "MEGDEL syndrome", "ORPHA:352447": "Progressive external ophthalmoplegia-myopathy-emaciation syndrome", "ORPHA:352312": "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement", "ORPHA:352309": "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement", "ORPHA:352306": "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement", "ORPHA:352530": "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome", "ORPHA:352563": "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency", "ORPHA:352540": "Oncogenic osteomalacia", "ORPHA:352479": "ISPD-related limb-girdle muscular dystrophy R20", "ORPHA:352482": "OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement", "ORPHA:352456": "Mitochondrial DNA maintenance syndrome", "ORPHA:352470": "DNA2-related mitochondrial DNA deletion syndrome", "ORPHA:352497": "OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency", "ORPHA:352504": "OBSOLETE: Levodopa-unresponsive juvenile parkinsonism", "ORPHA:352487": "Digital anomalies-intellectual disability-short stature syndrome", "ORPHA:352490": "Autism spectrum disorder due to AUTS2 deficiency", "ORPHA:294951": "Congenital joint dislocations", "ORPHA:294949": "Non-syndromic joint formation defects", "ORPHA:294955": "Syndrome with limb reduction defects", "ORPHA:294953": "Non-syndromic limb overgrowth", "ORPHA:294942": "OBSOLETE: Postaxial polydactyly of fingers", "ORPHA:294939": "OBSOLETE: Preaxial polydactyly of fingers", "ORPHA:294947": "Congenital deformities of fingers", "ORPHA:294944": "Congenital deformities of limbs", "ORPHA:294931": "OBSOLETE: Adactyly of hand", "ORPHA:294937": "OBSOLETE: Brachydactyly", "ORPHA:294935": "OBSOLETE: Split hand or/and split foot malformation", "ORPHA:294925": "Non-syndromic amelia", "ORPHA:294929": "OBSOLETE: Terminal limb defects", "ORPHA:294927": "Non-syndromic intercalary limb defects", "ORPHA:294415": "Renal-hepatic-pancreatic dysplasia", "ORPHA:294422": "Chronic intestinal failure", "ORPHA:294049": "Reunion Island Larsen-like syndrome", "ORPHA:294057": "Rare nevus", "ORPHA:294060": "Multiple pterygium syndrome", "ORPHA:293987": "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome", "ORPHA:294016": "Microcephaly-capillary malformation syndrome", "ORPHA:294023": "Neonatal inflammatory skin and bowel disease", "ORPHA:294026": "Syndactyly-nystagmus syndrome due to 2q31.1 microduplication", "ORPHA:293964": "Hypoinsulinemic hypoglycemia and body hemihypertrophy", "ORPHA:293967": "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome", "ORPHA:293978": "Deficiency in anterior pituitary function-variable immunodeficiency syndrome", "ORPHA:293958": "Hypertelorism-preauricular sinus-punctual pits-deafness syndrome", "ORPHA:293955": "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency", "ORPHA:293948": "1p21.3 microdeletion syndrome", "ORPHA:293939": "Distal Xq28 microduplication syndrome", "ORPHA:293936": "EDICT syndrome", "ORPHA:293925": "Lethal occipital encephalocele-skeletal dysplasia syndrome", "ORPHA:293910": "Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant", "ORPHA:293899": "Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant", "ORPHA:293888": "Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant", "ORPHA:293864": "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome", "ORPHA:293848": "Frontotemporal dementia, right temporal atrophy variant", "ORPHA:293838": "Fatal infantile encephalopathy-pulmonary hypertension syndrome", "ORPHA:293843": "3MC syndrome", "ORPHA:293830": "Constitutional dyserythropoietic anemia", "ORPHA:293822": "MITF-related melanoma and renal cell carcinoma predisposition syndrome", "ORPHA:293825": "Congenital dyserythropoietic anemia type IV", "ORPHA:293812": "Fixed drug eruption", "ORPHA:293815": "Toxic dermatosis", "ORPHA:293807": "Ketamine-induced biliary dilatation", "ORPHA:293725": "Blepharophimosis-intellectual disability syndrome, Verloes type", "ORPHA:293642": "Blepharophimosis-intellectual disability syndrome", "ORPHA:293707": "Blepharophimosis-intellectual disability syndrome, MKB type", "ORPHA:293633": "PYCR1-related De Barsy syndrome", "ORPHA:295075": "OBSOLETE: Ulnar hemimelia, unilateral", "ORPHA:295073": "OBSOLETE: Ulnar hemimelia, bilateral", "ORPHA:295079": "OBSOLETE: Tibial hemimelia, bilateral", "ORPHA:295077": "OBSOLETE: Tibial hemimelia, unilateral", "ORPHA:295083": "OBSOLETE: Fibular hemimelia, bilateral", "ORPHA:295081": "OBSOLETE: Fibular hemimelia, unilateral", "ORPHA:295087": "OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral", "ORPHA:295085": "OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral", "ORPHA:295059": "OBSOLETE: Amelia of lower limb, bilateral", "ORPHA:295057": "OBSOLETE: Amelia of lower limb, unilateral", "ORPHA:295063": "OBSOLETE: Humeral agenesis/hypoplasia, bilateral", "ORPHA:295061": "OBSOLETE: Humeral agenesis/hypoplasia, unilateral", "ORPHA:295067": "OBSOLETE: Femoral agenesis/hypoplasia, bilateral", "ORPHA:295065": "OBSOLETE: Femoral agenesis/hypoplasia, unilateral", "ORPHA:295071": "OBSOLETE: Radial hemimelia, bilateral", "ORPHA:295069": "OBSOLETE: Radial hemimelia, unilateral", "ORPHA:295038": "OBSOLETE: Patella aplasia/hypoplasia, unilateral", "ORPHA:295041": "OBSOLETE: Patella aplasia/hypoplasia, bilateral", "ORPHA:295044": "Macrodactyly of fingers", "ORPHA:295047": "Macrodactyly of toes", "ORPHA:295049": "Upper limb hypertrophy", "ORPHA:295051": "Lower limb hypertrophy", "ORPHA:295053": "OBSOLETE: Amelia of upper limb, unilateral", "ORPHA:295055": "OBSOLETE: Amelia of upper limb, bilateral", "ORPHA:295022": "Congenital pseudoarthrosis of the fibula", "ORPHA:295024": "Congenital pseudoarthrosis of the radius", "ORPHA:295026": "Congenital pseudoarthrosis of the ulna", "ORPHA:295028": "Isolated tibio-fibular synostosis", "ORPHA:295030": "True congenital shoulder dislocation", "ORPHA:295032": "Isolated congenital radial head dislocation", "ORPHA:295034": "Congenital knee dislocation", "ORPHA:295036": "Congenital patella dislocation", "ORPHA:295012": "Syndactyly type 6", "ORPHA:295010": "OBSOLETE: Central polydactyly of toes", "ORPHA:295008": "OBSOLETE: Postaxial polydactyly of toes", "ORPHA:295006": "OBSOLETE: Preaxial polydactyly of toes", "ORPHA:295020": "Congenital pseudoarthrosis of the femur", "ORPHA:295018": "Congenital pseudoarthrosis of the tibia", "ORPHA:295016": "Camptodactyly of fingers", "ORPHA:295014": "Familial isolated clinodactyly of fingers", "ORPHA:294996": "OBSOLETE: Brachydactyly of fingers", "ORPHA:294994": "OBSOLETE: Split foot", "ORPHA:294992": "OBSOLETE: Split hand", "ORPHA:294990": "OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb", "ORPHA:295004": "Central polydactyly", "ORPHA:295002": "Isolated hyperphalangy", "ORPHA:295000": "Amniotic band syndrome", "ORPHA:294998": "OBSOLETE: Brachydactyly of toes", "ORPHA:294977": "Isolated absence of thigh and lower leg with foot present", "ORPHA:294979": "Isolated absence of both forearm and hand", "ORPHA:294973": "Isolated humeral agenesis/hypoplasia", "ORPHA:294975": "Isolated absence of upper arm and forearm with hand present", "ORPHA:294986": "Isolated apodia", "ORPHA:294988": "Isolated hypoplasia of thumb", "ORPHA:294981": "Isolated absence of both lower leg and foot", "ORPHA:294983": "Isolated acheiria", "ORPHA:294961": "OBSOLETE: Syndromes with synostoses of limbs", "ORPHA:294963": "Popliteal pterygium syndrome", "ORPHA:294957": "Dysostosis with combined reduction defects of upper and lower limbs", "ORPHA:294959": "Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy", "ORPHA:294969": "Isolated amelia of lower limb", "ORPHA:294971": "Isolated tetra-amelia", "ORPHA:294965": "Lethal congenital contracture syndrome", "ORPHA:294967": "Isolated amelia of upper limb", "ORPHA:290842": "Autoinflammatory syndrome with skin involvement", "ORPHA:290849": "Rare head and neck tumor", "ORPHA:289891": "Hypermethioninemia due to glycine N-methyltransferase deficiency", "ORPHA:289902": "3-methylglutaconic aciduria", "ORPHA:289899": "Organic aciduria", "ORPHA:289866": "Disorder of proline metabolism", "ORPHA:289863": "Atypical glycine encephalopathy", "ORPHA:289877": "Transient hyperammonemia of the newborn", "ORPHA:289869": "Disorder of ornithine metabolism", "ORPHA:290839": "Autoinflammatory syndrome with immune deficiency", "ORPHA:290836": "Systemic disease with skin involvement", "ORPHA:289916": "Vitamin B12-unresponsive methylmalonic acidemia type mut0", "ORPHA:289682": "Lymphoepithelial-like carcinoma", "ORPHA:289685": "Myopericytoma", "ORPHA:289661": "Epstein-Barr virus-positive diffuse large B-cell lymphoma", "ORPHA:289666": "Plasmablastic lymphoma", "ORPHA:289651": "Epstein-Barr Virus-associated carcinoma", "ORPHA:289656": "Epstein-Barr Virus-associated mesenchymal tumor", "ORPHA:289638": "Epstein-Barr Virus-related tumor", "ORPHA:289644": "Epstein-Barr virus-associated malignant lymphoproliferative disorder", "ORPHA:289857": "Neonatal glycine encephalopathy", "ORPHA:289860": "Infantile glycine encephalopathy", "ORPHA:289846": "Glutathione synthetase deficiency with 5-oxoprolinuria", "ORPHA:289849": "Glutathione synthetase deficiency without 5-oxoprolinuria", "ORPHA:289832": "Disorder of lysine and hydroxylysine metabolism", "ORPHA:289841": "Disorder of glutamine metabolism", "ORPHA:289825": "Late-onset primary lymphedema without systemic or visceral involvement", "ORPHA:289829": "Disorder of tryptophan metabolism", "ORPHA:289573": "Multiple mitochondrial dysfunctions syndrome", "ORPHA:289560": "Mitochondrial membrane protein-associated neurodegeneration", "ORPHA:289553": "Dysmorphism-conductive hearing loss-heart defect syndrome", "ORPHA:289548": "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency", "ORPHA:289539": "BAP1-related tumor predisposition syndrome", "ORPHA:289635": "Rare virus associated tumor", "ORPHA:289601": "Hereditary arterial and articular multiple calcification syndrome", "ORPHA:289596": "Juvenile nasopharyngeal angiofibroma", "ORPHA:289586": "Exfoliative ichthyosis", "ORPHA:293355": "Methylmalonic acidemia without homocystinuria", "ORPHA:293375": "Grayson-Wilbrandt corneal dystrophy", "ORPHA:293381": "Epithelial recurrent erosion dystrophy", "ORPHA:293462": "Pre-Descemet corneal dystrophy", "ORPHA:293603": "Congenital hereditary endothelial dystrophy type II", "ORPHA:293621": "X-linked endothelial corneal dystrophy", "ORPHA:811": "Shwachman-Diamond syndrome", "ORPHA:2689": "Intermittent neutropenia", "ORPHA:2687": "Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome", "ORPHA:336": "NON RARE IN EUROPE: Fibromuscular dysplasia of arteries", "ORPHA:293150": "Familial clubfoot due to PITX1 point mutation", "ORPHA:741": "Familial mitral valve prolapse", "ORPHA:293144": "Familial clubfoot due to 5q31 microdeletion", "ORPHA:293168": "Infantile-onset ascending hereditary spastic paralysis", "ORPHA:293165": "Skin fragility-woolly hair-palmoplantar keratoderma syndrome", "ORPHA:428": "Autosomal dominant hypocalcemia", "ORPHA:293181": "Epilepsy of infancy with migrating focal seizures", "ORPHA:2298": "Insulin-resistance syndrome type B", "ORPHA:2207": "Familial primary hyperparathyroidism", "ORPHA:293173": "Acute generalized exanthematous pustulosis", "ORPHA:293199": "Pleomorphic rhabdomyosarcoma", "ORPHA:393": "46,XX testicular difference of sex development", "ORPHA:293190": "OBSOLETE: Pleomorphic undifferentiated sarcoma", "ORPHA:293202": "Epithelioid sarcoma", "ORPHA:293284": "Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria", "ORPHA:293208": "Celiac artery compression syndrome", "ORPHA:2459": "Mansonelliasis", "ORPHA:2404": "Loiasis", "ORPHA:2394": "Pyruvate dehydrogenase E3 deficiency", "ORPHA:2356": "Arachnoid cyst", "ORPHA:829": "Adult-onset Still disease", "ORPHA:3096": "Reye syndrome", "ORPHA:1929": "Rasmussen subacute encephalitis", "ORPHA:1183": "Opsoclonus-myoclonus syndrome", "ORPHA:2688": "Adult idiopathic neutropenia", "ORPHA:2686": "Cyclic neutropenia", "ORPHA:890": "Hepatic veno-occlusive disease", "ORPHA:176": "Non-rhizomelic chondrodysplasia punctata", "ORPHA:231": "Dracunculiasis", "ORPHA:2035": "Lymphatic filariasis", "ORPHA:80": "Antiphospholipid syndrome", "ORPHA:285657": "Disorder of folate metabolism and transport", "ORPHA:284786": "Qualitative or quantitative defects of troponin", "ORPHA:284790": "Qualitative or quantitative defects of tropomyosin", "ORPHA:284804": "Ocular albinism", "ORPHA:284448": "CLIPPERS", "ORPHA:284454": "Acute zonal occult outer retinopathy", "ORPHA:284460": "Acute annular outer retinopathy", "ORPHA:284414": "Glycerol kinase deficiency, adult form", "ORPHA:284417": "Phosphoserine aminotransferase deficiency, infantile/juvenile form", "ORPHA:284426": "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency", "ORPHA:284435": "Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency", "ORPHA:285014": "Rare disease with thoracic aortic aneurysm and aortic dissection", "ORPHA:284993": "Marfan syndrome and Marfan-related disorders", "ORPHA:284973": "Marfan syndrome type 2", "ORPHA:284963": "Marfan syndrome type 1", "ORPHA:284984": "Aneurysm-osteoarthritis syndrome", "ORPHA:284979": "Neonatal Marfan syndrome", "ORPHA:284814": "Disorder of phenylalanine metabolism", "ORPHA:284811": "Syndromic oculocutaneous albinism", "ORPHA:284818": "Disorder of tyrosine metabolism", "ORPHA:289362": "Non-central nervous system-localized embryonal carcinoma", "ORPHA:289365": "Familial vesicoureteral reflux", "ORPHA:289347": "Infective dermatitis associated with HTLV-1", "ORPHA:289356": "Primary non-gestational choriocarcinoma of ovary", "ORPHA:289377": "Early-onset myopathy with fatal cardiomyopathy", "ORPHA:289380": "Myosclerosis", "ORPHA:289290": "Hypermethioninemia encephalopathy due to adenosine kinase deficiency", "ORPHA:289266": "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation", "ORPHA:289326": "Tropical spastic paraparesis", "ORPHA:289307": "Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency", "ORPHA:289504": "Combined malonic and methylmalonic acidemia", "ORPHA:289499": "Congenital cataract microcornea with corneal opacity", "ORPHA:289494": "4H leukodystrophy", "ORPHA:289527": "OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency", "ORPHA:289522": "Microtriplication 11q24.1 syndrome", "ORPHA:289513": "12q15q21.1 microdeletion syndrome", "ORPHA:289465": "Isolated congenital adermatoglyphia", "ORPHA:289395": "NON RARE IN EUROPE: Secondary Sjögren syndrome", "ORPHA:289390": "Primary Sjögren syndrome", "ORPHA:289385": "Malignancy diagnosed during pregnancy", "ORPHA:289483": "Intellectual disability-alacrima-achalasia syndrome", "ORPHA:289478": "PASH syndrome", "ORPHA:289103": "Hypocalcemic rickets", "ORPHA:289098": "Disorders of vitamin D metabolism", "ORPHA:289176": "Autosomal recessive hypophosphatemic rickets", "ORPHA:289157": "Hypocalcemic vitamin D-dependent rickets", "ORPHA:280926": "Systemic diseases with anterior uveitis", "ORPHA:280921": "Idiopathic panuveitis", "ORPHA:280917": "Idiopathic posterior uveitis", "ORPHA:280914": "Isolated idiopathic anterior uveitis", "ORPHA:280898": "Panuveitis", "ORPHA:280892": "Posterior uveitis", "ORPHA:280886": "Anterior uveitis", "ORPHA:281103": "Keratinopathic ichthyosis", "ORPHA:281097": "Autosomal recessive congenital ichthyosis", "ORPHA:281090": "Syndromic recessive X-linked ichthyosis", "ORPHA:281085": "Inherited ichthyosis syndromic form", "ORPHA:281082": "Inherited non-syndromic ichthyosis", "ORPHA:280933": "Systemic diseases with panuveitis", "ORPHA:280930": "Systemic diseases with posterior uveitis", "ORPHA:281210": "X-linked ichthyosis syndrome", "ORPHA:281217": "Autosomal ichthyosis syndrome", "ORPHA:281190": "Congenital reticular ichthyosiform erythroderma", "ORPHA:281201": "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome", "ORPHA:281139": "Annular epidermolytic ichthyosis", "ORPHA:281122": "Self-improving collodion baby", "ORPHA:281127": "Acral self-healing collodion baby", "ORPHA:281244": "Autosomal ichthyosis syndrome with other associated signs", "ORPHA:281238": "Autosomal ichthyosis syndrome with prominent neurologic signs", "ORPHA:281241": "Autosomal ichthyosis syndrome with fatal disease course", "ORPHA:281222": "Autosomal ichthyosis syndrome with prominent hair abnormalities", "ORPHA:281234": "OBSOLETE: Congenital ichthyosis with trichothiodystrophy", "ORPHA:280628": "Familial progressive hyper- and hypopigmentation", "ORPHA:280633": "Multiple congenital anomalies-hypotonia-seizures syndrome", "ORPHA:280615": "Hemoglobinopathy Toms River", "ORPHA:280598": "Hereditary sensorimotor neuropathy with hyperelastic skin", "ORPHA:280620": "Progressive myoclonic epilepsy type 6", "ORPHA:280663": "Hermansky-Pudlak syndrome type 9", "ORPHA:280671": "Megaconial congenital muscular dystrophy", "ORPHA:280640": "Occipital pachygyria and polymicrogyria", "ORPHA:280654": "Autosomal recessive nail dysplasia", "ORPHA:280651": "OBSOLETE: Acrodysostosis with multiple hormone resistance", "ORPHA:280779": "Cutaneous collagenous vasculopathy", "ORPHA:280785": "Bullous diffuse cutaneous mastocytosis", "ORPHA:280794": "Pseudoxanthomatous diffuse cutaneous mastocytosis", "ORPHA:280802": "Intralobar congenital pulmonary sequestration", "ORPHA:280679": "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome", "ORPHA:280763": "Severe intellectual disability and progressive spastic paraplegia", "ORPHA:280774": "Generalized essential telangiectasia", "ORPHA:280840": "Congenital pulmonary airway malformation type 2", "ORPHA:280847": "Congenital pulmonary airway malformation type 3", "ORPHA:280854": "Congenital pulmonary airway malformation type 4", "ORPHA:280811": "Extralobar congenital pulmonary sequestration", "ORPHA:280821": "Communicating congenital bronchopulmonary-foregut malformation", "ORPHA:280827": "Congenital pulmonary airway malformation type 0", "ORPHA:280832": "Congenital pulmonary airway malformation type 1", "ORPHA:284149": "Craniosynostosis-dental anomalies", "ORPHA:284139": "Larsen-like syndrome, B3GAT3 type", "ORPHA:284180": "Xp22.13p22.2 duplication syndrome", "ORPHA:284169": "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion", "ORPHA:284160": "8q21.11 microdeletion syndrome", "ORPHA:284247": "Familial retinal arterial macroaneurysm", "ORPHA:284232": "Autosomal dominant Charcot-Marie-Tooth disease type 2O", "ORPHA:284227": "TEMPI syndrome", "ORPHA:284271": "Autosomal recessive cerebellar ataxia-psychomotor delay syndrome", "ORPHA:284264": "IgG4-related disease", "ORPHA:284324": "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia", "ORPHA:284282": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency", "ORPHA:284289": "Adult-onset autosomal recessive cerebellar ataxia", "ORPHA:284343": "DICER1 tumor-predisposition syndrome", "ORPHA:284332": "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia", "ORPHA:284339": "Pontocerebellar hypoplasia type 7", "ORPHA:284385": "Familial intrahepatic cholestasis", "ORPHA:284388": "Reversible cerebral vasoconstriction syndrome", "ORPHA:284362": "Fetal lung interstitial tumor", "ORPHA:284408": "OBSOLETE: Glycerol kinase deficiency, infantile form", "ORPHA:284411": "Glycerol kinase deficiency, juvenile form", "ORPHA:284395": "Well-differentiated fetal adenocarcinoma of the lung", "ORPHA:284400": "Small cell carcinoma of the bladder", "ORPHA:282124": "Partial deletion of chromosome 12 syndrome", "ORPHA:282196": "Autoimmune polyendocrinopathy", "ORPHA:282166": "Inherited Creutzfeldt-Jakob disease", "ORPHA:284130": "NON RARE IN EUROPE: Rheumatoid arthritis", "ORPHA:309848": "Disorder of magnesium transport", "ORPHA:309845": "Disorder of zinc metabolism and transport", "ORPHA:309842": "Disorder of iron metabolism and transport", "ORPHA:309839": "Disorder of copper metabolism", "ORPHA:310050": "Acquired immunodeficiency", "ORPHA:309854": "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome", "ORPHA:309851": "Disorder of manganese transport", "ORPHA:309824": "Disorder of metabolite absorption and transport", "ORPHA:309819": "Disorder of pterin metabolism", "ORPHA:309816": "Disorder of bilirubin metabolism and excretion", "ORPHA:309813": "Disorder of porphyrin and heme metabolism", "ORPHA:309836": "Disorder of mineral absorption and transport", "ORPHA:309833": "Disorder of other vitamins and cofactors metabolism and transport", "ORPHA:309830": "Disorder of catecholamine synthesis", "ORPHA:309827": "Disorder of vitamin and non-protein cofactor absorption and transport", "ORPHA:309568": "Defect in conserved oligomeric Golgi complex", "ORPHA:309778": "Defect in V-ATPase", "ORPHA:309515": "Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation", "ORPHA:309526": "Disorder of multiple glycosylation", "ORPHA:309803": "Rhizomelic chondrodysplasia punctata type 3", "ORPHA:309810": "Disorder of peroxisomal alpha-, beta- and omega-oxidation", "ORPHA:309789": "Rhizomelic chondrodysplasia punctata type 1", "ORPHA:309796": "Rhizomelic chondrodysplasia punctata type 2", "ORPHA:309447": "Disorder of protein O-glycosylation", "ORPHA:309450": "Disorder of O-xylosylglycan synthesis", "ORPHA:309340": "Disorder of lysosomal-related organelles", "ORPHA:309347": "Disorder of protein N-glycosylation", "ORPHA:309469": "Disorder of O-mannosylglycan synthesis", "ORPHA:309505": "Disorder of fucoglycosan synthesis", "ORPHA:309458": "Disorder of O-N-acetylgalactosaminylglycan synthesis", "ORPHA:309463": "Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis", "ORPHA:314029": "High bone mass osteogenesis imperfecta", "ORPHA:314022": "Gastric adenocarcinoma and proximal polyposis of the stomach", "ORPHA:314017": "Idiopathic linear interstitial keratitis", "ORPHA:314002": "Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome", "ORPHA:313947": "2q23.1 microduplication syndrome", "ORPHA:313936": "PENS syndrome", "ORPHA:313920": "Epstein-Barr virus-associated gastric carcinoma", "ORPHA:313906": "Congenital pancreatic cyst", "ORPHA:313892": "Developmental and speech delay due to SOX5 deficiency", "ORPHA:313884": "12p12.1 microdeletion syndrome", "ORPHA:313855": "FGFR2-related bent bone dysplasia", "ORPHA:313850": "Infantile cerebellar-retinal degeneration", "ORPHA:313846": "Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome", "ORPHA:313838": "Coats plus syndrome", "ORPHA:313800": "Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome", "ORPHA:313808": "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", "ORPHA:313781": "20p13 microdeletion syndrome", "ORPHA:313795": "Jawad syndrome", "ORPHA:313772": "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome", "ORPHA:314603": "Autosomal recessive spastic ataxia with leukoencephalopathy", "ORPHA:314597": "Chudley-McCullough syndrome", "ORPHA:314613": "Growing teratoma syndrome", "ORPHA:314575": "Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome", "ORPHA:314572": "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome", "ORPHA:314588": "Distal triplication 15q syndrome", "ORPHA:314585": "15q overgrowth syndrome", "ORPHA:314485": "Young adult-onset distal hereditary motor neuropathy", "ORPHA:314566": "Primary progressive apraxia of speech", "ORPHA:314555": "Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome", "ORPHA:314466": "Atypical Meigs syndrome", "ORPHA:314459": "Pseudo-Meigs syndrome", "ORPHA:314478": "Ovarian fibrothecoma", "ORPHA:314473": "Ovarian fibroma", "ORPHA:314422": "Ameloblastic carcinoma", "ORPHA:314425": "Rare odontogenic tumor", "ORPHA:314432": "Spigelian hernia-cryptorchidism syndrome", "ORPHA:314451": "Meigs syndrome", "ORPHA:314394": "Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome", "ORPHA:314399": "Autosomal dominant aplasia and myelodysplasia", "ORPHA:314404": "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome", "ORPHA:314419": "Ameloblastoma", "ORPHA:314373": "Chronic infantile diarrhea due to guanylate cyclase 2C overactivity", "ORPHA:314376": "Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency", "ORPHA:314381": "Hereditary sensory and autonomic neuropathy type 6", "ORPHA:314389": "Xq12-q13.3 duplication syndrome", "ORPHA:314034": "7p22.1 microduplication syndrome", "ORPHA:314041": "Marfanoid habitus-inguinal hernia-advanced bone age syndrome", "ORPHA:314051": "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome", "ORPHA:306756": "Epilepsy and/or ataxia with myoclonus as a major feature", "ORPHA:306759": "Non progressive epilepsy and/or ataxia with myoclonus as a major feature", "ORPHA:306750": "Primary myoclonus", "ORPHA:306753": "Rare disease with myoclonus as a major feature", "ORPHA:306768": "Rare paroxysmal movement disorder", "ORPHA:306773": "Hyperekplexia", "ORPHA:306762": "OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature", "ORPHA:306765": "Motor stereotypies", "ORPHA:307055": "Rare parkinsonian syndrome due to genetic neurodegenerative disease", "ORPHA:307058": "Miscellaneous movement disorder due to genetic neurodegenerative disease", "ORPHA:306776": "Sporadic hyperekplexia", "ORPHA:307052": "Rare genetic parkinsonian disorder", "ORPHA:307067": "Rare genetic disease with myoclonus as a major feature", "ORPHA:307141": "Diffuse palmoplantar keratoderma", "ORPHA:307061": "Rare genetic tremor disorder", "ORPHA:307064": "Rare genetic myoclonus", "ORPHA:306682": "Manganese poisoning", "ORPHA:306679": "Rare parkinsonian syndrome due to intoxication", "ORPHA:306674": "Kufor-Rakeb syndrome", "ORPHA:306669": "Hemiparkinsonism-hemiatrophy syndrome", "ORPHA:306708": "Frontotemporal neurodegeneration with movement disorder", "ORPHA:306695": "Miscellaneous movement disorder due to neurodegenerative disease", "ORPHA:306692": "Cyanide-induced parkinsonism-dystonia", "ORPHA:306686": "Delayed encephalopathy due to carbon monoxide poisoning", "ORPHA:306727": "Postinfectious autoimmune disease with chorea", "ORPHA:306719": "Neurodegenerative disease with chorea", "ORPHA:306715": "Rare choreic movement disorder", "ORPHA:306712": "Rare tremor disorder", "ORPHA:306747": "Rare myoclonus", "ORPHA:306741": "Hemidystonia-hemiatrophy syndrome", "ORPHA:306734": "Primary dystonia, DYT21 type", "ORPHA:306731": "Sydenham chorea", "ORPHA:308166": "Erythrokeratoderma variabilis progressiva", "ORPHA:308380": "Methylcobalamin deficiency type cblDv1", "ORPHA:308386": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A", "ORPHA:308393": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B", "ORPHA:308400": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C", "ORPHA:308407": "Disorder of beta and omega amino acid metabolism", "ORPHA:308410": "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency", "ORPHA:308425": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "ORPHA:307711": "Disease with diffuse palmoplantar keratoderma as a major feature", "ORPHA:307148": "Isolated diffuse palmoplantar keratoderma", "ORPHA:307766": "Curly hair-acral keratoderma-caries syndrome", "ORPHA:307804": "Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature", "ORPHA:307773": "Autosomal dominant diffuse mutilating palmoplantar keratoderma", "ORPHA:307846": "Isolated focal palmoplantar keratoderma", "ORPHA:307837": "Focal palmoplantar keratoderma", "ORPHA:307936": "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome", "ORPHA:307871": "Disease with focal palmoplantar keratoderma as a major feature", "ORPHA:307995": "Marginal papular palmoplantar keratoderma", "ORPHA:307967": "Punctate palmoplantar keratoderma", "ORPHA:308023": "Disease with punctate palmoplantar keratoderma as a major feature", "ORPHA:308013": "Focal acral hyperkeratosis", "ORPHA:308041": "Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature", "ORPHA:308031": "Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature", "ORPHA:309001": "Disorder of carbohydrate absorption and transport", "ORPHA:309005": "Disorder of lipid metabolism", "ORPHA:308993": "Glycerol kinase deficiency", "ORPHA:308998": "Disorder of glyoxylate metabolism", "ORPHA:308698": "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form", "ORPHA:308712": "Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form", "ORPHA:308670": "Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form", "ORPHA:308684": "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form", "ORPHA:309111": "Combined pancreatic lipase-colipase deficiency", "ORPHA:309115": "Disorder of fatty acid oxidation and ketogenesis", "ORPHA:309031": "Pancreatic triacylglycerol lipase deficiency", "ORPHA:309108": "Pancreatic colipase deficiency", "ORPHA:309025": "Mevalonate kinase deficiency", "ORPHA:309028": "Disorder of lipid absorption and transport", "ORPHA:309015": "Familial lipoprotein lipase deficiency", "ORPHA:309020": "Familial apolipoprotein C-II deficiency", "ORPHA:308487": "Generalized galactose epimerase deficiency", "ORPHA:178": "Chordoma", "ORPHA:308473": "Erythrocyte galactose epimerase deficiency", "ORPHA:308467": "Disorder of galactose metabolism", "ORPHA:2637": "Microcephalic osteodysplastic primordial dwarfism type II", "ORPHA:308463": "Disorder of fructose metabolism", "ORPHA:592": "Macrophagic myofasciitis", "ORPHA:77": "OBSOLETE: Aniridia", "ORPHA:308459": "Disorder of glycolysis", "ORPHA:308451": "Disorder of neutral amino acid transport", "ORPHA:308448": "Aminoacylase deficiency", "ORPHA:308442": "Vitamin B12-responsive methylmalonic acidemia, type cblDv2", "ORPHA:308655": "Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form", "ORPHA:308638": "Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form", "ORPHA:308621": "Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form", "ORPHA:308604": "OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset", "ORPHA:308573": "OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset", "ORPHA:308552": "Glycogen storage disease due to acid maltase deficiency, infantile onset", "ORPHA:308520": "Glycogen storage disease due to glycogen synthase deficiency", "ORPHA:309271": "Metachromatic leukodystrophy, adult form", "ORPHA:309279": "Glycoproteinosis", "ORPHA:309282": "Alpha-mannosidosis, infantile form", "ORPHA:309288": "Alpha-mannosidosis, adult form", "ORPHA:309246": "GM2 gangliosidosis, AB variant", "ORPHA:309252": "Atypical Gaucher disease due to saposin C deficiency", "ORPHA:309256": "Metachromatic leukodystrophy, late infantile form", "ORPHA:309263": "Metachromatic leukodystrophy, juvenile form", "ORPHA:309324": "Free sialic acid storage disease, infantile form", "ORPHA:309331": "Intermediate severe Salla disease", "ORPHA:309334": "Salla disease", "ORPHA:309337": "Lysosomal glycogen storage disease", "ORPHA:309294": "Sialidosis", "ORPHA:309297": "Mucopolysaccharidosis type 4A", "ORPHA:309310": "Mucopolysaccharidosis type 4B", "ORPHA:309319": "Disorder of sialic acid metabolism", "ORPHA:309139": "OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA", "ORPHA:309136": "Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes", "ORPHA:309147": "Hyper-beta-alaninemia", "ORPHA:309144": "Gangliosidosis", "ORPHA:309127": "3-hydroxyacyl-CoA dehydrogenase deficiency", "ORPHA:309120": "Acyl-CoA dehydrogenase deficiency", "ORPHA:309133": "Metabolic disease due to other fatty acid oxidation disorder", "ORPHA:309130": "Disorder of carnitine cycle and carnitine transport", "ORPHA:309185": "Tay-Sachs disease, juvenile form", "ORPHA:309178": "Tay-Sachs disease, infantile form", "ORPHA:309239": "OBSOLETE: Tay-Sachs disease, B1 variant", "ORPHA:309192": "Tay-Sachs disease, adult form", "ORPHA:309155": "Sandhoff disease, infantile form", "ORPHA:309152": "GM2 gangliosidosis", "ORPHA:309169": "Sandhoff disease, adult form", "ORPHA:309162": "Sandhoff disease, juvenile form", "ORPHA:300547": "Autosomal recessive infantile hypercalcemia", "ORPHA:300552": "Follicular cholangitis and pancreatitis", "ORPHA:300557": "Carcinoma of the ampulla of Vater", "ORPHA:300564": "Combined pulmonary fibrosis-emphysema syndrome", "ORPHA:300570": "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation", "ORPHA:300573": "Polymicrogyria due to TUBB2B mutation", "ORPHA:300576": "Oligodontia-cancer predisposition syndrome", "ORPHA:300579": "Staphylococcal toxemia", "ORPHA:300496": "Multiple congenital anomalies-hypotonia-seizures syndrome type 2", "ORPHA:300501": "Painful orbital and systemic neurofibromas-marfanoid habitus syndrome", "ORPHA:300504": "Onychocytic matricoma", "ORPHA:300512": "Onychomatricoma", "ORPHA:300515": "Rare nail tumor", "ORPHA:300525": "Pseudohypoaldosteronism type 2D", "ORPHA:300530": "Pseudohypoaldosteronism type 2E", "ORPHA:300536": "DDOST-CDG", "ORPHA:300849": "Diffuse large B-cell lymphoma of the central nervous system", "ORPHA:300846": "Aggressive B-cell non-Hodgkin lymphoma", "ORPHA:300865": "Primary cutaneous anaplastic large cell lymphoma", "ORPHA:300857": "T-cell/histiocyte rich large B cell lymphoma", "ORPHA:300878": "Hairy cell leukemia variant", "ORPHA:300869": "Splenic diffuse red pulp small B-cell lymphoma", "ORPHA:300895": "ALK-positive anaplastic large cell lymphoma", "ORPHA:300888": "Diffuse large B-cell lymphoma with chronic inflammation", "ORPHA:300605": "Juvenile amyotrophic lateral sclerosis", "ORPHA:300755": "Laminopathy with striated muscle involvement", "ORPHA:300751": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "ORPHA:300763": "Laminopathy with lipodystrophy", "ORPHA:300758": "Laminopathy with peripheral neuropathy", "ORPHA:300842": "Indolent B-cell non-Hodgkin lymphoma", "ORPHA:300766": "Laminopathy with premature aging", "ORPHA:300903": "ALK-negative anaplastic large cell lymphoma", "ORPHA:300912": "Marginal zone lymphoma", "ORPHA:304055": "Pituitary tumor", "ORPHA:306436": "OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance", "ORPHA:306431": "Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies", "ORPHA:306462": "OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance", "ORPHA:306446": "OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance", "ORPHA:306550": "FADD-related immunodeficiency", "ORPHA:306553": "Myospherulosis", "ORPHA:306542": "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome", "ORPHA:306547": "Porencephaly-microcephaly-bilateral congenital cataract syndrome", "ORPHA:306530": "Congenital hereditary facial paralysis-variable hearing loss syndrome", "ORPHA:306539": "OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary", "ORPHA:306522": "OBSOLETE: Genetic primary hypomagnesemia with normocalciuria", "ORPHA:306527": "Isolated hereditary congenital facial paralysis", "ORPHA:306516": "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis", "ORPHA:306519": "OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria", "ORPHA:306507": "LAMB2-related infantile-onset nephrotic syndrome", "ORPHA:306511": "Autosomal recessive spastic paraplegia type 48", "ORPHA:306498": "PTEN hamartoma tumor syndrome", "ORPHA:306504": "Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome", "ORPHA:306474": "OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance", "ORPHA:306486": "OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance", "ORPHA:306666": "Rare parkinsonian syndrome due to neurodegenerative disease", "ORPHA:306661": "Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome", "ORPHA:306658": "Familial normophosphatemic tumoral calcinosis", "ORPHA:306648": "Non-infectious anterior uveitis", "ORPHA:306644": "Complication after organ transplantation", "ORPHA:306640": "Rare intoxication due to medical products", "ORPHA:306636": "Rare tumor of liver and intrahepatic biliary tract", "ORPHA:306633": "Rare tumor of gallbladder and extrahepatic biliary tract", "ORPHA:306617": "X-linked complicated spastic paraplegia type 1", "ORPHA:306597": "OBSOLETE: X-linked Opitz G/BBB syndrome", "ORPHA:306588": "OBSOLETE: Autosomal dominant Opitz G/BBB syndrome", "ORPHA:306577": "Hereditary sodium channelopathy-related small fibers neuropathy", "ORPHA:306561": "OBSOLETE: Autosomal dominant childhood-onset cortical cataract", "ORPHA:306558": "Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome", "ORPHA:295091": "OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral", "ORPHA:295089": "OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral", "ORPHA:295095": "OBSOLETE: Congenital absence of both forearm and hand, bilateral", "ORPHA:295093": "OBSOLETE: Congenital absence of both forearm and hand, unilateral", "ORPHA:295099": "OBSOLETE: Congenital absence of both lower leg and foot, bilateral", "ORPHA:295097": "OBSOLETE: Congenital absence of both lower leg and foot, unilateral", "ORPHA:295103": "OBSOLETE: Acheiria, bilateral", "ORPHA:295101": "OBSOLETE: Acheiria, unilateral", "ORPHA:295107": "OBSOLETE: Apodia, bilateral", "ORPHA:295105": "OBSOLETE: Apodia, unilateral", "ORPHA:295112": "OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral", "ORPHA:295110": "OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral", "ORPHA:295116": "OBSOLETE: Adactyly of foot, unilateral", "ORPHA:295114": "OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral", "ORPHA:295120": "OBSOLETE: Split hand, unilateral", "ORPHA:295118": "OBSOLETE: Adactyly of foot, bilateral", "ORPHA:295122": "OBSOLETE: Split hand, bilateral", "ORPHA:295124": "OBSOLETE: Split foot, unilateral", "ORPHA:295126": "OBSOLETE: Split foot, bilateral", "ORPHA:295128": "OBSOLETE: Brachydactyly of fingers, unilateral", "ORPHA:295130": "OBSOLETE: Brachydactyly of fingers, bilateral", "ORPHA:295132": "OBSOLETE: Brachydactyly of toes, unilateral", "ORPHA:295134": "OBSOLETE: Brachydactyly of toes, bilateral", "ORPHA:295136": "OBSOLETE: Symbrachydactyly of hand and foot, unilateral", "ORPHA:295138": "OBSOLETE: Symbrachydactyly of hand and foot, bilateral", "ORPHA:295140": "OBSOLETE: Hyperphalangy, unilateral", "ORPHA:295142": "OBSOLETE: Hyperphalangy, bilateral", "ORPHA:295144": "OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral", "ORPHA:295146": "OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral", "ORPHA:295148": "OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral", "ORPHA:295150": "OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral", "ORPHA:295152": "OBSOLETE: Polydactyly of an index finger, unilateral", "ORPHA:295163": "OBSOLETE: Postaxial polydactyly type A, unilateral", "ORPHA:295161": "OBSOLETE: Polysyndactyly, bilateral", "ORPHA:295159": "OBSOLETE: Polysyndactyly, unilateral", "ORPHA:295154": "OBSOLETE: Polydactyly of an index finger, bilateral", "ORPHA:295171": "OBSOLETE: Central polydactyly of fingers, unilateral", "ORPHA:295169": "OBSOLETE: Postaxial polydactyly type B, bilateral", "ORPHA:295167": "OBSOLETE: Postaxial polydactyly type B, unilateral", "ORPHA:295165": "OBSOLETE: Postaxial polydactyly type A, bilateral", "ORPHA:295179": "OBSOLETE: Postaxial polydactyly of toes, unilateral", "ORPHA:295177": "OBSOLETE: Preaxial polydactyly of toes, bilateral", "ORPHA:295175": "OBSOLETE: Preaxial polydactyly of toes, unilateral", "ORPHA:295173": "OBSOLETE: Central polydactyly of fingers, bilateral", "ORPHA:295187": "Zygodactyly type 1", "ORPHA:295185": "OBSOLETE: Central polydactyly of toes, bilateral", "ORPHA:295183": "OBSOLETE: Central polydactyly of toes, unilateral", "ORPHA:295181": "OBSOLETE: Postaxial polydactyly of toes, bilateral", "ORPHA:295193": "Zygodactyly type 4", "ORPHA:295195": "Synpolydactyly type 1", "ORPHA:295189": "Zygodactyly type 2", "ORPHA:295191": "Zygodactyly type 3", "ORPHA:295201": "Congenital vertical talus, unilateral", "ORPHA:295203": "Congenital vertical talus, bilateral", "ORPHA:295197": "Synpolydactyly type 2", "ORPHA:295199": "Synpolydactyly type 3", "ORPHA:295209": "OBSOLETE: Humero-radial synostosis, unilateral", "ORPHA:295211": "OBSOLETE: Humero-radial synostosis, bilateral", "ORPHA:295205": "OBSOLETE: Humero-radio-ulnar synostosis, unilateral", "ORPHA:295207": "OBSOLETE: Humero-radio-ulnar synostosis, bilateral", "ORPHA:295217": "OBSOLETE: Radio-ulnar synostosis, unilateral", "ORPHA:295219": "OBSOLETE: Radio-ulnar synostosis, bilateral", "ORPHA:295213": "OBSOLETE: Humero-ulnar synostosis, unilateral", "ORPHA:295215": "OBSOLETE: Humero-ulnar synostosis, bilateral", "ORPHA:295232": "Congenital genu flexum", "ORPHA:295229": "Congenital genu recurvatum", "ORPHA:295237": "OBSOLETE: Congenital patella dislocation, bilateral", "ORPHA:295234": "OBSOLETE: Congenital patella dislocation, unilateral", "ORPHA:295223": "OBSOLETE: Madelung deformity, bilateral", "ORPHA:295221": "OBSOLETE: Madelung deformity, unilateral", "ORPHA:295227": "Congenital elbow dislocation, bilateral", "ORPHA:295225": "Congenital elbow dislocation, unilateral", "ORPHA:295241": "Macrodactyly of fingers, bilateral", "ORPHA:295239": "Macrodactyly of fingers, unilateral", "ORPHA:295245": "Macrodactyly of toes, bilateral", "ORPHA:295243": "Macrodactyly of toes, unilateral", "ORPHA:298644": "Disorder of thiamine metabolism and transport", "ORPHA:300179": "Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency", "ORPHA:300319": "Charcot-Marie-Tooth disease type 2P", "ORPHA:300324": "Persistent polyclonal B-cell lymphocytosis", "ORPHA:300313": "Congenital cataract-hearing loss-severe developmental delay syndrome", "ORPHA:300298": "Severe congenital hypochromic anemia with ringed sideroblasts", "ORPHA:300305": "11p15.4 microduplication syndrome", "ORPHA:300284": "Connective tissue disorder due to lysyl hydroxylase-3 deficiency", "ORPHA:300293": "Transient infantile hypertriglyceridemia and hepatosteatosis", "ORPHA:300385": "Pituitary carcinoma", "ORPHA:300493": "Sagliker syndrome", "ORPHA:300373": "X-linked acrogigantism", "ORPHA:300382": "Progeroid and marfanoid aspect-lipodystrophy syndrome", "ORPHA:300345": "Autosomal systemic lupus erythematosus", "ORPHA:300359": "PLCG2-associated antibody deficiency and immune dysregulation", "ORPHA:300333": "Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome", "ORPHA:300337": "OBSOLETE: Congenital blindness due to retinal non-attachment", "ORPHA:464682": "OBSOLETE: Disorder with acute infantile liver failure", "ORPHA:464724": "Fever-associated acute infantile liver failure syndrome", "ORPHA:464738": "Basel-Vanagaite-Smirin-Yosef syndrome", "ORPHA:464760": "Familial cavitary optic disc anomaly", "ORPHA:464756": "Familial gastric type 1 neuroendocrine tumor", "ORPHA:464764": "Immune-mediated acquired neuromuscular junction disease", "ORPHA:465508": "Symptomatic form of HFE-related hemochromatosis", "ORPHA:464282": "Spastic paraplegia-severe developmental delay-epilepsy syndrome", "ORPHA:464288": "Short stature-brachydactyly-obesity-global developmental delay syndrome", "ORPHA:464306": "DYRK1A-related intellectual disability syndrome", "ORPHA:464293": "NON RARE IN EUROPE: Infantile capillary hemangioma", "ORPHA:464329": "Kaposiform lymphangiomatosis", "ORPHA:464321": "Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome", "ORPHA:464318": "Verrucous hemangioma", "ORPHA:464311": "Intellectual disability syndrome due to a DYRK1A point mutation", "ORPHA:464366": "NEK9-related lethal skeletal dysplasia", "ORPHA:464359": "Benign metanephric tumor", "ORPHA:464343": "Catastrophic antiphospholipid syndrome", "ORPHA:464336": "BENTA disease", "ORPHA:464453": "Acquired methemoglobinemia", "ORPHA:464443": "COG6-CGD", "ORPHA:464440": "Primary dystonia, DYT27 type", "ORPHA:464370": "Neonatal alloimmune neutropenia", "ORPHA:464463": "NON RARE IN EUROPE: Adenocarcinoma of stomach", "ORPHA:464458": "Paracetamol poisoning", "ORPHA:639": "Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG", "ORPHA:662": "Lymphedema with yellow nails", "ORPHA:537": "Toxic epidermal necrolysis", "ORPHA:793": "SAPHO syndrome", "ORPHA:456298": "1p35.2 microdeletion syndrome", "ORPHA:456328": "X-linked myotubular myopathy-abnormal genitalia syndrome", "ORPHA:456333": "Hereditary neuroendocrine tumor of small intestine", "ORPHA:456312": "Infantile multisystem neurologic-endocrine-pancreatic disease", "ORPHA:456318": "Hereditary sensory neuropathy-deafness-dementia syndrome", "ORPHA:454840": "NTHL1-related attenuated familial adenomatous polyposis", "ORPHA:454872": "OBSOLETE: Type 1 interferonopathy with immunodeficiency", "ORPHA:454831": "Acute radiation syndrome", "ORPHA:454836": "Avian influenza", "ORPHA:454887": "Corticobasal syndrome", "ORPHA:454742": "Variably protease-sensitive prionopathy", "ORPHA:454723": "Endometrioid carcinoma of ovary", "ORPHA:454718": "Holmes-Adie syndrome", "ORPHA:454714": "Plasma cell leukemia", "ORPHA:454821": "OBSOLETE: Pleomorphic salivary gland adenoma", "ORPHA:454750": "Isolated tracheoesophageal fistula", "ORPHA:454745": "Kuru", "ORPHA:453533": "Polyendocrine-polyneuropathy syndrome", "ORPHA:453521": "Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency", "ORPHA:454710": "Anti-p200 pemphigoid", "ORPHA:454706": "Progressive muscular atrophy", "ORPHA:454700": "Acquired Creutzfeldt-Jakob disease", "ORPHA:451602": "Primary cutaneous plasmacytosis", "ORPHA:451607": "Cutaneous pseudolymphoma", "ORPHA:451612": "Familial congenital nasolacrimal duct obstruction", "ORPHA:453499": "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome", "ORPHA:453504": "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation", "ORPHA:453510": "Congenital insensitivity to pain with severe intellectual disability", "ORPHA:450322": "Polyclonal hyperviscosity syndrome", "ORPHA:449566": "Eosinophilic angiocentric fibrosis", "ORPHA:449563": "IgG4-related ophthalmic disease", "ORPHA:449291": "Symptomatic form of fragile X syndrome in female carriers", "ORPHA:449400": "IgG4-related aortitis", "ORPHA:449395": "IgG4-related kidney disease", "ORPHA:449432": "IgG4-related submandibular gland disease", "ORPHA:449427": "IgG4-related pachymeningitis", "ORPHA:449280": "Scedosporiosis", "ORPHA:449285": "Snakebite envenomation", "ORPHA:449266": "Pleural empyema", "ORPHA:449262": "NON RARE IN EUROPE: Primary bile acid malabsorption", "ORPHA:448372": "OBSOLETE: X-linked acrogigantism due to Xq26 microduplication", "ORPHA:448426": "Genetic primary orthostatic hypotension", "ORPHA:448348": "OBSOLETE: X-linked acrogigantism due to a point mutation", "ORPHA:448264": "Isolated focal non-epidermolytic palmoplantar keratoderma", "ORPHA:448251": "Progressive autosomal recessive ataxia-deafness syndrome", "ORPHA:448270": "Ectopia cordis", "ORPHA:448267": "Regressive spondylometaphyseal dysplasia", "ORPHA:448010": "CAD-CDG", "ORPHA:447997": "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome", "ORPHA:448242": "Autosomal recessive brachyolmia", "ORPHA:448237": "Zika virus disease", "ORPHA:447977": "Progressive scapulohumeroperoneal distal myopathy", "ORPHA:447974": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome", "ORPHA:447985": "Partial duplication of the short arm of chromosome 19 syndrome", "ORPHA:447980": "19p13.3 microduplication syndrome", "ORPHA:447954": "Combined oxidative phosphorylation defect type 25", "ORPHA:447964": "Autosomal dominant Charcot-Marie-Tooth disease type 2V", "ORPHA:447961": "Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome", "ORPHA:459353": "OBSOLETE: C1 inhibitor deficiency", "ORPHA:459526": "Rare genetic capillary malformation", "ORPHA:459345": "Immunodeficiency due to a complement cascade component deficiency", "ORPHA:459348": "Immunodeficiency due to a complement regulatory deficiency", "ORPHA:459543": "Rare genetic vascular tumor", "ORPHA:459548": "Rare genetic venous malformation", "ORPHA:459530": "OBSOLETE: Genetic primary lymphedema", "ORPHA:459537": "Genetic complex vascular malformation with associated anomalies", "ORPHA:459787": "Lethal multiple congenital anomalies/dysmorphic syndrome", "ORPHA:459690": "NON RARE IN EUROPE: Gender dysphoria", "ORPHA:459696": "NON RARE IN EUROPE: Juvenile idiopathic scoliosis", "ORPHA:458837": "Rare combined vascular malformation", "ORPHA:458833": "Common cystic lymphatic malformation", "ORPHA:458844": "Rare vascular malformation of major vessels", "ORPHA:458841": "OBSOLETE: Primary lymphedema with associated anomalies", "ORPHA:459033": "Ataxia-oculomotor apraxia type 4", "ORPHA:459051": "Spondyloepiphyseal dysplasia, Stanescu type", "ORPHA:459061": "Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome", "ORPHA:459056": "Autosomal recessive spastic paraplegia type 75", "ORPHA:459074": "Corpus callosum agenesis-macrocephaly-hypertelorism syndrome", "ORPHA:459070": "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome", "ORPHA:458713": "NON RARE IN EUROPE: Specific language impairment", "ORPHA:458718": "Idiopathic spontaneous coronary artery dissection", "ORPHA:458758": "Composite hemangioendothelioma", "ORPHA:458763": "Retiform hemangioendothelioma", "ORPHA:458768": "Papillary intralymphatic angioendothelioma", "ORPHA:458775": "Congenital hemangioma", "ORPHA:458785": "Partially involuting congenital hemangioma", "ORPHA:458792": "Mixed cystic lymphatic malformation", "ORPHA:458798": "Spinocerebellar ataxia type 41", "ORPHA:458803": "Spinocerebellar ataxia type 42", "ORPHA:458827": "OBSOLETE: Vascular tumor with associated anomalies", "ORPHA:458830": "Rare capillary malformation with associated anomalies", "ORPHA:457485": "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome", "ORPHA:457265": "Progressive myoclonic epilepsy type 9", "ORPHA:457279": "Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome", "ORPHA:457252": "Squamous cell carcinoma of the oral tongue", "ORPHA:457260": "X-linked intellectual disability-hypotonia-movement disorder syndrome", "ORPHA:457240": "X-linked intellectual disability-short stature-overweight syndrome", "ORPHA:457246": "Clear cell sarcoma of kidney", "ORPHA:457395": "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome", "ORPHA:457406": "Multiple mitochondrial dysfunctions syndrome type 4", "ORPHA:457375": "ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement", "ORPHA:457378": "Complex lethal osteochondrodysplasia", "ORPHA:457359": "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome", "ORPHA:457365": "Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome", "ORPHA:457284": "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome", "ORPHA:457351": "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "ORPHA:457185": "Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome", "ORPHA:457083": "Isolated splenogonadal fusion", "ORPHA:457077": "TAFRO syndrome", "ORPHA:457095": "Actinomycosis", "ORPHA:457088": "Predisposition to invasive fungal disease due to CARD9 deficiency", "ORPHA:457223": "Syndromic sensorineural deafness due to combined oxidative phosphorylation defect", "ORPHA:457212": "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome", "ORPHA:457193": "KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome", "ORPHA:457205": "Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome", "ORPHA:456369": "Polyglucosan body myopathy type 2", "ORPHA:457059": "Pseudohypoparathyroidism with Albright hereditary osteodystrophy", "ORPHA:457062": "Pseudohypoparathyroidism without Albright hereditary osteodystrophy", "ORPHA:457074": "Congenital nemaline myopathy", "ORPHA:457050": "Autosomal dominant mitochondrial myopathy with exercise intolerance", "ORPHA:651": "NON RARE IN EUROPE: Idiopathic infantile nystagmus", "ORPHA:317": "Erythrokeratodermia variabilis", "ORPHA:103": "OBSOLETE: Genetic optic atrophy", "ORPHA:629": "Short stature due to growth hormone qualitative anomaly", "ORPHA:632": "Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia", "ORPHA:248": "Autosomal recessive hypohidrotic ectodermal dysplasia", "ORPHA:1810": "Autosomal dominant hypohidrotic ectodermal dysplasia", "ORPHA:3437": "Vogt-Koyanagi-Harada disease", "ORPHA:2032": "Idiopathic pulmonary fibrosis", "ORPHA:1303": "Bronchiolitis obliterans", "ORPHA:3348": "Tracheobronchopathia osteochondroplastica", "ORPHA:2902": "Idiopathic chronic eosinophilic pneumonia", "ORPHA:1302": "Cryptogenic organizing pneumonia", "ORPHA:198": "Occipital horn syndrome", "ORPHA:891": "Familial exudative vitreoretinopathy", "ORPHA:225": "NON RARE IN EUROPE: Maternally-inherited diabetes and deafness", "ORPHA:466677": "Scorpion envenomation", "ORPHA:466682": "Euthyroid Graves orbitopathy", "ORPHA:466688": "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome", "ORPHA:466695": "Supratip dysplasia", "ORPHA:466658": "Rare disease with malignant hyperthermia", "ORPHA:466667": "NON RARE IN EUROPE: Colorectal cancer", "ORPHA:466670": "Cyanide poisoning", "ORPHA:466673": "NON RARE IN EUROPE: Post-herpetic neuralgia", "ORPHA:466650": "Exercise-induced malignant hyperthermia", "ORPHA:466962": "SMARCA4-deficient sarcoma of thorax", "ORPHA:466950": "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation", "ORPHA:466943": "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome", "ORPHA:466926": "Seizures-scoliosis-macrocephaly syndrome", "ORPHA:466934": "VPS11-related autosomal recessive hypomyelinating leukodystrophy", "ORPHA:466921": "Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome", "ORPHA:466806": "Autosomal dominant thrombocytopenia with platelet secretion defect", "ORPHA:466801": "OBSOLETE: LIMS2-related myopathy", "ORPHA:466794": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome", "ORPHA:466791": "Macrocephaly-intellectual disability-left ventricular non compaction syndrome", "ORPHA:466784": "Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect", "ORPHA:466775": "Autosomal recessive Charcot-Marie-Tooth disease type 2X", "ORPHA:466768": "Autosomal dominant Charcot-Marie-Tooth disease type 2Z", "ORPHA:466732": "OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome", "ORPHA:466729": "Familial patent arterial duct", "ORPHA:466722": "Autosomal recessive spastic paraplegia type 77", "ORPHA:466718": "Martinique crinkled retinal pigment epitheliopathy", "ORPHA:466703": "TMEM199-CDG", "ORPHA:465824": "Fetal encasement syndrome", "ORPHA:466084": "Genetic otorhinolaryngologic disease", "ORPHA:466066": "Genetic hemoglobinopathy", "ORPHA:466026": "Class I glucose-6-phosphate dehydrogenase deficiency", "ORPHA:468620": "Intellectual disability-epilepsy-extrapyramidal syndrome", "ORPHA:468631": "Microcephalic cortical malformations-short stature due to RTTN deficiency", "ORPHA:467166": "Tubulinopathy-associated dysgyria", "ORPHA:467176": "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome", "ORPHA:468635": "Cryptogenic multifocal ulcerous stenosing enteritis", "ORPHA:468641": "Chronic enteropathy associated with SLCO2A1 gene", "ORPHA:468661": "Autosomal recessive spastic paraplegia type 74", "ORPHA:468666": "Isolated generalized anhidrosis with normal sweat glands", "ORPHA:468678": "White-Sutton syndrome", "ORPHA:468684": "CCDC115-CDG", "ORPHA:468672": "Colobomatous macrophthalmia-microcornea syndrome", "ORPHA:468726": "Severe primary trimethylaminuria", "ORPHA:468699": "SLC39A8-CDG", "ORPHA:468717": "Rhizomelic chondrodysplasia punctata type 5", "ORPHA:401785": "Autosomal recessive spastic paraplegia type 62", "ORPHA:401780": "Autosomal recessive spastic paraplegia type 61", "ORPHA:401800": "Autosomal recessive spastic paraplegia type 60", "ORPHA:401795": "Autosomal recessive spastic paraplegia type 59", "ORPHA:401768": "Proximal myopathy with extrapyramidal signs", "ORPHA:401764": "Pancytopenia-developmental delay syndrome", "ORPHA:401777": "Optic atrophy-intellectual disability syndrome", "ORPHA:401825": "Autosomal recessive spastic paraplegia type 68", "ORPHA:401830": "Autosomal recessive spastic paraplegia type 69", "ORPHA:401835": "Autosomal recessive spastic paraplegia type 70", "ORPHA:401840": "Autosomal recessive spastic paraplegia type 71", "ORPHA:401805": "Autosomal recessive spastic paraplegia type 63", "ORPHA:401810": "Autosomal recessive spastic paraplegia type 64", "ORPHA:401815": "Autosomal recessive spastic paraplegia type 66", "ORPHA:401820": "Autosomal recessive spastic paraplegia type 67", "ORPHA:401866": "Childhood-onset spasticity with hyperglycinemia", "ORPHA:401869": "Multiple mitochondrial dysfunctions syndrome type 1", "ORPHA:401874": "Multiple mitochondrial dysfunctions syndrome type 2", "ORPHA:401849": "Autosomal spastic paraplegia type 72", "ORPHA:401854": "Lipoic acid biosynthesis defect", "ORPHA:401859": "Lipoic acid synthetase deficiency", "ORPHA:401862": "Lipoyl transferase 1 deficiency", "ORPHA:400008": "Rare genetic female infertility", "ORPHA:400003": "Rare genetic disorder with obstructive azoospermia", "ORPHA:399998": "Male infertility due to obstructive azoospermia of genetic origin", "ORPHA:399994": "Rare male infertility due to adrenal disorder of genetic origin", "ORPHA:399983": "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin", "ORPHA:399980": "Rare genetic male infertility", "ORPHA:399882": "Rare female infertility due to an implantation defect", "ORPHA:399877": "Rare female infertility due to gonadal dysgenesis", "ORPHA:400025": "Female infertility due to an implantation defect of genetic origin", "ORPHA:400022": "Rare female infertility due to an anomaly of ovarian function of genetic origin", "ORPHA:400018": "Rare female infertility due to adrenal disorder of genetic origin", "ORPHA:400011": "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin", "ORPHA:402823": "Hepatitis delta", "ORPHA:401920": "Fibrolamellar hepatocellular carcinoma", "ORPHA:401911": "AXIN2-related attenuated familial adenomatous polyposis", "ORPHA:401901": "Huntington disease-like syndrome due to C9ORF72 expansions", "ORPHA:401942": "Familial median cleft of the upper and lower lips", "ORPHA:401935": "14q24.1q24.3 microdeletion syndrome", "ORPHA:401923": "9q31.1q31.3 microdeletion syndrome", "ORPHA:401959": "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome", "ORPHA:401953": "Episodic ataxia with slurred speech", "ORPHA:401948": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", "ORPHA:401945": "Moyamoya disease with early-onset achalasia", "ORPHA:401986": "1p31p32 microdeletion syndrome", "ORPHA:401979": "Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type", "ORPHA:401973": "MEND syndrome", "ORPHA:401964": "Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons", "ORPHA:402003": "Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering", "ORPHA:402007": "Lichen myxedematosus", "ORPHA:401993": "Cold-induced sweating syndrome-hyperthermia spectrum", "ORPHA:401996": "Karyomegalic interstitial nephritis", "ORPHA:402017": "Acute myeloid leukemia with t(9;11)(p22;q23)", "ORPHA:402020": "Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)", "ORPHA:402014": "Acute myeloid leukemia with t(6;9)(p23;q34)", "ORPHA:402029": "Primary eosinophilic gastrointestinal disease", "ORPHA:402035": "Eosinophilic colitis", "ORPHA:402023": "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)", "ORPHA:402026": "Acute myeloid leukemia with NPM1 somatic mutations", "ORPHA:402082": "Progressive myoclonic epilepsy type 5", "ORPHA:402364": "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly", "ORPHA:402041": "Autosomal recessive distal renal tubular acidosis", "ORPHA:402075": "Familial bicuspid aortic valve", "ORPHA:806": "Scott syndrome", "ORPHA:404580": "Polyarticular juvenile idiopathic arthritis", "ORPHA:404584": "Rare genetic bone development disorder", "ORPHA:404469": "Rare female infertility due to oocyte maturation defect", "ORPHA:404473": "Severe intellectual disability-progressive spastic diplegia syndrome", "ORPHA:404463": "Multisystemic smooth muscle dysfunction syndrome", "ORPHA:404466": "Female infertility due to zona pellucida defect", "ORPHA:404451": "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome", "ORPHA:404454": "Alacrimia-choreoathetosis-liver dysfunction syndrome", "ORPHA:404443": "Tatton-Brown-Rahman syndrome", "ORPHA:404448": "ADNP syndrome", "ORPHA:404437": "Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome", "ORPHA:404440": "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency", "ORPHA:404577": "Genetic syndrome with limb malformations as a major feature", "ORPHA:404574": "Genetic syndrome with limb reduction defects", "ORPHA:404571": "Dysostosis of genetic origin with limb anomaly as a major feature", "ORPHA:404568": "Dysostosis of genetic origin", "ORPHA:404560": "Familial atypical multiple mole melanoma syndrome", "ORPHA:404553": "Adenosine deaminase 2 deficiency", "ORPHA:404546": "DITRA", "ORPHA:404538": "X-linked distal hereditary motor neuropathy", "ORPHA:404521": "Spinal muscular atrophy with respiratory distress type 2", "ORPHA:404514": "Acquired cystic disease-associated renal cell carcinoma", "ORPHA:404511": "Clear cell papillary renal cell carcinoma", "ORPHA:404507": "Chondromyxoid fibroma", "ORPHA:404499": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency", "ORPHA:404493": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency", "ORPHA:404481": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome", "ORPHA:404476": "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome", "ORPHA:411527": "Central retinal vein occlusion", "ORPHA:411533": "NON RARE IN EUROPE: Melanoma", "ORPHA:411536": "Mild phosphoribosylpyrophosphate synthetase superactivity", "ORPHA:411543": "Severe phosphoribosylpyrophosphate synthetase superactivity", "ORPHA:411590": "Wolfram-like syndrome", "ORPHA:411593": "Insulin autoimmune syndrome", "ORPHA:411602": "Hereditary late-onset Parkinson disease", "ORPHA:411629": "Infantile nephropathic cystinosis", "ORPHA:411493": "Pontocerebellar hypoplasia type 10", "ORPHA:411501": "Williams-Campbell syndrome", "ORPHA:411511": "Angelman syndrome due to a point mutation", "ORPHA:411515": "Angelman syndrome due to imprinting defect in 15q11-q13", "ORPHA:411777": "Generalized eruptive keratoacanthoma", "ORPHA:411712": "Maternal riboflavin deficiency", "ORPHA:411788": "Familial isolated trichomegaly", "ORPHA:411986": "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome", "ORPHA:411969": "NON RARE IN EUROPE: Metabolic syndrome", "ORPHA:412035": "13q12.3 microdeletion syndrome", "ORPHA:412022": "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome", "ORPHA:411641": "Ocular cystinosis", "ORPHA:411634": "Juvenile nephropathic cystinosis", "ORPHA:411696": "Proton-pump inhibitor-responsive esophageal eosinophilia", "ORPHA:411709": "Renal agenesis", "ORPHA:411703": "Pulmonary non-tuberculous mycobacterial infection", "ORPHA:376724": "Generalized isolated dystonia", "ORPHA:371445": "Genetic syndromic esophageal malformation", "ORPHA:371861": "Genetic hyperaldosteronism", "ORPHA:371235": "Congenital disorder of glycosylation with developmental anomaly", "ORPHA:371207": "Congenital disorder of glycosylation with nephropathy as a major feature", "ORPHA:371200": "Congenital disorder of glycosylation with skin involvement", "ORPHA:371212": "Congenital disorder of glycosylation with deafness as a major feature", "ORPHA:371436": "Genetic neurovascular malformation", "ORPHA:371433": "Genetic periodic paralysis", "ORPHA:371442": "Sphingolipidosis with epilepsy", "ORPHA:371439": "OBSOLETE: Genetic cerebrovascular dementia", "ORPHA:371428": "Multicentric osteolysis-nodulosis-arthropathy spectrum", "ORPHA:371364": "Hypotonia-speech impairment-severe cognitive delay syndrome", "ORPHA:391711": "Persistent combined dystonia", "ORPHA:391673": "Necrotizing enterocolitis", "ORPHA:391677": "Short stature-optic atrophy-Pelger-Huët anomaly syndrome", "ORPHA:391723": "Mucinous adenocarcinoma of the appendix", "ORPHA:391799": "Rare genetic dystonia", "ORPHA:391479": "OBSOLETE: Syndromic frontonasal dysplasia", "ORPHA:391474": "Frontorhiny", "ORPHA:391504": "Transient neonatal myasthenia gravis", "ORPHA:391497": "Juvenile myasthenia gravis", "ORPHA:391490": "Adult-onset myasthenia gravis", "ORPHA:391487": "STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome", "ORPHA:391646": "Feingold syndrome type 2", "ORPHA:391641": "Feingold syndrome type 1", "ORPHA:391665": "Homozygous familial hypercholesterolemia", "ORPHA:391658": "OBSOLETE: Cowpox infection", "ORPHA:391655": "Off-periods in Parkinson disease not responding to oral treatment", "ORPHA:391651": "Glomus tumor", "ORPHA:391343": "Fatal post-viral neurodegenerative disorder", "ORPHA:391348": "Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome", "ORPHA:391351": "SURF1-related Charcot-Marie-Tooth disease type 4", "ORPHA:391366": "Growth retardation-mild developmental delay-chronic hepatitis syndrome", "ORPHA:391372": "FOXP1 Syndrome", "ORPHA:391376": "Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome", "ORPHA:391381": "Disorder of asparagine metabolism", "ORPHA:391384": "Familial episodic pain syndrome", "ORPHA:391389": "Familial episodic pain syndrome with predominantly upper body involvement", "ORPHA:391392": "Familial episodic pain syndrome with predominantly lower limb involvement", "ORPHA:391397": "Hereditary sensory and autonomic neuropathy type 7", "ORPHA:391408": "Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome", "ORPHA:391411": "Atypical juvenile parkinsonism", "ORPHA:391417": "HSD10 disease", "ORPHA:391428": "HSD10 disease, infantile type", "ORPHA:391457": "HSD10 disease, neonatal type", "ORPHA:391307": "Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome", "ORPHA:391316": "Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression", "ORPHA:391311": "Susceptibility to viral and mycobacterial infections due to STAT1 deficiency", "ORPHA:391327": "X-linked calvarial hyperostosis", "ORPHA:391320": "East Texas bleeding disorder", "ORPHA:391330": "X-linked osteoporosis with fractures", "ORPHA:398063": "Refractory celiac disease", "ORPHA:398058": "Squamous cell carcinoma of the penis", "ORPHA:398053": "Adenocarcinoma of the penis", "ORPHA:398043": "Malignant tumor of penis", "ORPHA:397973": "Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome", "ORPHA:397968": "Charcot-Marie-Tooth disease type 2R", "ORPHA:397964": "Combined immunodeficiency due to MALT1 deficiency", "ORPHA:397959": "TCR-alpha-beta-positive T-cell deficiency", "ORPHA:397951": "Microcephaly-thin corpus callosum-intellectual disability syndrome", "ORPHA:397946": "Autosomal spastic paraplegia type 58", "ORPHA:397941": "MAN1B1-CDG", "ORPHA:397937": "Polyglucosan body myopathy type 1", "ORPHA:397933": "Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome", "ORPHA:397927": "Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome", "ORPHA:397922": "Ferro-cerebro-cutaneous syndrome", "ORPHA:397787": "Combined immunodeficiency due to IKK2 deficiency", "ORPHA:397802": "T+ B+ severe combined immunodeficiency", "ORPHA:397755": "Periodic paralysis with transient compartment-like syndrome", "ORPHA:397758": "Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies", "ORPHA:397744": "Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "ORPHA:397750": "Periodic paralysis with later-onset distal motor neuropathy", "ORPHA:397725": "COASY protein-associated neurodegeneration", "ORPHA:397735": "Autosomal dominant Charcot-Marie-Tooth disease type 2U", "ORPHA:397709": "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome", "ORPHA:397715": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy", "ORPHA:397692": "Hereditary isolated aplastic anemia", "ORPHA:397695": "3q27.3 microdeletion syndrome", "ORPHA:397623": "Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome", "ORPHA:397685": "Familial hyperprolactinemia", "ORPHA:397615": "Obesity due to CEP19 deficiency", "ORPHA:397618": "Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome", "ORPHA:397596": "Activated PI3K-delta syndrome", "ORPHA:397593": "Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency", "ORPHA:397612": "Macrocephaly-developmental delay syndrome", "ORPHA:397606": "PrP systemic amyloidosis", "ORPHA:397590": "Silver-Russell syndrome due to a point mutation", "ORPHA:397587": "Deep dermatophytosis", "ORPHA:394532": "Multiple acyl-CoA dehydrogenase deficiency, mild type", "ORPHA:394529": "Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type", "ORPHA:399839": "Rare female infertility due to a congenital hypogonadotropic hypogonadism", "ORPHA:399831": "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder", "ORPHA:399824": "Rare disorder with obstructive azoospermia", "ORPHA:399813": "Male infertility due to sperm motility disorder", "ORPHA:399853": "Rare female infertility due to an anomaly of ovarian function", "ORPHA:399849": "Rare female infertility due to an adrenal disorder", "ORPHA:399846": "Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism", "ORPHA:399771": "Male infertility due to sperm disorder", "ORPHA:399764": "Male infertility due to gonadal dysgenesis or sperm disorder", "ORPHA:399685": "Rare male infertility due to testicular endocrine disorder", "ORPHA:399584": "Rare male infertility due to adrenal disorder", "ORPHA:399808": "Male infertility with teratozoospermia due to single gene mutation", "ORPHA:399805": "Male infertility with azoospermia or oligozoospermia due to single gene mutation", "ORPHA:399786": "Male infertility with spermatogenesis disorder due to single gene mutation", "ORPHA:399775": "Male infertility with spermatogenesis disorder", "ORPHA:399329": "Epiphysiolysis of the hip", "ORPHA:399391": "Osteochondrosis of genetic origin", "ORPHA:399572": "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder", "ORPHA:399380": "Osteonecrosis of genetic origin", "ORPHA:399388": "Avascular necrosis of genetic origin", "ORPHA:399180": "Secondary non-traumatic avascular necrosis", "ORPHA:399185": "Rare hereditary disease with avascular necrosis", "ORPHA:399169": "Secondary avascular necrosis", "ORPHA:399175": "Traumatic avascular necrosis", "ORPHA:399307": "Idiopathic avascular necrosis", "ORPHA:399319": "Osteochondrosis", "ORPHA:399293": "Osteonecrosis of the jaw", "ORPHA:399302": "Primary avascular necrosis", "ORPHA:399058": "Alpha-B crystallin-related late-onset myopathy", "ORPHA:398987": "Malignant teratoma of ovary", "ORPHA:399086": "Finnish upper limb-onset distal myopathy", "ORPHA:399081": "KLHL9-related early-onset distal myopathy", "ORPHA:399103": "Distal nebulin myopathy", "ORPHA:399096": "Distal anoctaminopathy", "ORPHA:399164": "Avascular necrosis", "ORPHA:399158": "Osteonecrosis", "ORPHA:398934": "Malignant epithelial tumor of ovary", "ORPHA:398961": "Mucinous adenocarcinoma of ovary", "ORPHA:398940": "Malignant non-epithelial tumor of ovary", "ORPHA:398980": "OBSOLETE: Primary peritoneal serous/papillary carcinoma", "ORPHA:398971": "Clear cell adenocarcinoma of the ovary", "ORPHA:398124": "Neonatal lupus erythematosus", "ORPHA:398127": "Neonatal scleroderma", "ORPHA:398147": "Persistent idiopathic facial pain", "ORPHA:398156": "Oculoauriculofrontonasal syndrome", "ORPHA:398166": "Focal facial dermal dysplasia", "ORPHA:398173": "Focal facial dermal dysplasia type II", "ORPHA:398189": "Focal facial dermal dysplasia type IV", "ORPHA:398069": "Schaaf-Yang syndrome", "ORPHA:398073": "Prader-Willi-like syndrome", "ORPHA:398079": "SIM1-related Prader-Willi-like syndrome", "ORPHA:398088": "Hereditary cryohydrocytosis with normal stomatin", "ORPHA:398091": "Secondary neonatal autoimmune disease", "ORPHA:398097": "Neonatal antiphospholipid syndrome", "ORPHA:398109": "Neonatal autoimmune hemolytic anemia", "ORPHA:398117": "Neonatal dermatomyositis", "ORPHA:435564": "Genetic precocious puberty in female", "ORPHA:435561": "Rare precocious puberty in female", "ORPHA:435554": "Genetic precocious puberty", "ORPHA:435609": "Genetic larynx anomaly", "ORPHA:435606": "Genetic nose and cavum anomaly", "ORPHA:435603": "Genetic otorhinolaryngological malformation", "ORPHA:435628": "Keppen-Lubinsky syndrome", "ORPHA:435623": "OBSOLETE: Adactyly of foot", "ORPHA:435612": "Genetic tracheal anomaly", "ORPHA:435743": "Congenital urachal anomaly", "ORPHA:435660": "LIPE-related familial partial lipodystrophy", "ORPHA:435651": "CIDEC-related familial partial lipodystrophy", "ORPHA:435638": "3p25.3 microdeletion syndrome", "ORPHA:435804": "Short stature-advanced bone age-early-onset osteoarthritis syndrome", "ORPHA:435808": "OBSOLETE: ACAN-related skeletal dysplasia", "ORPHA:435845": "Lethal neonatal spasticity-epileptic encephalopathy syndrome", "ORPHA:435930": "Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome", "ORPHA:435819": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation", "ORPHA:435953": "Progeroid features-hepatocellular carcinoma predisposition syndrome", "ORPHA:435988": "Chronic atrial and intestinal dysrhythmia syndrome", "ORPHA:435934": "COG2-CDG", "ORPHA:435938": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome", "ORPHA:436141": "HIDEA syndrome", "ORPHA:436144": "Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome", "ORPHA:435998": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type D", "ORPHA:436003": "Contractures-developmental delay-Pierre Robin syndrome", "ORPHA:436159": "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency", "ORPHA:436151": "OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome", "ORPHA:436169": "Thrombomodulin-related bleeding disorder", "ORPHA:436166": "Periodic fever-infantile enterocolitis-autoinflammatory syndrome", "ORPHA:436182": "Microcephalic primordial dwarfism-insulin resistance syndrome", "ORPHA:436174": "Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome", "ORPHA:436245": "Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome", "ORPHA:436242": "Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease", "ORPHA:436271": "Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy", "ORPHA:436252": "Combined immunodeficiency-enteropathy spectrum", "ORPHA:436274": "Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa", "ORPHA:437552": "Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity", "ORPHA:437572": "OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy", "ORPHA:438178": "Fatty acyl-CoA reductase 1 deficiency", "ORPHA:438159": "STAT3-related early-onset multisystem autoimmune disease", "ORPHA:438134": "PCNA-related progressive neurodegenerative photosensitivity syndrome", "ORPHA:438117": "Steel syndrome", "ORPHA:438114": "RARS-related autosomal recessive hypomyelinating leukodystrophy", "ORPHA:438075": "Ketoacidosis due to monocarboxylate transporter-1 deficiency", "ORPHA:438072": "Disorder of keton body transport", "ORPHA:438279": "Human infection by orthopoxvirus", "ORPHA:438274": "GCGR-related hyperglucagonemia", "ORPHA:438266": "Progressive encephalomyelitis with rigidity and myoclonus", "ORPHA:438216": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation", "ORPHA:438213": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome", "ORPHA:438207": "Severe autosomal recessive macrothrombocytopenia", "ORPHA:439224": "ALECT2 amyloidosis", "ORPHA:439232": "AApoAIV amyloidosis", "ORPHA:439212": "Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome", "ORPHA:439218": "KCNQ2-related epileptic encephalopathy", "ORPHA:439196": "Zinc-responsive necrolytic acral erythema", "ORPHA:439202": "Non-recovering obstetric brachial plexus lesion", "ORPHA:439167": "Placental insufficiency", "ORPHA:439175": "Pediatric arterial ischemic stroke", "ORPHA:439762": "Systemic polyarteritis nodosa", "ORPHA:439822": "PDE4D haploinsufficiency syndrome", "ORPHA:439746": "Secondary polyarteritis nodosa", "ORPHA:439755": "Single-organ polyarteritis nodosa", "ORPHA:439729": "Cutaneous polyarteritis nodosa", "ORPHA:439737": "Primary polyarteritis nodosa", "ORPHA:439246": "ABeta2M amyloidosis", "ORPHA:439254": "ITM2B amyloidosis", "ORPHA:440221": "Congenital oculomotor nerve palsy", "ORPHA:440233": "Congenital abducens nerve palsy", "ORPHA:439854": "Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease", "ORPHA:439849": "Autosomal recessive severe congenital neutropenia", "ORPHA:439897": "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome", "ORPHA:439881": "Plastic bronchitis", "ORPHA:440402": "Interstitial lung disease due to ABCA3 deficiency", "ORPHA:440354": "Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome", "ORPHA:440392": "Interstitial lung disease due to SP-C deficiency", "ORPHA:440368": "Necrotizing soft tissue infection", "ORPHA:440713": "Isolated sedoheptulokinase deficiency", "ORPHA:440724": "Extensive peripapillary myelinated nerve fibers", "ORPHA:440727": "Combined hamartoma of the retina and retinal pigment epithelium", "ORPHA:440731": "L-ferritin deficiency", "ORPHA:440427": "Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency", "ORPHA:440437": "Familial colorectal cancer Type X", "ORPHA:440701": "Disorders of pentose/polyol metabolism", "ORPHA:440706": "Ribose-5-P isomerase deficiency", "ORPHA:441434": "Syndromic hereditary optic neuropathy", "ORPHA:441447": "Early-onset posterior subcapsular cataract", "ORPHA:441452": "Early-onset lamellar cataract", "ORPHA:440987": "Isolated agenesis of gallbladder", "ORPHA:441344": "OBSOLETE: Autosomal recessive optic atrophy, OPA9 type", "ORPHA:443057": "Sporadic porphyria cutanea tarda", "ORPHA:443062": "Familial porphyria cutanea tarda", "ORPHA:443079": "Central serous chorioretinopathy", "ORPHA:443084": "Baroreflex failure", "ORPHA:443070": "Hemicrania continua", "ORPHA:443073": "Charcot-Marie-Tooth disease type 2S", "ORPHA:442835": "Non-specific early-onset epileptic encephalopathy", "ORPHA:442582": "AH amyloidosis", "ORPHA:3276": "Disorder of plasmalogens biosynthesis", "ORPHA:443197": "X-linked erythropoietic protoporphyria", "ORPHA:3008": "Pyruvate carboxylase deficiency", "ORPHA:443192": "Classic stiff person syndrome", "ORPHA:595": "Centronuclear myopathy", "ORPHA:443180": "Spontaneous intracranial hypotension", "ORPHA:413": "NON RARE IN EUROPE: Hyperlipoproteinemia type 4", "ORPHA:443173": "Postpartum psychosis", "ORPHA:426": "NON RARE IN EUROPE: Familial hypobetalipoproteinemia", "ORPHA:443291": "HIV-associated cancer", "ORPHA:298": "Mitochondrial neurogastrointestinal encephalomyopathy", "ORPHA:396": "Chronic hiccup", "ORPHA:443287": "OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor", "ORPHA:443236": "Postural orthostatic tachycardia syndrome due to NET deficiency", "ORPHA:552": "MODY", "ORPHA:854": "Non-malignant and non-cirrhotic portal vein thrombosis", "ORPHA:443227": "Paratyphoid fever", "ORPHA:443098": "Hyperostosis cranialis interna", "ORPHA:443095": "Hyperinsulinemic hypoglycaemia", "ORPHA:443090": "46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect", "ORPHA:443087": "46,XY difference of sex development due to testicular 17,20-desmolase deficiency", "ORPHA:443167": "NUT midline carcinoma", "ORPHA:130": "Brugada syndrome", "ORPHA:277": "Severe combined immunodeficiency due to adenosine deaminase deficiency", "ORPHA:443162": "NDE1-related microhydranencephaly", "ORPHA:443159": "Lymphoplasmacytic lymphoma without IgM production", "ORPHA:443101": "Hypothalamic adipsic hypernatraemia syndrome", "ORPHA:443325": "OBSOLETE: HIV-related Non-Hodgkin lymphoma", "ORPHA:443328": "OBSOLETE: HIV-related Kaposi sarcoma", "ORPHA:443804": "Focal stiff limb syndrome", "ORPHA:443811": "PGM3-CDG", "ORPHA:443909": "Hereditary nonpolyposis colon cancer", "ORPHA:443950": "DNAJB2-related Charcot-Marie-Tooth disease type 2", "ORPHA:443988": "Ventriculomegaly-cystic kidney disease", "ORPHA:443301": "OBSOLETE: HIV-related lung cancer", "ORPHA:443304": "OBSOLETE: HIV-related oropharyngeal cancer", "ORPHA:443307": "OBSOLETE: HIV-related anal cancer", "ORPHA:443310": "OBSOLETE: HIV-related hepatocellular carcinoma", "ORPHA:443313": "OBSOLETE: HIV-related penile cancer", "ORPHA:443316": "OBSOLETE: HIV-related Hodgkin lymphoma", "ORPHA:443319": "OBSOLETE: HIV-related vulvovaginal cancer", "ORPHA:443322": "OBSOLETE: HIV-related cervical cancer", "ORPHA:444092": "Autoimmune interstitial lung disease-arthritis syndrome", "ORPHA:444099": "Autosomal dominant spastic paraplegia type 73", "ORPHA:444116": "Hereditary amyloidosis", "ORPHA:444138": "Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome", "ORPHA:444002": "11q22.2q22.3 microdeletion syndrome", "ORPHA:443995": "Mandibulofacial dysostosis with alopecia", "ORPHA:444048": "46,XX ovarian dysgenesis-short stature syndrome", "ORPHA:444013": "Combined oxidative phosphorylation defect type 23", "ORPHA:444069": "Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome", "ORPHA:444051": "20q11.2 microdeletion syndrome", "ORPHA:444077": "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome", "ORPHA:444072": "Cerebellar-facial-dental syndrome", "ORPHA:444463": "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency", "ORPHA:444490": "Familial chylomicronemia syndrome", "ORPHA:444316": "Idiopathic phalangeal acro-osteolysis", "ORPHA:444458": "Combined oxidative phosphorylation defect type 24", "ORPHA:445110": "Limb-girdle muscular dystrophy due to POMK deficiency", "ORPHA:445062": "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome", "ORPHA:445038": "3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome", "ORPHA:445018": "Combined immunodeficiency due to LRBA deficiency", "ORPHA:444941": "Caudal regression-sirenomelia spectrum", "ORPHA:444916": "Pseudohypoaldosteronism", "ORPHA:447731": "NIK deficiency", "ORPHA:447737": "Combined immunodeficiency due to DOCK2 deficiency", "ORPHA:447740": "Aggressive periodontitis", "ORPHA:445197": "Secondary vasculitis", "ORPHA:447881": "Idiopathic dropped head syndrome", "ORPHA:447877": "Polymerase proofreading-related adenomatous polyposis", "ORPHA:447896": "Tremor-ataxia-central hypomyelination syndrome", "ORPHA:447893": "Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome", "ORPHA:447792": "OBSOLETE: Hemochromatosis type 5", "ORPHA:447788": "Cerebral visual impairment", "ORPHA:447874": "Biological anomaly without phenotypic characterization", "ORPHA:447795": "Lipoyl transferase 2 deficiency", "ORPHA:447774": "Secondary sclerosing cholangitis", "ORPHA:447771": "Sclerosing cholangitis", "ORPHA:447784": "Mitochondrial pyruvate carrier deficiency", "ORPHA:447777": "Keratocystic odontogenic tumor", "ORPHA:447757": "Autosomal dominant spastic paraplegia type 9B", "ORPHA:447753": "Autosomal dominant spastic paraplegia type 9A", "ORPHA:447764": "IgG4-related sclerosing cholangitis", "ORPHA:447760": "Autosomal recessive spastic paraplegia type 9B", "ORPHA:412066": "PRKAR1B-related neurodegenerative dementia with intermediate filaments", "ORPHA:412057": "Autosomal recessive cerebellar ataxia due to STUB1 deficiency", "ORPHA:412181": "Epidermolysis bullosa simplex due to BP230 deficiency", "ORPHA:412069": "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome", "ORPHA:412189": "Epidermolysis bullosa simplex due to exophilin 5 deficiency", "ORPHA:412217": "Dystonia-aphonia syndrome", "ORPHA:412206": "Primary failure of tooth eruption", "ORPHA:412220": "OBSOLETE: Ramsay Hunt syndrome type II", "ORPHA:418959": "Squamous cell carcinoma of the stomach", "ORPHA:418945": "Carcinoma of esophagus, salivary gland type", "ORPHA:418951": "Undifferentiated carcinoma of esophagus", "ORPHA:420259": "Secondary pulmonary alveolar proteinosis", "ORPHA:420179": "Malan overgrowth syndrome", "ORPHA:414726": "Genetic facial cleft", "ORPHA:415675": "OBSOLETE: Small pox", "ORPHA:415300": "NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy", "ORPHA:415286": "Bilirubin encephalopathy", "ORPHA:415268": "NON RARE IN EUROPE: Adenocarcinoma of the lung", "ORPHA:415687": "NON RARE IN EUROPE: Sudden infant death syndrome", "ORPHA:420755": "Rare genetic odontal or periodontal disorder", "ORPHA:420789": "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea", "ORPHA:420794": "Cono-spondylar dysplasia", "ORPHA:420702": "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency", "ORPHA:420728": "Combined oxidative phosphorylation defect type 20", "ORPHA:420733": "Combined oxidative phosphorylation defect type 21", "ORPHA:420741": "RIDDLE syndrome", "ORPHA:420492": "Adult-onset cervical dystonia, DYT23 type", "ORPHA:420485": "Cranio-cervical dystonia with laryngeal and upper-limb involvement", "ORPHA:420556": "Visual snow syndrome", "ORPHA:420402": "Semicircular canal dehiscence syndrome", "ORPHA:420429": "Glycogen storage disease due to acid maltase deficiency, late-onset", "ORPHA:420611": "Transient myeloproliferative syndrome", "ORPHA:420584": "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome", "ORPHA:420699": "Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency", "ORPHA:420686": "Woolly hair-palmoplantar keratoderma syndrome", "ORPHA:420561": "Temple-Baraitser syndrome", "ORPHA:420573": "Severe combined immunodeficiency due to CTPS1 deficiency", "ORPHA:420566": "Bleeding disorder due to CalDAG-GEFI deficiency", "ORPHA:423461": "Mucolipidosis type III alpha/beta", "ORPHA:423470": "Mucolipidosis type III gamma", "ORPHA:423454": "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome", "ORPHA:423384": "Severe congenital neutropenia due to JAGN1 deficiency", "ORPHA:423296": "Spinocerebellar ataxia type 38", "ORPHA:423306": "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome", "ORPHA:423717": "Cutaneous larva migrans", "ORPHA:423771": "Rare carcinoma of stomach", "ORPHA:423693": "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect", "ORPHA:423712": "Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy", "ORPHA:423662": "Rare autonomic nervous system disorder", "ORPHA:423668": "NON RARE IN EUROPE: Cortisol-producing adrenal tumor", "ORPHA:423479": "X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency", "ORPHA:423655": "ARX-related encephalopathy-brain malformation spectrum", "ORPHA:422526": "Hereditary clear cell renal cell carcinoma", "ORPHA:422519": "OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency", "ORPHA:423275": "Spinocerebellar ataxia type 40", "ORPHA:424065": "Solid pseudopapillary carcinoma of pancreas", "ORPHA:424058": "Intraductal papillary mucinous carcinoma of pancreas", "ORPHA:424080": "Undifferentiated carcinoma with osteoclast-like giant cells of pancreas", "ORPHA:424073": "Serous cystadenocarcinoma of pancreas", "ORPHA:424107": "Congenital myopathy with myasthenic-like onset", "ORPHA:424099": "Colobomatous microphthalmia-rhizomelic dysplasia syndrome", "ORPHA:424925": "Qualitative or quantitative defects of Torsin-1A-interacting protein 1", "ORPHA:424261": "TOR1AIP1-related limb-girdle muscular dystrophy", "ORPHA:424016": "Adenocarcinoma of the anal canal", "ORPHA:424013": "Carcinoma of the anal canal", "ORPHA:424027": "Progressive myoclonic epilepsy type 8", "ORPHA:424019": "Squamous cell carcinoma of the anal canal", "ORPHA:424039": "Squamous cell carcinoma of pancreas", "ORPHA:424033": "Rare epithelial tumor of pancreas", "ORPHA:424053": "Mucinous cystadenocarcinoma of the pancreas", "ORPHA:424046": "Acinar cell carcinoma of pancreas", "ORPHA:423968": "Squamous cell carcinoma of the small intestine", "ORPHA:423975": "Neuroendocrine tumor of the small intestine", "ORPHA:423982": "Epithelial tumor of the appendix", "ORPHA:423991": "Rare epithelial tumor of colon", "ORPHA:423994": "Squamous cell carcinoma of the colon", "ORPHA:423998": "Rare epithelial tumor of rectum", "ORPHA:424002": "Squamous cell carcinoma of the rectum", "ORPHA:424010": "Epithelial tumor of anal canal", "ORPHA:423776": "Hereditary gastric cancer", "ORPHA:423781": "OBSOLETE: Carcinoma of stomach, salivary gland type", "ORPHA:423786": "Undifferentiated carcinoma of stomach", "ORPHA:423793": "Rare tumor of small intestine", "ORPHA:423798": "Mesenchymal tumor of small intestine", "ORPHA:423894": "Microcephaly-complex motor and sensory axonal neuropathy syndrome", "ORPHA:423957": "Rare carcinoma of small intestine", "ORPHA:431140": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome", "ORPHA:425368": "Rare epithelial tumor of small intestine", "ORPHA:425003": "Inherited digestive cancer-predisposing syndrome", "ORPHA:425120": "STING-associated vasculopathy with onset in infancy", "ORPHA:424943": "Adenocarcinoma of the liver and intrahepatic biliary tract", "ORPHA:424970": "Undifferentiated carcinoma of liver and intrahepatic biliary tract", "ORPHA:424933": "Rare malignant epithelial tumor of liver and intrahepatic biliary tract", "ORPHA:424936": "Carcinoma of liver and intrahepatic biliary tract", "ORPHA:424991": "Adenocarcinoma of the gallbladder and extrahepatic biliary tract", "ORPHA:424996": "Squamous cell carcinoma of gallbladder and extrahepatic biliary tract", "ORPHA:424975": "Squamous cell carcinoma of liver and intrahepatic biliary tract", "ORPHA:424982": "Biliary cystadenocarcinoma", "ORPHA:431361": "Progressive encephalopathy with leukodystrophy due to DECR deficiency", "ORPHA:431353": "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis", "ORPHA:431341": "Patent urachus", "ORPHA:431344": "Urachal sinus", "ORPHA:431347": "Urachal diverticulum", "ORPHA:431272": "X-linked scapuloperoneal muscular dystrophy", "ORPHA:431320": "Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder", "ORPHA:431329": "Autosomal recessive spastic paraplegia type 57", "ORPHA:431255": "Scapuloperoneal spinal muscular atrophy", "ORPHA:431263": "Late-onset scapuloperoneal muscular dystrophy with hyaline bodies", "ORPHA:431149": "Combined immunodeficiency due to OX40 deficiency", "ORPHA:431156": "Primary immunodeficiency with predisposition to severe viral infection", "ORPHA:431166": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection", "ORPHA:435438": "Progressive myoclonic epilepsy type 7", "ORPHA:435387": "Autosomal dominant Charcot-Marie-Tooth disease type 2Y", "ORPHA:435372": "Anterior urethral valve", "ORPHA:435365": "Fetal lower urinary tract obstruction", "ORPHA:435329": "Familial ossifying fibroma", "ORPHA:434809": "Syndrome with woolly hair", "ORPHA:434786": "Rare genetic autonomic nervous system disorder", "ORPHA:434179": "Orofaciodigital syndrome type 14", "ORPHA:504476": "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome", "ORPHA:504523": "Severe combined immunodeficiency due to LAT deficiency", "ORPHA:504530": "Combined immunodeficiency due to Moesin deficiency", "ORPHA:26823": "NON RARE IN EUROPE: Pigment-dispersion syndrome", "ORPHA:26793": "Very long chain acyl-CoA dehydrogenase deficiency", "ORPHA:29072": "Hereditary pheochromocytoma-paraganglioma", "ORPHA:28378": "Tyrosinemia type 2", "ORPHA:28455": "OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus", "ORPHA:29207": "Reactive arthritis", "ORPHA:29073": "Multiple myeloma", "ORPHA:29822": "Spontaneous periodic hypothermia", "ORPHA:30391": "Isolated biliary atresia", "ORPHA:320": "Apparent mineralocorticoid excess", "ORPHA:724": "Idiopathic acute eosinophilic pneumonia", "ORPHA:230": "Dopamine beta-hydroxylase deficiency", "ORPHA:725": "Developmental and epileptic encephalopathy with spike-wave activation in sleep", "ORPHA:590": "Congenital myasthenic syndrome", "ORPHA:404": "Familial hyperaldosteronism type II", "ORPHA:756": "Pseudohypoaldosteronism type 1", "ORPHA:162": "Congenital cataract-anterior segment dysgenesis syndrome", "ORPHA:544": "Diffuse large B-cell lymphoma", "ORPHA:545": "Follicular lymphoma", "ORPHA:88": "Idiopathic aplastic anemia", "ORPHA:102": "Multiple system atrophy", "ORPHA:824": "Primary myelofibrosis", "ORPHA:748": "Mendelian susceptibility to mycobacterial diseases", "ORPHA:729": "Polycythemia vera", "ORPHA:25980": "X-linked myopathy with excessive autophagy", "ORPHA:26137": "Juvenile temporal arteritis", "ORPHA:26106": "Hereditary diffuse gastric cancer", "ORPHA:505395": "Ventilator-induced diaphragmatic dysfunction", "ORPHA:25968": "Self-limited childhood occipital epilepsy", "ORPHA:807": "Sebastian syndrome", "ORPHA:26790": "Pseudomyxoma peritonei", "ORPHA:26792": "Short chain acyl-CoA dehydrogenase deficiency", "ORPHA:26791": "Multiple acyl-CoA dehydrogenase deficiency", "ORPHA:26348": "Acquired prothrombin deficiency", "ORPHA:26349": "Protein S acquired deficiency", "ORPHA:620": "NON RARE IN EUROPE: Common mesentery", "ORPHA:831": "Congenital cervical spinal stenosis", "ORPHA:49": "Penile agenesis", "ORPHA:227": "Diphallia", "ORPHA:674": "Accessory pancreas", "ORPHA:386": "Hepatic cystic hamartoma", "ORPHA:266": "Autosomal dominant limb-girdle muscular dystrophy type 1A", "ORPHA:264": "Autosomal dominant limb-girdle muscular dystrophy type 1B", "ORPHA:353": "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5", "ORPHA:219": "Delta-sarcoglycan-related limb-girdle muscular dystrophy R6", "ORPHA:641": "Multifocal motor neuropathy", "ORPHA:119": "Beta-sarcoglycan-related limb-girdle muscular dystrophy R4", "ORPHA:603": "Distal myopathy, Welander type", "ORPHA:505227": "Combined immunodeficiency due to GINS1 deficiency", "ORPHA:505237": "Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome", "ORPHA:588": "Muscle-eye-brain disease", "ORPHA:899": "Walker-Warburg syndrome", "ORPHA:505216": "3-methylglutaconic aciduria type 9", "ORPHA:272": "Congenital muscular dystrophy, Fukuyama type", "ORPHA:505208": "3-methylglutaconic aciduria type 8", "ORPHA:265": "Autosomal dominant limb-girdle muscular dystrophy type 1C", "ORPHA:268": "Dysferlin-related limb-girdle muscular dystrophy R2", "ORPHA:278": "OBSOLETE: Corticobasal degeneration", "ORPHA:263": "Limb-girdle muscular dystrophy", "ORPHA:600": "Vocal cord and pharyngeal distal myopathy", "ORPHA:505248": "Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders", "ORPHA:609": "Tibial muscular dystrophy", "ORPHA:602": "GNE myopathy", "ORPHA:505242": "Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome", "ORPHA:508093": "MEPAN syndrome", "ORPHA:508533": "Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome", "ORPHA:508542": "Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome", "ORPHA:508410": "Familial intestinal malrotation", "ORPHA:508512": "Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome", "ORPHA:508529": "Intermediate epidermolysis bullosa simplex with cardiomyopathy", "ORPHA:508523": "Hyperphenylalaninemia due to DNAJC12 deficiency", "ORPHA:508488": "8q24.3 microdeletion syndrome", "ORPHA:508476": "Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome", "ORPHA:508501": "Oral-facial-digital syndrome with short stature and brachymesophalangy", "ORPHA:508498": "Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome", "ORPHA:505652": "CDKL5-deficiency disorder", "ORPHA:506784": "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome", "ORPHA:506334": "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency", "ORPHA:506307": "Stromme syndrome", "ORPHA:506358": "Gabriele-de Vries syndrome", "ORPHA:506353": "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction", "ORPHA:506216": "Rare disorder potentially indicated for bowel transplant", "ORPHA:506219": "Rare disorder potentially indicated for hematopoietic stem cell transplant", "ORPHA:506222": "Rare disorder potentially indicated for lung transplant", "ORPHA:506225": "Rare disorder potentially indicated for heart transplant", "ORPHA:506136": "Neuroendocrine neoplasm of esophagus", "ORPHA:506207": "Rare disorder potentially indicated for transplant", "ORPHA:506210": "Rare disorder potentially indicated for liver transplant", "ORPHA:506213": "Rare disorder potentially indicated for kidney transplant", "ORPHA:506090": "Serotonin-producing neuroendocrine tumor of pancreas", "ORPHA:506098": "Neuroendocrine carcinoma of pancreas", "ORPHA:506112": "Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas", "ORPHA:506124": "OBSOLETE: Neuroendocrine tumor of small intestine", "ORPHA:506052": "Neuroendocrine neoplasm of pancreas", "ORPHA:506060": "Functioning neuroendocrine tumor of pancreas", "ORPHA:506075": "Non-functioning neuroendocrine tumor of pancreas", "ORPHA:495274": "Charcot-Marie-Tooth disease type 2T", "ORPHA:495844": "C11ORF73-related autosomal recessive hypomyelinating leukodystrophy", "ORPHA:495818": "9q33.3q34.11 microdeletion syndrome", "ORPHA:495879": "Congenital agenesis of the scrotum", "ORPHA:495875": "Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome", "ORPHA:495930": "Familial monosomy 7 syndrome", "ORPHA:496641": "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome", "ORPHA:496686": "Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome", "ORPHA:496689": "Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome", "ORPHA:496693": "Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome", "ORPHA:496751": "EVEN-plus syndrome", "ORPHA:496756": "Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome", "ORPHA:496790": "Ocular anomalies-axonal neuropathy-developmental delay syndrome", "ORPHA:494433": "MIRAGE syndrome", "ORPHA:494439": "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome", "ORPHA:494424": "Extracranial carotid artery aneurysm", "ORPHA:494428": "Idiopathic pleuroparenchymal fibroelastosis", "ORPHA:494451": "Vulvar basal cell carcinoma", "ORPHA:494454": "Vulvar adenocarcinoma", "ORPHA:494444": "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome", "ORPHA:494448": "Vulvar squamous cell carcinoma", "ORPHA:494344": "RERE-related neurodevelopmental syndrome", "ORPHA:494418": "Vulvar carcinoma", "ORPHA:494421": "Sacrococcygeal teratoma", "ORPHA:494348": "Early-onset familial noncirrhotic portal hypertension", "ORPHA:494547": "Squamous cell carcinoma of the hypopharynx", "ORPHA:494541": "Childhood-onset benign chorea with striatal involvement", "ORPHA:494526": "Infantile-onset generalized dyskinesia with orofacial involvement", "ORPHA:494457": "Rare hyperkinetic movement disorder", "ORPHA:494550": "Squamous cell carcinoma of the larynx", "ORPHA:500180": "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder", "ORPHA:500188": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome", "ORPHA:68": "Amoebiasis due to free-living amoebae", "ORPHA:781": "Q fever", "ORPHA:500150": "Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome", "ORPHA:500159": "Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom", "ORPHA:500163": "Witteveen-Kolk syndrome", "ORPHA:302": "Inherited epidermodysplasia verruciformis", "ORPHA:297": "Tick-borne encephalitis", "ORPHA:500166": "SIN3-related intellectual disability syndrome due to a point mutation", "ORPHA:182": "Chromomycosis", "ORPHA:128": "Diphyllobothriasis", "ORPHA:283": "Demodicidosis", "ORPHA:210": "Cyclosporiasis", "ORPHA:76": "Strongyloidiasis", "ORPHA:74": "Angiostrongyliasis", "ORPHA:108": "Babesiosis", "ORPHA:78": "Ankylostomiasis", "ORPHA:500135": "Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome", "ORPHA:500144": "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome", "ORPHA:500055": "Hao-Fountain syndrome due to 16p13.2 microdeletion", "ORPHA:500095": "Tall stature-intellectual disability-renal anomalies syndrome", "ORPHA:500062": "Infantile-onset periodic fever-panniculitis-dermatosis syndrome", "ORPHA:129": "Pseudopelade of Brocq", "ORPHA:123": "Björnstad syndrome", "ORPHA:898": "Wagner disease", "ORPHA:500478": "Squamous cell carcinoma of the oropharynx", "ORPHA:518": "Acute megakaryoblastic leukemia", "ORPHA:500481": "OBSOLETE: Squamous cell carcinoma of salivary glands", "ORPHA:318": "Acute erythroid leukemia", "ORPHA:514": "Acute monoblastic/monocytic leukemia", "ORPHA:517": "Acute myelomonocytic leukemia", "ORPHA:505": "Graham Little-Piccardi-Lassueur syndrome", "ORPHA:346": "Quinquaud folliculitis decalvans", "ORPHA:222": "Erosive pustular dermatosis of the scalp", "ORPHA:202": "Crandall syndrome", "ORPHA:170": "Woolly hair", "ORPHA:500548": "Osteosclerotic metaphyseal dysplasia", "ORPHA:169": "Ringed hair disease", "ORPHA:500533": "Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome", "ORPHA:168": "Loose anagen syndrome", "ORPHA:500545": "Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract", "ORPHA:345": "Dissecting cellulitis of the scalp", "ORPHA:591": "Furuncular myiasis", "ORPHA:723": "Pneumocystosis", "ORPHA:472": "Isosporiasis", "ORPHA:504": "Creeping myiasis", "ORPHA:401": "Hymenolepiasis", "ORPHA:430": "OBSOLETE: Hypodermyiasis", "ORPHA:390": "Histoplasmosis", "ORPHA:400": "Cystic echinococcosis", "ORPHA:500464": "Squamous cell carcinoma of the nasal cavity and paranasal sinuses", "ORPHA:520": "Acute promyelocytic leukemia", "ORPHA:450": "Heterotaxia", "ORPHA:529": "Roch-Leri mesosomatous lipomatosis", "ORPHA:224": "Neonatal diabetes mellitus", "ORPHA:826": "Sporotrichosis", "ORPHA:879": "Tungiasis", "ORPHA:502305": "Cochleovestibular malformation", "ORPHA:502318": "Cochlear nerve deficiency", "ORPHA:502363": "Squamous cell carcinoma of the oral cavity", "ORPHA:502366": "Squamous cell carcinoma of the lip", "ORPHA:502369": "Squamous cell carcinoma of oral cavity and lip", "ORPHA:502423": "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome", "ORPHA:502430": "Weiss-Kruszka Syndrome", "ORPHA:502434": "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome", "ORPHA:502437": "4q25 proximal deletion syndrome", "ORPHA:502499": "Erythema multiforme major", "ORPHA:502444": "Alkaline ceramidase 3 deficiency", "ORPHA:432": "Normosmic congenital hypogonadotropic hypogonadism", "ORPHA:91": "Aromatase deficiency", "ORPHA:785": "Estrogen resistance syndrome", "ORPHA:625": "NON RARE IN EUROPE: Atypical mole", "ORPHA:873": "Desmoid tumor", "ORPHA:553": "OBSOLETE: Cushing syndrome", "ORPHA:679": "Malignant atrophic papulosis", "ORPHA:901": "Wells syndrome", "ORPHA:703": "Bullous pemphigoid", "ORPHA:841": "Sebocystomatosis", "ORPHA:817": "Peeling skin syndrome", "ORPHA:830": "NON RARE IN EUROPE: Stuccokeratosis", "ORPHA:867": "Familial multiple trichoepithelioma", "ORPHA:735": "Porokeratosis of Mibelli", "ORPHA:497906": "Childhood-onset basal ganglia degeneration syndrome", "ORPHA:659": "Mutilating palmoplantar keratoderma with periorificial keratotic plaques", "ORPHA:737": "Porokeratosis plantaris palmaris et disseminata", "ORPHA:736": "Palmoplantar porokeratosis of Mantoux", "ORPHA:497623": "C12ORF65-related combined oxidative phosphorylation defect", "ORPHA:523": "Hereditary leiomyomatosis and renal cell cancer", "ORPHA:497737": "Epidermolytic nevus", "ORPHA:314": "Erythroderma desquamativum", "ORPHA:497757": "MME-related autosomal dominant Charcot Marie Tooth disease type 2", "ORPHA:623": "NAME syndrome", "ORPHA:497764": "Spinocerebellar ataxia type 43", "ORPHA:530": "Lipoid proteinosis", "ORPHA:493": "Familial keratoacanthoma", "ORPHA:462": "NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris", "ORPHA:497188": "Diffuse intrinsic pontine glioma", "ORPHA:498": "Keratosis pilaris atrophicans", "ORPHA:496916": "Rare genetic hyperkinetic movement disorder", "ORPHA:496924": "Non-inflammatory vasculopathy", "ORPHA:454": "Acquired ichthyosis", "ORPHA:490": "Omphalomesenteric cyst", "ORPHA:498467": "Non-syndromic postaxial polydactyly", "ORPHA:498464": "Non-syndromic preaxial polydactyly", "ORPHA:238": "OBSOLETE: Digestive duplication", "ORPHA:498461": "Non-syndromic terminal transverse limb defect", "ORPHA:617": "Congenital primary megaureter", "ORPHA:488": "Urachal cyst", "ORPHA:498457": "Non-syndromic longitudinal limb defect", "ORPHA:105": "Atresia of urethra", "ORPHA:498454": "Dysostosis with brachydactyly with extraskeletal manifestations", "ORPHA:237": "Duplication of urethra", "ORPHA:498451": "Dysostosis with brachydactyly without extraskeletal manifestations", "ORPHA:498448": "Overgrowth or tall stature syndrome with skeletal involvement", "ORPHA:734": "Alpha delta granule deficiency", "ORPHA:721": "Gray platelet syndrome", "ORPHA:498445": "Genetic inflammatory or rheumatoid-like osteoarthropathy", "ORPHA:722": "Hypoplasminogenemia", "ORPHA:749": "Congenital prekallikrein deficiency", "ORPHA:853": "Fetal and neonatal alloimmune thrombocytopenia", "ORPHA:483": "Congenital high-molecular-weight kininogen deficiency", "ORPHA:498359": "Aquagenic palmoplantar keratoderma", "ORPHA:852": "X-linked thrombocytopenia with normal platelets", "ORPHA:498350": "Syndromic biliary atresia", "ORPHA:465": "Congenital plasminogen activator inhibitor type 1 deficiency", "ORPHA:498345": "Biliary atresia and associated disorders", "ORPHA:310": "Reflex epilepsy", "ORPHA:498251": "Menstrual cycle-dependent periodic fever", "ORPHA:1332": "Medullary thyroid carcinoma", "ORPHA:877": "Neuroendocrine neoplasm", "ORPHA:73": "Gorham-Stout disease", "ORPHA:498228": "Phyllodes tumor of the prostate", "ORPHA:728": "Relapsing polychondritis", "ORPHA:467": "Non-acquired combined pituitary hormone deficiency", "ORPHA:463": "NON RARE IN EUROPE: Adrenal incidentaloma", "ORPHA:872": "OBSOLETE: Disorder in the hormonal synthesis with or without goiter", "ORPHA:142": "Anaplastic thyroid carcinoma", "ORPHA:143": "Parathyroid carcinoma", "ORPHA:759": "NON RARE IN EUROPE: Central precocious puberty", "ORPHA:786": "Generalized glucocorticoid resistance syndrome", "ORPHA:1676": "Idiopathic pulmonary artery dilatation", "ORPHA:1666": "Dextrocardia", "ORPHA:1461": "Criss-cross heart", "ORPHA:1205": "Mitral atresia", "ORPHA:3192": "Supravalvular pulmonary stenosis", "ORPHA:875": "Primary pediatric heart tumor", "ORPHA:499085": "Chronic relapsing inflammatory optic neuritis", "ORPHA:334": "Familial atrial fibrillation", "ORPHA:615": "Familial atrial myxoma", "ORPHA:498700": "OBSOLETE: Limbic encephalitis with neurexin-3 antibodies", "ORPHA:874": "Primary adult heart tumor", "ORPHA:499009": "Congenital syphilis", "ORPHA:499004": "OBSOLETE: Tuberculous meningitis", "ORPHA:1330": "Partial atrioventricular septal defect", "ORPHA:2452": "OBSOLETE: Vascular malposition", "ORPHA:499047": "Autoimmune/inflammatory optic neuropathy", "ORPHA:1677": "Familial idiopathic dilatation of the right atrium", "ORPHA:498497": "Short rib-polydactyly syndrome type 5", "ORPHA:720": "Pili bifurcati", "ORPHA:671": "Primary cutis verticis gyrata", "ORPHA:864": "Trichofolliculoma", "ORPHA:498602": "Sugarman brachydactyly", "ORPHA:719": "OBSOLETE: Pili canulati", "ORPHA:247": "Inherited arrhythmogenic cardiomyopathy", "ORPHA:498693": "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome", "ORPHA:498470": "Non-syndromic complex polydactyly", "ORPHA:444": "Marie Unna hereditary hypotrichosis", "ORPHA:2221": "Acquired hypertrichosis lanuginosa", "ORPHA:498474": "Hyaline fibromatosis syndrome", "ORPHA:492": "Proliferating trichilemmal cyst", "ORPHA:498477": "Ectrodactyly with and without other manifestations", "ORPHA:498481": "LRP5-related primary osteoporosis", "ORPHA:499": "Kerion celsi", "ORPHA:498485": "Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome", "ORPHA:573": "Monilethrix", "ORPHA:498488": "Overgrowth syndrome with 2q37 translocation", "ORPHA:525": "Lichen planopilaris", "ORPHA:498491": "Non-syndromic complete hemimelia", "ORPHA:700": "Alopecia totalis", "ORPHA:840": "Syringocystadenoma papilliferum", "ORPHA:498494": "Mirror-image polydactyly", "ORPHA:384": "Huriez syndrome", "ORPHA:315": "Erythrokeratoderma ''en cocardes''", "ORPHA:338": "Familial multiple fibrofolliculoma", "ORPHA:409": "Hyperkeratosis lenticularis perstans", "ORPHA:496": "Thost-Unna palmoplantar keratoderma", "ORPHA:41": "Dyschromatosis symmetrica hereditaria", "ORPHA:122": "Birt-Hogg-Dubé syndrome", "ORPHA:38": "Acrokeratoelastoidosis of Costa", "ORPHA:39": "Acromelanosis", "ORPHA:241": "Dyschromatosis universalis hereditaria", "ORPHA:316": "Progressive symmetric erythrokeratodermia", "ORPHA:211": "Familial cylindromatosis", "ORPHA:435": "OBSOLETE: Ito hypomelanosis", "ORPHA:658": "Non-histaminic angioedema", "ORPHA:3282": "Multifocal atrial tachycardia", "ORPHA:188": "Systemic capillary leak syndrome", "ORPHA:303": "Dystrophic epidermolysis bullosa", "ORPHA:305": "Junctional epidermolysis bullosa", "ORPHA:3406": "Ulerythema ophryogenesis", "ORPHA:499182": "Pilomatrix carcinoma", "ORPHA:2908": "Kindler epidermolysis bullosa", "ORPHA:81": "Antisynthetase syndrome", "ORPHA:499107": "Idiopathic optic perineuritis", "ORPHA:563": "Peripartum cardiomyopathy", "ORPHA:764": "Pyomyositis", "ORPHA:499096": "Isolated optic neuritis", "ORPHA:779": "Reynolds syndrome", "ORPHA:499103": "Recurrent idiopathic neuroretinitis", "ORPHA:838": "Susac syndrome", "ORPHA:889": "Cutaneous small vessel vasculitis", "ORPHA:482": "Kimura disease", "ORPHA:485631": "Congenital bile acid synthesis defect", "ORPHA:485426": "Isolated congenital hepatic fibrosis", "ORPHA:486811": "Prenatal-onset spinal muscular atrophy with congenital bone fractures", "ORPHA:486815": "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome", "ORPHA:485418": "EMILIN-1-related connective tissue disease", "ORPHA:485421": "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect", "ORPHA:485382": "Rare genetic premature ovarian failure", "ORPHA:485405": "16p12.1p12.3 triplication syndrome", "ORPHA:485350": "CLCN4-related X-linked intellectual disability syndrome", "ORPHA:485358": "Propylthiouracil embryofetopathy", "ORPHA:485275": "Acquired schizencephaly", "ORPHA:482606": "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome", "ORPHA:482092": "Rare idiopathic macular telangiectasia", "ORPHA:482601": "Adenylosuccinate synthetase-like 1-related distal myopathy", "ORPHA:31828": "Digitalis poisoning", "ORPHA:480864": "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome", "ORPHA:31837": "Pulmonary venoocclusive disease", "ORPHA:480907": "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome", "ORPHA:480898": "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome", "ORPHA:480880": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability", "ORPHA:31740": "Hypersensitivity pneumonitis", "ORPHA:480556": "Isolated neonatal sclerosing cholangitis", "ORPHA:480553": "Aneurysmal bone cyst", "ORPHA:480549": "Non-severe combined immunodeficiency", "ORPHA:480541": "High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement", "ORPHA:31709": "Infantile convulsions and choreoathetosis", "ORPHA:31826": "Ethylene glycol poisoning", "ORPHA:480851": "Hereditary thrombocytopenia with early-onset myelofibrosis", "ORPHA:31827": "Paraquat poisoning", "ORPHA:480773": "OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome", "ORPHA:31824": "Colchicine poisoning", "ORPHA:480701": "Facial diplegia with paresthesias", "ORPHA:480682": "POGLUT1-related limb-girdle muscular dystrophy R21", "ORPHA:31825": "Methanol poisoning", "ORPHA:481665": "USP18 deficiency", "ORPHA:481671": "Type 1 interferonopathy of childhood", "ORPHA:482072": "HTRA1-related cerebral small vessel disease", "ORPHA:482077": "HTRA1-related autosomal dominant cerebral small vessel disease", "ORPHA:481771": "Genetic alopecia", "ORPHA:481986": "Familial schizencephaly", "ORPHA:481475": "OBSOLETE: Gastric neuroendocrine tumor type 2", "ORPHA:481478": "OBSOLETE: Gastric neuroendocrine tumor type 3", "ORPHA:481152": "PYCR2-related microcephaly-progressive leukoencephalopathy", "ORPHA:481469": "OBSOLETE: Gastric neuroendocrine tumor type 1", "ORPHA:481662": "Familial Chilblain lupus", "ORPHA:481481": "OBSOLETE: Gastric neuroendocrine tumor type 4", "ORPHA:481508": "Gastroenteric neuroendocrine neoplasm", "ORPHA:480476": "Progressive familial intrahepatic cholestasis type 5", "ORPHA:480491": "MYO5B-related progressive familial intrahepatic cholestasis", "ORPHA:480483": "Progressive familial intrahepatic cholestasis type 4", "ORPHA:480528": "Lethal hydranencephaly-diaphragmatic hernia syndrome", "ORPHA:480524": "Idiopathic peliosis hepatis", "ORPHA:480536": "MSH3-related attenuated familial adenomatous polyposis", "ORPHA:480531": "Congenital portosystemic shunt", "ORPHA:480506": "Primary intrahepatic lithiasis", "ORPHA:480501": "Choledochal cyst", "ORPHA:480520": "Caroli syndrome", "ORPHA:480512": "Idiopathic ductopenia", "ORPHA:477811": "Rare hypercholesterolemia", "ORPHA:477814": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "ORPHA:477805": "Genetic cardiac malformation", "ORPHA:477808": "Other genetic dermis disorder", "ORPHA:477794": "Syndromic constitutional thrombocytopenia", "ORPHA:477797": "Isolated constitutional thrombocytopenia", "ORPHA:477781": "Primary condylar hyperplasia", "ORPHA:477787": "Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder", "ORPHA:478029": "Combined oxidative phosphorylation defect type 29", "ORPHA:478042": "Combined oxidative phosphorylation defect type 30", "ORPHA:477993": "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome", "ORPHA:477857": "Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency", "ORPHA:477817": "PMP22-RAI1 contiguous gene duplication syndrome", "ORPHA:477831": "Kosaki overgrowth syndrome", "ORPHA:478049": "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome", "ORPHA:478664": "Hereditary sensory and autonomic neuropathy type 8", "ORPHA:477647": "Type 1 interferonopathy", "ORPHA:477650": "Fibroblastic rheumatism", "ORPHA:477668": "OBSOLETE: AymÚ-Gripp syndrome", "ORPHA:477661": "IL21-related infantile inflammatory bowel disease", "ORPHA:477684": "Combined oxidative phosphorylation defect type 26", "ORPHA:477673": "Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome", "ORPHA:477738": "Pediatric multiple sclerosis", "ORPHA:477697": "OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome", "ORPHA:477749": "Pontine autosomal dominant microangiopathy with leukoencephalopathy", "ORPHA:477742": "Nodular fasciitis", "ORPHA:477759": "COL4A1 or COL4A2-related cerebral small vessel disease", "ORPHA:477754": "Genetic cerebral small vessel disease", "ORPHA:477765": "COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency", "ORPHA:477762": "COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency", "ORPHA:477771": "Rare disorder with a moyamoya angiopathy", "ORPHA:477768": "Moyamoya angiopathy", "ORPHA:477774": "Combined oxidative phosphorylation defect type 27", "ORPHA:476116": "Demyelinating hereditary motor and sensory neuropathy", "ORPHA:476119": "Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome", "ORPHA:476109": "Axonal hereditary motor and sensory neuropathy", "ORPHA:476113": "Combined immunodeficiency due to TFRC deficiency", "ORPHA:476123": "Intermediate Charcot-Marie-Tooth disease", "ORPHA:476126": "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome", "ORPHA:476406": "Congenital generalized hypercontractile muscle stiffness syndrome", "ORPHA:476394": "PMP2-related Charcot-Marie-Tooth disease type 1", "ORPHA:476403": "Hypercontractile muscle stiffness syndrome", "ORPHA:493342": "Vibratory urticaria", "ORPHA:493348": "OBSOLETE: Vibratory angioedema", "ORPHA:488642": "TELO2-related intellectual disability-neurodevelopmental disorder", "ORPHA:488647": "DDX41-related hematologic malignancy predisposition syndrome", "ORPHA:488650": "Distal myopathy, Tateyama type", "ORPHA:488618": "Transketolase deficiency", "ORPHA:488627": "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome", "ORPHA:488632": "TBCK-related intellectual disability syndrome", "ORPHA:488635": "Early-onset epilepsy-intellectual disability-brain anomalies syndrome", "ORPHA:488265": "Osteofibrous dysplasia", "ORPHA:488239": "Acute macular neuroretinopathy", "ORPHA:488232": "Split-foot malformation-mesoaxial polydactyly syndrome", "ORPHA:488333": "Autosomal dominant Charcot-Marie-Tooth disease type 2W", "ORPHA:488280": "14q32 duplication syndrome", "ORPHA:488586": "Congenital amyoplasia", "ORPHA:488437": "SIX2-related frontonasal dysplasia", "ORPHA:488434": "Camptodactyly syndrome, Guadalajara type 3", "ORPHA:488613": "Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome", "ORPHA:488594": "Autosomal recessive spastic paraplegia type 76", "ORPHA:488197": "Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome", "ORPHA:488201": "NON RARE IN EUROPE: Non-small cell lung cancer", "ORPHA:488168": "Microcephaly-congenital cataract-psoriasiform dermatitis syndrome", "ORPHA:488191": "Female infertility due to oocyte meiotic arrest", "ORPHA:487796": "Takenouchi-Kosaki syndrome", "ORPHA:487814": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation", "ORPHA:487809": "Pediatric collagenous gastritis", "ORPHA:487825": "Pierpont syndrome", "ORPHA:486955": "Rare pediatric rheumatologic disease", "ORPHA:31205": "Rat-bite fever", "ORPHA:31204": "Nocardiosis", "ORPHA:31154": "Hypobetalipoproteinemia", "ORPHA:31202": "Melioidosis", "ORPHA:31150": "Tangier disease", "ORPHA:31153": "Hypoalphalipoproteinemia", "ORPHA:31142": "NON RARE IN EUROPE: Oral erosive lichen", "ORPHA:31043": "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement", "ORPHA:31112": "Dermatofibrosarcoma protuberans", "ORPHA:30924": "Primary hypomagnesemia with secondary hypocalcemia", "ORPHA:30925": "Hereditary arginine vasopressin deficiency", "ORPHA:476084": "BVES-related limb-girdle muscular dystrophy", "ORPHA:476096": "Erythrokeratodermia-cardiomyopathy syndrome", "ORPHA:476102": "OBSOLETE: Hereditary pediatric Behçet-like disease", "ORPHA:476093": "Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome", "ORPHA:471383": "Genetic lethal multiple congenital anomalies/dysmorphic syndrome", "ORPHA:474347": "Rare congenital anomaly of ventricular septum", "ORPHA:71278": "Congenital brain dysgenesis due to glutamine synthetase deficiency", "ORPHA:71279": "CANOMAD syndrome", "ORPHA:71281": "Rare central nervous system and retinal vascular disease", "ORPHA:71270": "OBSOLETE: Auriculoocular anomalies-cleft lip syndrome", "ORPHA:71271": "Split hand-split foot-deafness syndrome", "ORPHA:71272": "Sandifer syndrome", "ORPHA:71273": "Renal nutcracker syndrome", "ORPHA:71274": "Disseminated peritoneal leiomyomatosis", "ORPHA:71275": "Rh deficiency syndrome", "ORPHA:71276": "Silent sinus syndrome", "ORPHA:71277": "Classic glucose transporter type 1 deficiency syndrome", "ORPHA:71209": "Rare soft tissue tumor", "ORPHA:71212": "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency", "ORPHA:71211": "Neuromyelitis optica spectrum disorder", "ORPHA:71267": "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome", "ORPHA:71213": "Retinal capillary malformation", "ORPHA:71269": "OBSOLETE: Benign exophthalmos syndrome", "ORPHA:71198": "Rare pulmonary hypertension", "ORPHA:71203": "Autoimmune thrombocytopenia", "ORPHA:71202": "Rare hemorrhagic disorder due to a constitutional platelet anomaly", "ORPHA:558411": "Idiopathic gastroparesis", "ORPHA:70591": "Chronic thromboembolic pulmonary hypertension", "ORPHA:70592": "Transient predisposition to invasive pyogenic bacterial infection", "ORPHA:70589": "Bronchopulmonary dysplasia", "ORPHA:70590": "Infantile apnea", "ORPHA:70595": "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome", "ORPHA:70596": "Congenital Epstein-Barr virus infection", "ORPHA:70593": "Immunodeficiency due to selective anti-polysaccharide antibody deficiency", "ORPHA:70594": "Dopa-responsive dystonia due to sepiapterin reductase deficiency", "ORPHA:70578": "Adult acute respiratory distress syndrome", "ORPHA:70573": "Small cell lung cancer", "ORPHA:70568": "Post-transplant lymphoproliferative disease", "ORPHA:70588": "Meconium aspiration syndrome", "ORPHA:70587": "Infant acute respiratory distress syndrome", "ORPHA:70474": "Leigh syndrome with cardiomyopathy", "ORPHA:70472": "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type", "ORPHA:70470": "OBSOLETE: Hyperlipoproteinemia type 5", "ORPHA:70567": "Cholangiocarcinoma", "ORPHA:557866": "Rare disorder with Hirschsprung disease as a major feature", "ORPHA:70482": "Carcinoma of esophagus", "ORPHA:70476": "Vernal keratoconjunctivitis", "ORPHA:70475": "Radiation proctitis", "ORPHA:69744": "Circumscribed palmoplantar hypokeratosis", "ORPHA:69745": "Warty dyskeratoma", "ORPHA:69735": "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome", "ORPHA:69736": "Bilateral acute depigmentation of the iris", "ORPHA:69737": "Bosley-Salih-Alorainy syndrome", "ORPHA:69739": "Athabaskan brainstem dysgenesis syndrome", "ORPHA:69663": "Low phospholipid-associated cholelithiasis", "ORPHA:69665": "Intrahepatic cholestasis of pregnancy", "ORPHA:69723": "Tyrosinemia type 3", "ORPHA:69127": "NON RARE IN EUROPE: Immunoglobulin A deficiency", "ORPHA:69126": "PAPA syndrome", "ORPHA:69087": "Naegeli-Franceschetti-Jadassohn syndrome", "ORPHA:69125": "Anonychia with flexural pigmentation", "ORPHA:69088": "Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome", "ORPHA:69083": "Ectodermal dysplasia with natal teeth, Turnpenny type", "ORPHA:69082": "Odonto-tricho-ungual-digito-palmar syndrome", "ORPHA:69085": "Limb-mammary syndrome", "ORPHA:69084": "Pure hair and nail ectodermal dysplasia", "ORPHA:69077": "Rhabdoid tumor", "ORPHA:69076": "Familial renal glucosuria", "ORPHA:69078": "Liposarcoma", "ORPHA:69061": "Idiopathic steroid-sensitive nephrotic syndrome", "ORPHA:69063": "Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization", "ORPHA:67048": "3-methylglutaconic aciduria type 4", "ORPHA:69028": "Dysostosis with brachydactyly", "ORPHA:67046": "3-methylglutaconic aciduria type 1", "ORPHA:67047": "3-methylglutaconic aciduria type 3", "ORPHA:67044": "Thrombocytopenia with congenital dyserythropoietic anemia", "ORPHA:67045": "X-linked intellectual disability with isolated growth hormone deficiency", "ORPHA:67042": "Late-onset retinal degeneration", "ORPHA:67043": "Amoebic keratitis", "ORPHA:67039": "Segmental odontomaxillary dysplasia", "ORPHA:67041": "Hyaluronidase deficiency", "ORPHA:67037": "OBSOLETE: Squamous cell carcinoma of head and neck", "ORPHA:67038": "B-cell chronic lymphocytic leukemia", "ORPHA:66662": "Extracutaneous mastocytoma", "ORPHA:67036": "Autosomal dominant optic atrophy and cataract", "ORPHA:66661": "Mast cell sarcoma", "ORPHA:66646": "Cutaneous mastocytosis", "ORPHA:66637": "Diaphanospondylodysostosis", "ORPHA:66634": "Dilated cardiomyopathy with ataxia", "ORPHA:66633": "Sensorineural hearing loss-early graying-essential tremor syndrome", "ORPHA:66631": "CEDNIK syndrome", "ORPHA:66630": "Congenital pseudoarthrosis of the clavicle", "ORPHA:66629": "Goldberg-Shprintzen megacolon syndrome", "ORPHA:66628": "Obesity due to congenital leptin deficiency", "ORPHA:66627": "Tenosynovial giant cell tumor", "ORPHA:66625": "Cerebrooculonasal syndrome", "ORPHA:66624": "PANDAS", "ORPHA:66529": "Tako-Tsubo cardiomyopathy", "ORPHA:66518": "Short fifth metacarpals-insulin resistance syndrome", "ORPHA:65798": "Goodman syndrome", "ORPHA:65283": "Timothy syndrome", "ORPHA:65282": "Carvajal syndrome", "ORPHA:562639": "Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome", "ORPHA:65285": "Lhermitte-Duclos disease", "ORPHA:65284": "Biotin-thiamine-responsive basal ganglia disease", "ORPHA:65287": "Beta-ureidopropionase deficiency", "ORPHA:65286": "3q29 microdeletion syndrome", "ORPHA:65681": "Vaginal atresia", "ORPHA:65288": "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome", "ORPHA:65683": "Isolated focal cortical dysplasia", "ORPHA:65682": "Benign recurrent intrahepatic cholestasis", "ORPHA:65720": "Arthrogryposis-severe scoliosis syndrome", "ORPHA:65684": "Monomelic amyotrophy", "ORPHA:65748": "Multiple self-healing squamous epithelioma", "ORPHA:65743": "Autosomal dominant multiple pterygium syndrome", "ORPHA:65759": "Carpenter syndrome", "ORPHA:65753": "Charcot-Marie-Tooth disease type 1", "ORPHA:64744": "IgG4-related thyroid disease", "ORPHA:64745": "Pruritic urticarial papules and plaques of pregnancy", "ORPHA:64746": "Autosomal dominant Charcot-Marie-Tooth disease type 2", "ORPHA:64747": "X-linked Charcot-Marie-Tooth disease", "ORPHA:64748": "Dejerine-Sottas syndrome", "ORPHA:64749": "Charcot-Marie-Tooth disease type 4", "ORPHA:64751": "Hereditary motor and sensory neuropathy type 5", "ORPHA:562509": "Heme oxygenase-1 deficiency", "ORPHA:64752": "Hereditary sensory and autonomic neuropathy type 5", "ORPHA:64753": "Spinocerebellar ataxia with axonal neuropathy type 2", "ORPHA:64754": "Nevus comedonicus syndrome", "ORPHA:562528": "Congenital limbs-face contractures-hypotonia-developmental delay syndrome", "ORPHA:64755": "Becker nevus syndrome", "ORPHA:562559": "Anterior maxillary protrusion-strabismus-intellectual disability syndrome", "ORPHA:562538": "Autosomal recessive extra-oral halitosis", "ORPHA:65250": "NON RARE IN EUROPE: Perineural cyst", "ORPHA:65279": "OBSOLETE: Lymphocytic colitis", "ORPHA:562569": "TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome", "ORPHA:64686": "Tolosa-Hunt syndrome", "ORPHA:64545": "Benign idiopathic neonatal seizures", "ORPHA:64542": "Acrofacial dysostosis, Kennedy-Teebi type", "ORPHA:64280": "Childhood absence epilepsy", "ORPHA:64722": "Granulomatous mastitis", "ORPHA:64720": "Leiomyosarcoma", "ORPHA:64694": "Trench fever", "ORPHA:64692": "Bartonella bacilliformis infection", "ORPHA:64739": "Ovarian hyperstimulation syndrome", "ORPHA:64738": "NON RARE IN EUROPE: Non rare thrombophilia", "ORPHA:64734": "Iridocorneal endothelial syndrome", "ORPHA:64743": "Hepatoportal sclerosis", "ORPHA:64742": "Pleuropulmonary blastoma", "ORPHA:64741": "Pulmonary blastoma", "ORPHA:561854": "FOXG1 syndrome", "ORPHA:64740": "NON RARE IN EUROPE: Recurrent acute pancreatitis", "ORPHA:63261": "HERNS syndrome", "ORPHA:63269": "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis", "ORPHA:63259": "Iniencephaly", "ORPHA:63260": "Craniorachischisis", "ORPHA:63440": "OBSOLETE: Isolated oxycephaly", "ORPHA:63442": "Angel-shaped phalango-epiphyseal dysplasia", "ORPHA:63273": "Distal myopathy with posterior leg and anterior hand involvement", "ORPHA:63275": "Pemphigoid gestationis", "ORPHA:63454": "Pattern dystrophy", "ORPHA:63455": "Paraneoplastic pemphigus", "ORPHA:63443": "Rare epithelial tumor of stomach", "ORPHA:63446": "Acrocapitofemoral dysplasia", "ORPHA:63999": "IgG4-related mediastinitis", "ORPHA:63862": "Schisis association", "ORPHA:60040": "Megalencephaly-capillary malformation-polymicrogyria syndrome", "ORPHA:60039": "Pudendal nerve entrapment syndrome", "ORPHA:60041": "Congenital heart block", "ORPHA:60032": "Recurrent respiratory papillomatosis", "ORPHA:60033": "Idiopathic bronchiectasis", "ORPHA:59303": "Neonatal ichthyosis-sclerosing cholangitis syndrome", "ORPHA:563954": "Isolated congenital hypoglossia", "ORPHA:59305": "Gestational trophoblastic neoplasm", "ORPHA:563951": "Isolated congenital aglossia", "ORPHA:59306": "McLeod neuroacanthocytosis syndrome", "ORPHA:59298": "Schilder disease", "ORPHA:60015": "Enlarged parietal foramina", "ORPHA:564003": "Osteochondrosis of the metatarsal bone", "ORPHA:60025": "Pulmonary alveolar microlithiasis", "ORPHA:563991": "Osteochondrosis of the tarsal bone", "ORPHA:60026": "Pulmonary nodular lymphoid hyperplasia", "ORPHA:564178": "Primary hypomagnesemia-refractory seizures-intellectual disability syndrome", "ORPHA:564127": "Genetic nephrotic syndrome", "ORPHA:60030": "Loeys-Dietz syndrome", "ORPHA:59315": "Rhombencephalosynapsis", "ORPHA:60014": "Argyria", "ORPHA:57777": "NON RARE IN EUROPE: Cirrhotic cardiomyopathy", "ORPHA:57196": "Medial condensing osteitis of the clavicle", "ORPHA:57194": "OBSOLETE: Aseptic osteitis", "ORPHA:563690": "Furuncular myiasis due to Cordylobia rodhaini", "ORPHA:57146": "Rare hepatic disease", "ORPHA:563708": "Syndromic congenital sodium diarrhea", "ORPHA:57145": "SUNCT syndrome", "ORPHA:563684": "Furuncular myiasis due to Dermatobia hominis", "ORPHA:563687": "Furuncular myiasis due to Cordylobia anthropophaga", "ORPHA:56970": "Human prion disease", "ORPHA:56965": "Progressive bulbar paralysis of childhood", "ORPHA:563671": "Mucinous cystadenoma of childhood", "ORPHA:56425": "Cold agglutinin disease", "ORPHA:563676": "Seromucinous cystadenoma of childhood", "ORPHA:59181": "Sorsby pseudoinflammatory fundus dystrophy", "ORPHA:59135": "Laing distal myopathy", "ORPHA:58220": "OBSOLETE: Microscopic colitis", "ORPHA:58208": "NON RARE IN EUROPE: Pericarditis", "ORPHA:58040": "Osteoblastoma", "ORPHA:58017": "Classic hairy cell leukemia", "ORPHA:57782": "Mazabraud syndrome", "ORPHA:55595": "TNP03-related limb-girdle muscular dystrophy D2", "ORPHA:55596": "HNRNPDL-related limb-girdle muscular dystrophy D3", "ORPHA:54595": "Craniopharyngioma", "ORPHA:54368": "Sarcocystosis", "ORPHA:54370": "Primary membranoproliferative glomerulonephritis", "ORPHA:54272": "Hepatocellular adenoma", "ORPHA:56304": "Atelosteogenesis type II", "ORPHA:563666": "Serous cystadenoma of childhood", "ORPHA:56305": "Atelosteogenesis type III", "ORPHA:563612": "Isolated exencephaly", "ORPHA:563609": "Isolated anencephaly", "ORPHA:56044": "Carcinoma of gallbladder and extrahepatic biliary tract", "ORPHA:563589": "Seronegative autoimmune hepatitis", "ORPHA:55880": "Chondrosarcoma", "ORPHA:563581": "Autoimmune hepatitis type 2", "ORPHA:55881": "Adamantinoma", "ORPHA:563576": "Autoimmune hepatitis type 1", "ORPHA:55654": "Hypotrichosis simplex", "ORPHA:55655": "Pneumococcal meningitis", "ORPHA:79217": "Other metabolic disease with skin involvement", "ORPHA:79215": "Oligosaccharidosis", "ORPHA:79214": "Disorder of biogenic amine metabolism and transport", "ORPHA:79219": "Metabolic disease involving other neurotransmitter deficiency", "ORPHA:565837": "Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23", "ORPHA:565858": "Craniosynostosis-microretrognathia-severe intellectual disability syndrome", "ORPHA:79207": "Disorder of lysosomal amino acid transport", "ORPHA:565788": "Infantile inflammatory bowel disease with neurological involvement", "ORPHA:79213": "Mucopolysaccharidosis", "ORPHA:79212": "Mucolipidosis", "ORPHA:565899": "POMGNT2-related limb-girdle muscular dystrophy R24", "ORPHA:79211": "OBSOLETE: Combined hyperlipidemia", "ORPHA:565909": "Calpain-3-related limb-girdle muscular dystrophy D4", "ORPHA:79233": "Hypoxanthine guanine phosphoribosyltransferase partial deficiency", "ORPHA:79230": "HJV or HAMP-related hemochromatosis", "ORPHA:79237": "Galactokinase deficiency", "ORPHA:566067": "CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome", "ORPHA:79234": "Crigler-Najjar syndrome type 1", "ORPHA:79235": "Crigler-Najjar syndrome type 2", "ORPHA:79224": "Disorder of purine or pyrimidine metabolism", "ORPHA:79225": "Sphingolipidosis", "ORPHA:79226": "Sterol metabolism disorder", "ORPHA:79183": "Disorder of ketolysis", "ORPHA:79185": "Disorder of ornithine or proline metabolism", "ORPHA:79187": "Disorder of peptide metabolism", "ORPHA:79186": "Disorder of pentose phosphate metabolism", "ORPHA:79189": "Peroxisome biogenesis disorder", "ORPHA:79188": "Peroxisomal beta-oxidation disorder", "ORPHA:79175": "Disorder of gamma-aminobutyric acid metabolism", "ORPHA:79174": "Disorder of fatty acid oxidation and ketone body metabolism", "ORPHA:79177": "Gluconeogenesis disorder", "ORPHA:79179": "Disorder of glycerol metabolism", "ORPHA:79178": "Glucose transport disorder", "ORPHA:79181": "Disorder of histidine metabolism", "ORPHA:79200": "Disorder of energy metabolism", "ORPHA:565624": "Combined oxidative phosphorylation defect type 39", "ORPHA:565612": "Primary triglyceride deposit cardiomyovasculopathy", "ORPHA:79201": "Glycogen storage disease", "ORPHA:565779": "Rare disorder potentially indicated for transplant or complication after transplantation", "ORPHA:565641": "Primary desmosis coli", "ORPHA:79204": "Lipid storage disease", "ORPHA:565782": "Methotrexate toxicity", "ORPHA:79190": "Disorder of phenylalanin or tyrosine metabolism", "ORPHA:79191": "Disorder of purine metabolism", "ORPHA:79192": "Disorder of pyridoxine metabolism", "ORPHA:79193": "Disorder of pyrimidine metabolism", "ORPHA:79194": "Disorder of serine or glycine metabolism", "ORPHA:79195": "Sterol biosynthesis disorder", "ORPHA:79196": "Disorder of the gamma-glutamyl cycle", "ORPHA:79197": "Disorder of branched-chain amino acid metabolism", "ORPHA:79157": "2-methylbutyryl-CoA dehydrogenase deficiency", "ORPHA:79156": "Seizures-intellectual disability due to hydroxylysinuria syndrome", "ORPHA:79155": "Hydroxykynureninuria", "ORPHA:79154": "2-aminoadipic 2-oxoadipic aciduria", "ORPHA:79153": "Idiopathic trachyonychia", "ORPHA:79152": "Disseminated superficial actinic porokeratosis", "ORPHA:79151": "Acrokeratosis verruciformis of Hopf", "ORPHA:79150": "Linear and whorled nevoid hypermelanosis", "ORPHA:79149": "Dermochondrocorneal dystrophy", "ORPHA:79148": "Elastosis perforans serpiginosa", "ORPHA:79147": "Familial reactive perforating collagenosis", "ORPHA:79146": "Familial progressive hyperpigmentation", "ORPHA:79145": "Dowling-Degos disease", "ORPHA:79144": "Isolated congenital onychodysplasia", "ORPHA:79143": "Isolated congenital anonychia", "ORPHA:79142": "NON RARE IN EUROPE: Familial Dupuytren contracture", "ORPHA:79172": "Creatine deficiency syndrome", "ORPHA:79173": "Disorder of methionine cycle and sulfur amino acid metabolism", "ORPHA:79171": "Disorder of cobalamin metabolism and transport", "ORPHA:79168": "Disorder of bile acid synthesis", "ORPHA:79169": "Disorder of neurotransmitter metabolism and transport", "ORPHA:79166": "Disorder of amino acid absorption and transport", "ORPHA:79167": "Disorder of urea cycle metabolism and ammonia detoxification", "ORPHA:79163": "Classic organic aciduria", "ORPHA:79161": "Disorder of carbohydrate metabolism", "ORPHA:79158": "Cerebral organic aciduria", "ORPHA:79159": "Isobutyryl-CoA dehydrogenase deficiency", "ORPHA:79107": "Developmental malformations-deafness-dystonia syndrome", "ORPHA:566231": "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha", "ORPHA:79106": "Eiken syndrome", "ORPHA:566243": "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta", "ORPHA:79118": "Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome", "ORPHA:566393": "Acute mast cell leukemia", "ORPHA:79113": "Mandibulofacial dysostosis-microcephaly syndrome", "ORPHA:79102": "Thyrotoxic periodic paralysis", "ORPHA:79105": "Myxofibrosarcoma", "ORPHA:79099": "Interstitial granulomatous dermatitis with arthritis", "ORPHA:79098": "Sympathetic ophthalmia", "ORPHA:79101": "Hyperprolinemia type 2", "ORPHA:566192": "Congenital autosomal recessive small-platelet thrombocytopenia", "ORPHA:79100": "Atrophoderma vermiculata", "ORPHA:79095": "Congenital bile acid synthesis defect type 4", "ORPHA:79094": "Grange syndrome", "ORPHA:566175": "Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome", "ORPHA:79097": "Folinic acid-responsive seizures", "ORPHA:79096": "Pyridoxal phosphate-responsive seizures", "ORPHA:79138": "Bickerstaff brainstem encephalitis", "ORPHA:79139": "Japanese encephalitis", "ORPHA:79140": "Cutaneous neuroendocrine carcinoma", "ORPHA:79141": "Hereditary painful callosities", "ORPHA:79134": "DEND syndrome", "ORPHA:79135": "Episodic ataxia type 3", "ORPHA:79136": "Episodic ataxia type 4", "ORPHA:79137": "Generalized epilepsy-paroxysmal dyskinesia syndrome", "ORPHA:79129": "Trichodysplasia-amelogenesis imperfecta syndrome", "ORPHA:79132": "OBSOLETE: Sparse hair-short stature-skin anomalies syndrome", "ORPHA:79133": "Focal facial dermal dysplasia type I", "ORPHA:79124": "Hepatic veno-occlusive disease-immunodeficiency syndrome", "ORPHA:566396": "Chronic mast cell leukemia", "ORPHA:79126": "Acute interstitial pneumonia", "ORPHA:79127": "Respiratory bronchiolitis-interstitial lung disease syndrome", "ORPHA:79128": "Lymphoid interstitial pneumonia", "ORPHA:77293": "Chronic visceral acid sphingomyelinase deficiency", "ORPHA:77295": "Odontoleukodystrophy", "ORPHA:77261": "Gaucher disease type 3", "ORPHA:77292": "Infantile neurovisceral acid sphingomyelinase deficiency", "ORPHA:77298": "Anophthalmia/microphthalmia-esophageal atresia syndrome", "ORPHA:77299": "Microphthalmia-brain atrophy syndrome", "ORPHA:77296": "Morgagni-Stewart-Morel syndrome", "ORPHA:77297": "Majeed syndrome", "ORPHA:77302": "Oculo-oto-facial dysplasia", "ORPHA:77303": "OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect", "ORPHA:567502": "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome", "ORPHA:77300": "Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome", "ORPHA:77301": "Monosomy 9q22.3 syndrome", "ORPHA:567550": "Idiopathic multidrug-resistant nephrotic syndrome", "ORPHA:77828": "Genetic obesity", "ORPHA:567548": "Idiopathic steroid-resistant nephrotic syndrome", "ORPHA:567546": "Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance", "ORPHA:77304": "OBSOLETE: Not NOTCH3-related small vessel disease of the brain", "ORPHA:567544": "Idiopathic non-lupus full-house nephropathy", "ORPHA:567556": "Genetic systemic disease with glomerulopathy as a major feature", "ORPHA:79022": "Simpson-Golabi-Behmel syndrome type 2", "ORPHA:567558": "Non-genetic systemic disease with glomerulopathy as a major feature", "ORPHA:567552": "Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy", "ORPHA:567554": "Systemic disease with glomerulopathy as a major feature", "ORPHA:77830": "Rare genetic odontologic disease", "ORPHA:567564": "Nephrotic syndrome without extrarenal manifestations", "ORPHA:79083": "PPARG-related familial partial lipodystrophy", "ORPHA:79078": "IgG4-related dacryoadenitis and sialadenitis", "ORPHA:567560": "Systemic vasculitis associated with glomerulopathy", "ORPHA:79076": "Juvenile polyposis of infancy", "ORPHA:567562": "Disorder with multisystemic involvement and glomerulopathy", "ORPHA:79062": "Disorder of amino acid and other organic acid metabolism", "ORPHA:79087": "Acquired partial lipodystrophy", "ORPHA:79086": "Acquired generalized lipodystrophy", "ORPHA:79085": "AKT2-related familial partial lipodystrophy", "ORPHA:79084": "Familial partial lipodystrophy, Köbberling type", "ORPHA:567983": "Parenteral nutrition-associated cholestasis", "ORPHA:79093": "Foix-Alajouanine syndrome", "ORPHA:568041": "Primary lymphedema without systemic or visceral involvement", "ORPHA:79091": "Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome", "ORPHA:79088": "Localized lipodystrophy", "ORPHA:75327": "North Carolina macular dystrophy", "ORPHA:75373": "Progressive bifocal chorioretinal atrophy", "ORPHA:75374": "Bradyopsia", "ORPHA:75376": "Familial drusen", "ORPHA:75377": "Central areolar choroidal dystrophy", "ORPHA:75378": "Oligocone trichromacy", "ORPHA:75381": "Cystoid macular dystrophy", "ORPHA:75382": "Oguchi disease", "ORPHA:566847": "Aprosencephaly/atelencephaly spectrum", "ORPHA:75389": "Brain malformation-congenital heart disease-postaxial polydactyly syndrome", "ORPHA:566841": "Liver adenomatosis", "ORPHA:75391": "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency", "ORPHA:566857": "Aprosencephaly", "ORPHA:75392": "Periodontal Ehlers-Danlos syndrome", "ORPHA:566852": "Atelencephaly", "ORPHA:75496": "B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome", "ORPHA:75497": "X-linked Ehlers-Danlos syndrome", "ORPHA:566862": "Left sided atrial isomerism", "ORPHA:75501": "OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type", "ORPHA:75508": "Angioosteohypotrophic syndrome", "ORPHA:75563": "X-linked sideroblastic anemia", "ORPHA:566943": "Mueller-Weiss syndrome", "ORPHA:75565": "Tropical endomyocardial fibrosis", "ORPHA:75564": "Acquired idiopathic sideroblastic anemia", "ORPHA:75567": "Primary progressive freezing gait", "ORPHA:75566": "Loeffler endocarditis", "ORPHA:75790": "Pollitt syndrome", "ORPHA:75789": "SIBIDS syndrome", "ORPHA:75857": "6q terminal deletion syndrome", "ORPHA:75840": "Ullrich congenital muscular dystrophy", "ORPHA:77240": "Primary lymphedema", "ORPHA:75858": "MORM syndrome", "ORPHA:77242": "OBSOLETE: Lymphedema tarda", "ORPHA:77241": "OBSOLETE: Lymphedema praecox", "ORPHA:77258": "Trichorhinophalangeal syndrome type 1", "ORPHA:77243": "NON RARE IN EUROPE: Lipedema", "ORPHA:77260": "Gaucher disease type 2", "ORPHA:77259": "Gaucher disease type 1", "ORPHA:73271": "Bleeding diathesis due to a collagen receptor defect", "ORPHA:73263": "Zygomycosis", "ORPHA:73267": "Non-24-hour sleep-wake syndrome", "ORPHA:73256": "Central neurocytoma", "ORPHA:73260": "Paracoccidioidomycosis", "ORPHA:73246": "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome", "ORPHA:73247": "NON RARE IN EUROPE: Eosinophilic esophagitis", "ORPHA:569821": "Congenital primary lymphedema of Gordon", "ORPHA:73423": "Acute ackee fruit intoxication", "ORPHA:569816": "CELSR1-related late-onset primary lymphedema", "ORPHA:73274": "OBSOLETE: Acquired hemophilia", "ORPHA:73272": "Growth delay due to insulin-like growth factor type 1 deficiency", "ORPHA:73273": "Growth delay due to insulin-like growth factor I resistance", "ORPHA:75326": "Familial isolated retinal arteriolar tortuosity", "ORPHA:75325": "Osteosclerosis-ichthyosis-premature ovarian failure syndrome", "ORPHA:75249": "Familial isolated restrictive cardiomyopathy", "ORPHA:75234": "Cholesteryl ester storage disease", "ORPHA:75233": "Wolman disease", "ORPHA:75110": "Myiasis", "ORPHA:568065": "EPHB4-related lymphatic-related hydrops fetalis", "ORPHA:71290": "Familial platelet disorder with associated myeloid malignancy", "ORPHA:568062": "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis", "ORPHA:71291": "Hereditary vascular retinopathy", "ORPHA:71493": "Familial thrombocytosis", "ORPHA:71505": "Cancer-associated retinopathy", "ORPHA:568047": "Disorder with multisystemic involvement and primary lymphedema", "ORPHA:568044": "Primary lymphedema with systemic or visceral involvement", "ORPHA:568056": "Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome", "ORPHA:568051": "GJC2-related late-onset primary lymphedema", "ORPHA:71289": "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome", "ORPHA:71526": "Obesity due to pro-opiomelanocortin deficiency", "ORPHA:71528": "Obesity due to prohormone convertase I deficiency", "ORPHA:71529": "Obesity due to melanocortin 4 receptor deficiency", "ORPHA:569164": "Angiomatoid fibrous histiocytoma", "ORPHA:71516": "OBSOLETE: Mixed dystonia", "ORPHA:71517": "Rapid-onset dystonia-parkinsonism", "ORPHA:71518": "Benign paroxysmal torticollis of infancy", "ORPHA:71519": "Psychogenic movement disorders", "ORPHA:569274": "Multiple mitochondrial dysfunctions syndrome type 5", "ORPHA:71862": "Inherited retinal disorder", "ORPHA:569290": "Multiple mitochondrial dysfunctions syndrome type 6", "ORPHA:71864": "Muscular channelopathy", "ORPHA:71859": "Rare genetic neurological disorder", "ORPHA:569248": "Microcystic stromal tumor", "ORPHA:73229": "HANAC syndrome", "ORPHA:73224": "Kidney tubulopathy-dilated cardiomyopathy syndrome", "ORPHA:73245": "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome", "ORPHA:73230": "Ossification anomalies-psychomotor developmental delay syndrome", "ORPHA:73217": "Müllerian aplasia", "ORPHA:73014": "Intractable diarrhea of infancy", "ORPHA:73223": "Global developmental delay-osteopenia-ectodermal defect syndrome", "ORPHA:73220": "X-linked intellectual disability-hypotonic face syndrome", "ORPHA:40366": "Acitretin/etretinate embryopathy", "ORPHA:40923": "Eales disease", "ORPHA:39812": "Graft versus host disease", "ORPHA:40050": "NON RARE IN EUROPE: Psoriatic arthritis", "ORPHA:530849": "Familial apolipoprotein A5 deficiency", "ORPHA:39041": "Omenn syndrome", "ORPHA:530838": "KRT1-related diffuse nonepidermolytic keratoderma", "ORPHA:39044": "Uveal melanoma", "ORPHA:530792": "RELA fusion-positive ependymoma", "ORPHA:38874": "Dihydropyrimidinuria", "ORPHA:37748": "Schnitzler syndrome", "ORPHA:530313": "PIK3CA-related overgrowth syndrome", "ORPHA:530303": "Progressive dementia with neuroserpin inclusion bodies", "ORPHA:37629": "Neonatal neutropenia", "ORPHA:37612": "Episodic ataxia type 1", "ORPHA:37559": "Acquired kinky hair syndrome", "ORPHA:530298": "Progressive myoclonic epilepsy with neuroserpin inclusion bodies", "ORPHA:37553": "Andersen-Tawil syndrome", "ORPHA:37202": "Interstitial cystitis", "ORPHA:37042": "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "ORPHA:36913": "Autoimmune hypoparathyroidism", "ORPHA:36899": "Myoclonus-dystonia syndrome", "ORPHA:68354": "Rare sleep disorder", "ORPHA:68356": "Leukodystrophy", "ORPHA:68346": "Rare genetic skin disease", "ORPHA:68347": "Tumor of hematopoietic and lymphoid tissues", "ORPHA:68341": "Multiple congenital anomalies/dysmorphic syndrome", "ORPHA:68334": "Rare hemorrhagic disorder due to a constitutional coagulation factors defect", "ORPHA:68336": "Rare genetic tumor", "ORPHA:531151": "9q21.13 microdeletion syndrome", "ORPHA:68335": "Rare chromosomal anomaly", "ORPHA:68329": "Rare maxillo-facial surgical disease", "ORPHA:530983": "Lamb-Shaffer syndrome", "ORPHA:530995": "Mixed phenotype acute leukemia", "ORPHA:41842": "NON RARE IN EUROPE: Fibromyalgia", "ORPHA:41751": "Bietti crystalline dystrophy", "ORPHA:42062": "Iminoglycinuria", "ORPHA:35705": "Neurometabolic disorder due to serine deficiency", "ORPHA:35706": "Glutaric acidemia type 3", "ORPHA:35704": "L-Arginine:glycine amidinotransferase deficiency", "ORPHA:35710": "Glucose-galactose malabsorption", "ORPHA:35737": "Morning glory disc anomaly", "ORPHA:35708": "Aromatic L-amino acid decarboxylase deficiency", "ORPHA:35696": "Mitochondrial disorder due to a defect in mitochondrial protein synthesis", "ORPHA:35688": "OBSOLETE: Madelung deformity", "ORPHA:35689": "Primary lateral sclerosis", "ORPHA:35701": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency", "ORPHA:35698": "Mitochondrial DNA depletion syndrome", "ORPHA:35612": "Nanophthalmos", "ORPHA:35173": "X-linked dominant chondrodysplasia punctata", "ORPHA:35687": "Erdheim-Chester disease", "ORPHA:35686": "Serpiginous choroiditis", "ORPHA:35664": "ALDH18A1-related De Barsy syndrome", "ORPHA:35656": "Coenzyme Q10 deficiency", "ORPHA:35120": "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency", "ORPHA:35107": "Desmosterolosis", "ORPHA:35099": "Non-syndromic bicoronal craniosynostosis", "ORPHA:35098": "OBSOLETE: Isolated plagiocephaly", "ORPHA:35125": "Epidermal nevus syndrome", "ORPHA:35123": "OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "ORPHA:35122": "Congenital sucrase-isomaltase deficiency", "ORPHA:35121": "Lysosomal acid phosphatase deficiency", "ORPHA:36387": "Genetic epilepsy with febrile seizure plus", "ORPHA:36388": "Paraneoplastic neurologic syndrome", "ORPHA:36397": "Adiposis dolorosa", "ORPHA:36412": "Hypocomplementemic urticarial vasculitis", "ORPHA:36414": "OBSOLETE: Brain stem tumor", "ORPHA:36426": "Stevens-Johnson syndrome", "ORPHA:36297": "NON RARE IN EUROPE: Anorexia nervosa", "ORPHA:36355": "Bleeding disorder due to P2Y12 defect", "ORPHA:36367": "Distal deletion 1q syndrome", "ORPHA:36382": "OBSOLETE : Familial cervical artery dissection", "ORPHA:36383": "COL4A1/2-related familial vascular leukoencephalopathy", "ORPHA:36386": "Hereditary sensory and autonomic neuropathy type 1", "ORPHA:36234": "Bacterial toxic-shock syndrome", "ORPHA:36205": "OBSOLETE: Collagenous colitis", "ORPHA:36236": "Staphylococcal scalded skin syndrome", "ORPHA:36235": "Staphylococcal scarlet fever", "ORPHA:36238": "Staphylococcal necrotizing pneumonia", "ORPHA:36237": "Bullous impetigo", "ORPHA:36273": "Gastric linitis plastica", "ORPHA:36258": "Buerger disease", "ORPHA:35808": "Malignant sex cord stromal tumor of ovary", "ORPHA:35807": "Malignant germ cell tumor of ovary", "ORPHA:35878": "Hyperinsulinism-hyperammonemia syndrome", "ORPHA:35858": "Imerslund-Gräsbeck syndrome", "ORPHA:35909": "Combined deficiency of factor V and factor VIII", "ORPHA:35889": "Acute opioid intoxication", "ORPHA:36204": "Intestinal lymphangiectasia", "ORPHA:35981": "Polymicrogyria", "ORPHA:33572": "5-oxoprolinase deficiency", "ORPHA:33543": "Kleine-Levin syndrome", "ORPHA:33475": "Meningococcal meningitis", "ORPHA:33445": "Neuroectodermal melanolysosomal disease", "ORPHA:33409": "NON RARE IN EUROPE: Lichen sclerosus", "ORPHA:33408": "Bullous lichen planus", "ORPHA:535458": "Familial GPIHBP1 deficiency", "ORPHA:33402": "Pediatric hepatocellular carcinoma", "ORPHA:34412": "NON RARE IN EUROPE: HAIR-AN syndrome", "ORPHA:34217": "Naxos disease", "ORPHA:34149": "Autosomal dominant tubulointerstitial kidney disease", "ORPHA:34145": "Immunoglobulin A nephropathy", "ORPHA:33577": "Nodular non-suppurative panniculitis", "ORPHA:33574": "Glutamate-cysteine ligase deficiency", "ORPHA:33573": "Gamma-glutamyl transpeptidase deficiency", "ORPHA:33110": "Autosomal agammaglobulinemia", "ORPHA:33111": "Granulomatous slack skin", "ORPHA:33108": "Lethal multiple pterygium syndrome", "ORPHA:33067": "Metaphyseal chondrodysplasia, Jansen type", "ORPHA:33069": "Dravet syndrome", "ORPHA:33001": "Lymphedema-distichiasis syndrome", "ORPHA:33355": "Reticular dysgenesis", "ORPHA:535453": "Familial lipase maturation factor 1 deficiency", "ORPHA:33364": "Trichothiodystrophy", "ORPHA:33276": "Kaposi sarcoma", "ORPHA:33314": "Jessner lymphocytic infiltration of the skin", "ORPHA:33271": "NON RARE IN EUROPE: Non-alcoholic fatty liver disease", "ORPHA:33208": "Idiopathic hypersomnia", "ORPHA:33226": "Waldenström macroglobulinemia", "ORPHA:35061": "OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes", "ORPHA:35056": "NON RARE IN EUROPE: Trimethylaminuria", "ORPHA:35069": "Infantile neuroaxonal dystrophy", "ORPHA:35066": "NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis", "ORPHA:35093": "Non-syndromic sagittal craniosynostosis", "ORPHA:35078": "T-B+ severe combined immunodeficiency due to JAK3 deficiency", "ORPHA:35063": "Fulminant viral hepatitis", "ORPHA:35062": "Severe disseminated cytomegalovirus infection in immunocompetent patients", "ORPHA:35065": "OBSOLETE: Idiopathic severe pneumococcemia", "ORPHA:35064": "OBSOLETE: Lethal idiopathic viral infection", "ORPHA:34520": "Congenital muscular dystrophy with integrin alpha-7 deficiency", "ORPHA:34521": "Distal myopathy with early respiratory muscle involvement", "ORPHA:34514": "Telethonin-related limb-girdle muscular dystrophy R7", "ORPHA:34515": "FKRP-related limb-girdle muscular dystrophy R9", "ORPHA:34516": "DNAJB6-related limb-girdle muscular dystrophy D1", "ORPHA:34517": "Autosomal dominant limb-girdle muscular dystrophy type 1E", "ORPHA:34587": "Danon disease", "ORPHA:34592": "Immunodeficiency by defective expression of MHC class I", "ORPHA:34526": "OBSOLETE: Genetic primary hypomagnesemia", "ORPHA:34527": "OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia", "ORPHA:34528": "Autosomal dominant primary hypomagnesemia with hypocalciuria", "ORPHA:34533": "Corneal dystrophy", "ORPHA:536391": "RASopathy", "ORPHA:536516": "Myopathic Ehlers-Danlos syndrome", "ORPHA:536471": "Spondylodysplastic Ehlers-Danlos syndrome", "ORPHA:536467": "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome", "ORPHA:536545": "Kyphoscoliotic Ehlers-Danlos syndrome", "ORPHA:536532": "Classical-like Ehlers-Danlos syndrome type 2", "ORPHA:537072": "PLG-related hereditary angioedema with normal C1Inh", "ORPHA:32960": "Tumor necrosis factor receptor 1 associated periodic syndrome", "ORPHA:52662": "Rare teratologic disease", "ORPHA:52530": "Pseudo-von Willebrand disease", "ORPHA:52688": "Myelodysplastic syndrome", "ORPHA:52429": "Branchiootic syndrome", "ORPHA:537891": "OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh", "ORPHA:52428": "Congenital muscular dystrophy type 1C", "ORPHA:538096": "Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy", "ORPHA:52503": "X-linked creatine transporter deficiency", "ORPHA:538101": "Congenital axonal neuropathy with encephalopathy", "ORPHA:538238": "Neurological channelopathy of the central nervous system due to a genetic chloride channel defect", "ORPHA:52430": "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia", "ORPHA:52416": "Mantle cell lymphoma", "ORPHA:52427": "Retinitis punctata albescens", "ORPHA:52417": "MALT lymphoma", "ORPHA:52056": "Ulnar/fibula ray defect-brachydactyly syndrome", "ORPHA:52055": "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome", "ORPHA:52368": "Mohr-Tranebjaerg syndrome", "ORPHA:52183": "Premature chromosome condensation with microcephaly and intellectual disability", "ORPHA:53271": "Muenke syndrome", "ORPHA:53296": "Familial cutaneous collagenoma", "ORPHA:53347": "Brody myopathy", "ORPHA:52994": "Orbital leiomyoma", "ORPHA:53035": "Caroli disease", "ORPHA:52759": "Vasculitis", "ORPHA:52901": "Isolated follicle stimulating hormone deficiency", "ORPHA:53690": "Congenital lactase deficiency", "ORPHA:53689": "Congenital chloride diarrhea", "ORPHA:538863": "Classic pyoderma gangrenosum", "ORPHA:538756": "Familial multiple discoid fibromas", "ORPHA:538574": "Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome", "ORPHA:53583": "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity", "ORPHA:53540": "Goldmann-Favre syndrome", "ORPHA:53372": "Hereditary geniospasm", "ORPHA:53351": "X-linked dystonia-parkinsonism", "ORPHA:54260": "Left ventricular noncompaction", "ORPHA:54247": "Posterior cortical atrophy", "ORPHA:538934": "X-linked lymphoproliferative disease due to XIAP deficiency", "ORPHA:54251": "Aseptic abscess syndrome", "ORPHA:538931": "X-linked lymphoproliferative disease due to SAP deficiency", "ORPHA:54057": "Thrombotic thrombocytopenic purpura", "ORPHA:54238": "Myotonic dystrophy type 3", "ORPHA:53739": "Distal hereditary motor neuropathy", "ORPHA:54028": "Plummer-Vinson syndrome", "ORPHA:53719": "Wyburn-Mason syndrome", "ORPHA:53721": "Spinal arteriovenous metameric syndrome", "ORPHA:53698": "Myosin storage myopathy", "ORPHA:53715": "Familial tumoral calcinosis", "ORPHA:53696": "Arthrogryposis-anterior horn cell disease syndrome", "ORPHA:538872": "Vegetative pyoderma gangrenosum", "ORPHA:53697": "Gnathodiaphyseal dysplasia", "ORPHA:53691": "Congenital cornea plana", "ORPHA:538869": "Bullous pyoderma gangrenosum", "ORPHA:538866": "Pustular pyoderma gangrenosum", "ORPHA:53693": "GRACILE syndrome", "ORPHA:48818": "Aceruloplasminemia", "ORPHA:48736": "Embryonal carcinoma of the central nervous system", "ORPHA:49041": "IgG4-related retroperitoneal fibrosis", "ORPHA:48918": "Focal myositis", "ORPHA:49382": "Achromatopsia", "ORPHA:49042": "Dentinogenesis imperfecta", "ORPHA:538958": "Combined immunodeficiency due to CD70 deficiency", "ORPHA:48431": "Congenital cataracts-facial dysmorphism-neuropathy syndrome", "ORPHA:538963": "Combined immunodeficiency due to ITK deficiency", "ORPHA:48471": "Lissencephaly", "ORPHA:48435": "Postinfectious vasculitis", "ORPHA:48686": "Primary effusion lymphoma", "ORPHA:48652": "Phelan-McDermid syndrome", "ORPHA:50809": "Talo-patello-scaphoid osteolysis", "ORPHA:50810": "Microlissencephaly-micromelia syndrome", "ORPHA:50811": "Lipodystrophy-intellectual disability-deafness syndrome", "ORPHA:50812": "Zellweger-like syndrome without peroxisomal anomalies", "ORPHA:50814": "Craniolenticulosutural dysplasia", "ORPHA:50815": "Branchiogenic deafness syndrome", "ORPHA:50816": "Spondylometaphyseal dysplasia with combined immunodeficiency", "ORPHA:49566": "Acquired purpura fulminans", "ORPHA:49804": "Lichen amyloidosis", "ORPHA:49827": "Thiamine-responsive megaloblastic anemia syndrome", "ORPHA:50251": "Pleural mesothelioma", "ORPHA:50945": "Blomstrand lethal chondrodysplasia", "ORPHA:50944": "Schöpf-Schulz-Passarge syndrome", "ORPHA:51084": "Torsade-de-pointes syndrome with short coupling interval", "ORPHA:51083": "Familial short QT syndrome", "ORPHA:51013": "OBSOLETE: Melanoma-pancreatic cancer syndrome", "ORPHA:50839": "Cat-scratch disease", "ORPHA:50838": "NON RARE IN EUROPE: Carpal tunnel syndrome", "ORPHA:50817": "Duane anomaly-myopathy-scoliosis syndrome", "ORPHA:50943": "Keratolytic winter erythema", "ORPHA:50942": "Striate palmoplantar keratoderma", "ORPHA:50920": "OBSOLETE: Multiple fibroadenoma of the breast", "ORPHA:50918": "Kikuchi-Fujimoto disease", "ORPHA:52054": "Craniosynostosis-intracranial calcifications syndrome", "ORPHA:52022": "Potocki-Shaffer syndrome", "ORPHA:52047": "Braddock syndrome", "ORPHA:51577": "Cobblestone lissencephaly", "ORPHA:51608": "Generalized arterial calcification of infancy", "ORPHA:51188": "Ethylmalonic encephalopathy", "ORPHA:541423": "Growth delay-intellectual disability-hepatopathy syndrome", "ORPHA:51208": "Formiminoglutamic aciduria", "ORPHA:541507": "Anomalous origin of coronary artery from the pulmonary artery", "ORPHA:541478": "Anomalous aortic origin of coronary artery", "ORPHA:51636": "WHIM syndrome", "ORPHA:541454": "Anomalous aortic origin of the right coronary artery", "ORPHA:51890": "Anterior cutaneous nerve entrapment syndrome", "ORPHA:541443": "Anomalous aortic origin of the left coronary artery", "ORPHA:542306": "GNB5-related intellectual disability-cardiac arrhythmia syndrome", "ORPHA:542301": "Combined immunodeficiency due to CARMIL2 deficiency", "ORPHA:542310": "Leukoencephalopathy with calcifications and cysts", "ORPHA:68419": "Rare vascular anomaly", "ORPHA:42642": "PFAPA syndrome", "ORPHA:42665": "Tietz syndrome", "ORPHA:542323": "CAR T cell therapy-associated cytokine release syndrome", "ORPHA:43117": "Acute tricyclic antidepressant poisoning", "ORPHA:542585": "Auditory neuropathy-optic atrophy syndrome", "ORPHA:43116": "Serotonin syndrome", "ORPHA:542592": "Necrobiosis lipoidica", "ORPHA:43393": "Lambert-Eaton myasthenic syndrome", "ORPHA:43119": "Acute poisoning by drugs with membrane-stabilizing effect", "ORPHA:542643": "Livedoid vasculopathy", "ORPHA:42775": "PHACE syndrome", "ORPHA:42738": "Severe congenital neutropenia", "ORPHA:43115": "Hereditary myopathy with lactic acidosis due to ISCU deficiency", "ORPHA:542568": "Quadricuspid aortic valve", "ORPHA:45448": "Miyoshi myopathy", "ORPHA:543470": "Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome", "ORPHA:45453": "Incessant infant ventricular tachycardia", "ORPHA:45452": "Idiopathic neonatal atrial flutter", "ORPHA:542657": "Isolated hyperchlorhidrosis", "ORPHA:542822": "Anomaly of the coronary ostia", "ORPHA:44890": "Gastrointestinal stromal tumor", "ORPHA:45360": "NON RARE IN EUROPE: Menière disease", "ORPHA:45358": "Congenital fibrosis of extraocular muscles", "ORPHA:46487": "Epidermolysis bullosa acquisita", "ORPHA:544254": "SYNGAP1-related developmental and epileptic encephalopathy", "ORPHA:46488": "Linear IgA dermatosis", "ORPHA:46485": "Superficial pemphigus", "ORPHA:46486": "Mucous membrane pemphigoid", "ORPHA:46348": "Paroxysmal extreme pain disorder", "ORPHA:46484": "Oligodendroglial tumor", "ORPHA:46059": "Lathosterolosis", "ORPHA:46135": "Primary central nervous system lymphoma", "ORPHA:544458": "Hemolytic uremic syndrome", "ORPHA:47044": "Hereditary papillary renal cell carcinoma", "ORPHA:46724": "Cerebral arteriovenous malformation", "ORPHA:46627": "Char syndrome", "ORPHA:46658": "Primordial short stature-microdontia-opalescent and rootless teeth syndrome", "ORPHA:46489": "OBSOLETE: Bullous systemic lupus erythematosus", "ORPHA:46532": "Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome", "ORPHA:48372": "Nodular regenerative hyperplasia of the liver", "ORPHA:48162": "Lewis-Sumner syndrome", "ORPHA:544493": "Streptococcus pneumoniae-associated hemolytic uremic syndrome", "ORPHA:48104": "Pyoderma gangrenosum", "ORPHA:544503": "RNF13-related severe early-onset epileptic encephalopathy", "ORPHA:47612": "Felty syndrome", "ORPHA:544482": "Infection-related hemolytic uremic syndrome", "ORPHA:47159": "Proximal renal tubular acidosis", "ORPHA:544488": "Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome", "ORPHA:544469": "PRUNE1-related neurological syndrome", "ORPHA:544472": "Atypical hemolytic uremic syndrome with complement gene abnormality", "ORPHA:47045": "Familial cold urticaria", "ORPHA:544628": "Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome", "ORPHA:544590": "Collagen-related glomerular basement membrane disease", "ORPHA:544602": "Congenital myopathy with reduced type 2 muscle fibers", "ORPHA:48377": "Subcorneal pustular dermatosis", "ORPHA:544578": "Congenital primary megaureter, refluxing and obstructed form", "ORPHA:68361": "Rare deafness", "ORPHA:68362": "Rare vascular disease", "ORPHA:68363": "Rare dystonia", "ORPHA:555402": "NAD(P)HX dehydratase deficiency", "ORPHA:68364": "Hemoglobinopathy", "ORPHA:555434": "Fibrohistiocytic inflammatory pseudotumor of the liver", "ORPHA:555407": "NAD(P)HX epimerase deficiency", "ORPHA:68366": "Lysosomal disease", "ORPHA:68367": "Rare inborn errors of metabolism", "ORPHA:555437": "Lymphoplasmacytic inflammatory pseudotumor of the liver", "ORPHA:68373": "Peroxisomal disease", "ORPHA:555874": "Congenital tricuspid valve dysplasia", "ORPHA:68378": "Congenital limb malformation", "ORPHA:555877": "FLNA-related X-linked myxomatous valvular dysplasia", "ORPHA:68381": "Neuromuscular disease", "ORPHA:555905": "IgA pemphigus", "ORPHA:68380": "Mitochondrial disease", "ORPHA:68383": "Rare constitutional aplastic anemia", "ORPHA:556030": "Early-onset familial hypoaldosteronism", "ORPHA:68385": "Neurometabolic disease", "ORPHA:556037": "Late-onset familial hypoaldosteronism", "ORPHA:68388": "OBSOLETE: Neurofibromatosis", "ORPHA:556985": "Early-onset calcifying leukoencephalopathy-skeletal dysplasia", "ORPHA:556955": "Pancreatic agenesis-holoprosencephaly syndrome", "ORPHA:556508": "Rare disorder due to poisoning", "ORPHA:68402": "Rare parkinsonian disorder", "ORPHA:557064": "Neonatal epileptic encephalopathy due to glutaminase deficiency", "ORPHA:557056": "Spastic ataxia-dysarthria due to glutaminase deficiency", "ORPHA:557003": "Oculoskeletodental syndrome", "ORPHA:68411": "Rare bone tumor", "ORPHA:68416": "Rare infectious disease", "ORPHA:68415": "Rare parathyroid disease and phosphocalcic metabolism anomaly", "ORPHA:90065": "Acquired aneurysmal subarachnoid hemorrhage", "ORPHA:519392": "Isolated iridoschisis", "ORPHA:90066": "Pneumonia caused by Pseudomonas aeruginosa infection", "ORPHA:519390": "Isolated blepharochalasis", "ORPHA:519396": "Isolated microspherophakia", "ORPHA:90068": "Cocaine intoxication", "ORPHA:519394": "OBSOLETE: Isolated microphakia", "ORPHA:90061": "Non-infectious posterior uveitis", "ORPHA:519384": "Congenital cystic eye", "ORPHA:519357": "OBSOLETE: Syndromic malformation of the optic disc", "ORPHA:90062": "Acute liver failure", "ORPHA:519388": "Autosomal recessive anterior segment dysgenesis", "ORPHA:90064": "Acute peripheral arterial occlusion", "ORPHA:519386": "Isolated congenital entropion", "ORPHA:90073": "Hepatitis B reinfection following liver transplantation", "ORPHA:519408": "Mooren ulcer", "ORPHA:519406": "Thygeson superficial punctate keratitis", "ORPHA:519410": "Terrien marginal degeneration", "ORPHA:90076": "Partial deep dermal and full thickness burns", "ORPHA:90069": "Systemic monochloroacetate poisoning", "ORPHA:519400": "Peripapillary staphyloma", "ORPHA:90070": "OBSOLETE: Methotrexate poisoning", "ORPHA:519398": "Isolated foveal hypoplasia", "ORPHA:519404": "Optic disc pit", "ORPHA:519402": "Isolated megalopapilla", "ORPHA:90050": "Retinopathy of prematurity", "ORPHA:519333": "Congenital optic disc excavation", "ORPHA:519335": "OBSOLETE: Inflammatory/autoimmune optic neuropathy", "ORPHA:90045": "Hereditary folate malabsorption", "ORPHA:90052": "Recurrent hepatitis C virus induced liver disease in liver transplant recipients", "ORPHA:519337": "Disorder with optic nerve compression", "ORPHA:90051": "Sepsis in premature infants", "ORPHA:519339": "Pseudopapilledema", "ORPHA:519325": "Syndromic inherited retinal disorder", "ORPHA:90041": "Gaisböck syndrome", "ORPHA:519327": "Syndromic vitreoretinopathy", "ORPHA:90039": "Hemoglobin D disease", "ORPHA:519329": "Rare disorder involving multiple structures of the eye", "ORPHA:90044": "Familial pseudohyperkalemia", "ORPHA:519331": "Secondary early-onset glaucoma", "ORPHA:90042": "Primary familial polycythemia", "ORPHA:90058": "Spinal cord injury", "ORPHA:519349": "Rare ophthalmic disorder with cranial nerve involvement", "ORPHA:519351": "Rare optic nerve disorder", "ORPHA:519353": "Rare trochlear nerve disorder", "ORPHA:90060": "Diffuse alveolar hemorrhage", "ORPHA:519355": "Rare ocular motility/alignment disorder", "ORPHA:90059": "Sudden sensorineural hearing loss", "ORPHA:519341": "Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature", "ORPHA:519343": "Rare ophthalmic disorder with cortical involvement", "ORPHA:90053": "Complications after hematopoietic stem cell transplantation", "ORPHA:519345": "Rare disorder with optic disc malformation", "ORPHA:90056": "Moderate and severe traumatic brain injury", "ORPHA:519347": "Rare neuromuscular disorder with ocular motility/alignment anomaly", "ORPHA:90055": "OBSOLETE: Rejection after corneal transplantation", "ORPHA:90024": "Deafness with labyrinthine aplasia, microtia, and microdontia", "ORPHA:519306": "Isolated progressive inherited retinal disorder", "ORPHA:90025": "Non-syndromic syndactyly", "ORPHA:519304": "Isolated vitreoretinopathy", "ORPHA:90022": "OBSOLETE: Cardiomyopathy-renal anomalies syndrome", "ORPHA:519302": "Isolated macular dystrophy", "ORPHA:90023": "Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency", "ORPHA:519300": "Isolated chorioretinal dystrophy", "ORPHA:519298": "Rare scleral disorder", "ORPHA:90020": "Parkinson-dementia complex of Guam", "ORPHA:519296": "Rare disorder with pigmented sclera", "ORPHA:90021": "Radiation myelitis", "ORPHA:90002": "Undifferentiated connective tissue syndrome", "ORPHA:519294": "Syndromic microspherophakia", "ORPHA:519292": "Syndromic ectopia lentis", "ORPHA:90003": "Inflammatory pseudotumor of the liver", "ORPHA:519323": "Syndromic macular dystrophy", "ORPHA:90037": "Drug-induced autoimmune hemolytic anemia", "ORPHA:519321": "Syndromic chorioretinal dystrophy", "ORPHA:90038": "Shiga toxin-associated hemolytic uremic syndrome", "ORPHA:90035": "Paroxysmal cold hemoglobinuria", "ORPHA:519319": "Isolated stationary inherited retinal disorder", "ORPHA:519317": "Rare retinal vasculopathy", "ORPHA:90036": "Mixed-type autoimmune hemolytic anemia", "ORPHA:519315": "Rare retinal disorder", "ORPHA:90031": "Non-spherocytic hemolytic anemia due to hexokinase deficiency", "ORPHA:519313": "Rare macular disorder", "ORPHA:90033": "Autoimmune hemolytic anemia, warm type", "ORPHA:519311": "Rare disorder of the posterior segment of the eye", "ORPHA:90026": "Primary erythromelalgia", "ORPHA:519309": "Rare choroidal disorder", "ORPHA:90030": "Hemolytic anemia due to glutathione reductase deficiency", "ORPHA:89936": "X-linked hypophosphatemia", "ORPHA:519272": "Structural developmental eye defect", "ORPHA:519274": "Syndromic lacrimal system disorder", "ORPHA:89845": "OBSOLETE: Idiopathic hydrops fetalis", "ORPHA:519268": "Rare disorder with ectropion", "ORPHA:89844": "Lissencephaly syndrome, Norman-Roberts type", "ORPHA:519270": "Rare disorder with entropion", "ORPHA:89843": "Dystrophic epidermolysis bullosa pruriginosa", "ORPHA:89842": "Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form", "ORPHA:519264": "Inflammatory/autoimmune disorder involving the lacrimal system", "ORPHA:519266": "Rare disorder of the ocular adnexa", "ORPHA:89841": "OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa", "ORPHA:89840": "OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type", "ORPHA:89839": "OBSOLETE: Epidermolysis bullosa simplex superficialis", "ORPHA:90001": "X-linked cone dysfunction syndrome with myopia", "ORPHA:519288": "Rare disorder with corneal involvement as a major feature", "ORPHA:519290": "Rare inflammatory/autoimmune corneal disorder", "ORPHA:90000": "Erythema elevatum diutinum", "ORPHA:519284": "Rare disorder of the anterior segment of the eye", "ORPHA:519286": "Rare disorder of the pupil", "ORPHA:519280": "Rare conjunctivitis", "ORPHA:519282": "Rare corneal disorder", "ORPHA:89939": "NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis", "ORPHA:519276": "Anterior segment developmental abnormality with extraocular manifestations", "ORPHA:89938": "Bartter syndrome type 4", "ORPHA:89937": "Autosomal dominant hypophosphatemic rickets", "ORPHA:519278": "Infective keratitis", "ORPHA:90338": "Margarita island ectodermal dysplasia", "ORPHA:90339": "OBSOLETE: Rosselli-Gulienetti syndrome", "ORPHA:90340": "Blau syndrome", "ORPHA:90341": "Early-onset sarcoidosis", "ORPHA:90342": "Xeroderma pigmentosum variant", "ORPHA:90345": "OBSOLETE: Unclassified metaphyseal chondrodysplasia", "ORPHA:90348": "Autosomal dominant cutis laxa", "ORPHA:90349": "Autosomal recessive cutis laxa type 1", "ORPHA:90350": "Autosomal recessive cutis laxa type 2", "ORPHA:90354": "Brittle cornea syndrome", "ORPHA:90362": "Primary intestinal lymphangiectasia", "ORPHA:90363": "Secondary intestinal lymphangiectasia", "ORPHA:90290": "CREST syndrome", "ORPHA:90289": "Localized scleroderma", "ORPHA:90301": "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome", "ORPHA:90291": "Systemic sclerosis", "ORPHA:90308": "Klippel-Trénaunay syndrome", "ORPHA:90307": "Parkes Weber syndrome", "ORPHA:90318": "OBSOLETE: Ehlers-Danlos syndrome type 2", "ORPHA:90309": "OBSOLETE: Ehlers-Danlos syndrome type 1", "ORPHA:90322": "Cockayne syndrome type 2", "ORPHA:90321": "Cockayne syndrome type 1", "ORPHA:90324": "Cockayne syndrome type 3", "ORPHA:90156": "Centrifugal lipodystrophy", "ORPHA:90157": "Drug-induced localized lipodystrophy", "ORPHA:90153": "Mandibuloacral dysplasia with type A lipodystrophy", "ORPHA:90154": "Mandibuloacral dysplasia with type B lipodystrophy", "ORPHA:90160": "Pressure-induced localized lipoatrophy", "ORPHA:90158": "Idiopathic localized lipodystrophy", "ORPHA:90159": "Panniculitis-induced localized lipodystrophy", "ORPHA:90280": "Chilblain lupus", "ORPHA:90281": "Discoid lupus erythematosus", "ORPHA:90185": "Non-hereditary late-onset primary lymphedema", "ORPHA:90186": "Meige disease", "ORPHA:90285": "Lupus erythematosus panniculitis", "ORPHA:90287": "OBSOLETE: Maculopapular lupus rash", "ORPHA:90282": "Hypertrophic or verrucous lupus erythematosus", "ORPHA:90283": "Lupus erythematosus tumidus", "ORPHA:90080": "Scarring in glaucoma filtration surgical procedures", "ORPHA:90079": "OBSOLETE: Anthracycline extravasation", "ORPHA:90078": "Invasive infections due to vancomycin-resistant enterococci", "ORPHA:90077": "Other acquired skin disease", "ORPHA:90103": "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome", "ORPHA:514980": "ATP13A2-related parkinsonism", "ORPHA:90081": "AIDS wasting syndrome", "ORPHA:90118": "Severe early-onset axonal neuropathy due to MFN2 deficiency", "ORPHA:90117": "Hereditary motor and sensory neuropathy, Okinawa type", "ORPHA:90114": "Autosomal dominant intermediate Charcot-Marie-Tooth disease", "ORPHA:90120": "Hereditary motor and sensory neuropathy type 6", "ORPHA:90119": "Hereditary motor and sensory neuropathy with acrodystrophy", "ORPHA:525677": "Genetic congenital malformation of the eye with glaucoma as a major feature", "ORPHA:525731": "Pediatric-onset Graves disease", "ORPHA:525738": "Prepubertal anorexia nervosa", "ORPHA:522584": "Rare genetic choroidal disorder", "ORPHA:523000": "Pediatric-onset glaucoma", "ORPHA:522574": "Rare genetic macular disorder", "ORPHA:522576": "Rare genetic retinal vasculopathy", "ORPHA:88673": "Hepatocellular carcinoma", "ORPHA:522578": "Rare genetic disorder involving multiple structures of the eye", "ORPHA:522580": "Secondary early-onset glaucoma of genetic origin", "ORPHA:522568": "Rare genetic disorder of the pupil", "ORPHA:88644": "Autosomal recessive ataxia, Beauce type", "ORPHA:522566": "Rare genetic inflammatory/autoimmune corneal disorder", "ORPHA:88659": "Autosomal dominant progressive nephropathy with hypertension", "ORPHA:522572": "Rare genetic retinal disorder", "ORPHA:88660": "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor", "ORPHA:522570": "Rare genetic disorder of the posterior segment of the eye", "ORPHA:88661": "Amelogenesis imperfecta", "ORPHA:88637": "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome", "ORPHA:522560": "Genetic corneal dystrophy", "ORPHA:522558": "Rare genetic disorder with corneal involvement as a major feature", "ORPHA:88639": "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency", "ORPHA:522564": "Syndromic genetic keratoconus", "ORPHA:88642": "Congenital insensitivity to pain-anosmia-neuropathic arthropathy", "ORPHA:88643": "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome", "ORPHA:522562": "Genetic superficial corneal dystrophy", "ORPHA:88632": "Anterior segment developmental anomaly", "ORPHA:522552": "Lens position anomaly of genetic origin", "ORPHA:88633": "Superior limbic keratoconjunctivitis", "ORPHA:522550": "Lens size anomaly of genetic origin", "ORPHA:88635": "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates", "ORPHA:522556": "Rare genetic corneal disorder", "ORPHA:522554": "Syndromic genetic ectopia lentis", "ORPHA:88636": "Aortic dilatation-joint hypermobility-arterial tortuosity syndrome", "ORPHA:522544": "OBSOLETE: Rare genetic conjunctivitis", "ORPHA:88621": "Ichthyosis-prematurity syndrome", "ORPHA:522542": "Rare genetic disorder with conjunctival involvement as a major feature", "ORPHA:88628": "Posterior column ataxia-retinitis pigmentosa syndrome", "ORPHA:88629": "Tritanopia", "ORPHA:522548": "Syndromic genetic cataract", "ORPHA:88630": "Terminal osseous dysplasia-pigmentary defects syndrome", "ORPHA:522546": "Rare genetic disorder with lens opacification", "ORPHA:522538": "Rare genetic disorder of the anterior segment of the eye", "ORPHA:88620": "Isolated congenital anosmia", "ORPHA:522540": "Anterior segment developmental anomaly of genetic origin", "ORPHA:88619": "Familial acute necrotizing encephalopathy", "ORPHA:88618": "S-adenosylhomocysteine hydrolase deficiency", "ORPHA:522534": "Lacrimal drainage system anomaly of genetic origin", "ORPHA:522536": "Structural developmental eye defect of genetic origin", "ORPHA:88616": "Autosomal recessive non-syndromic intellectual disability", "ORPHA:522530": "Rare genetic disorder with entropion", "ORPHA:522532": "Rare genetic disorder of the lacrimal apparatus", "ORPHA:87884": "Non-syndromic genetic deafness", "ORPHA:87876": "Sialidosis type 2", "ORPHA:522526": "Rare genetic palpebral disorder", "ORPHA:522528": "Rare genetic eyelid malposition disorder", "ORPHA:87503": "Mal de Meleda", "ORPHA:522522": "Rare genetic neuromuscular disorder with ocular motility/alignment anomaly", "ORPHA:87277": "Rare intellectual disability", "ORPHA:522524": "Rare genetic disorder of the ocular adnexa", "ORPHA:522518": "Rare genetic disorder with strabismus", "ORPHA:522520": "Syndromic genetic disorder with strabismus", "ORPHA:86923": "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type", "ORPHA:522514": "Congenital optic disc excavation of genetic origin", "ORPHA:522516": "Rare genetic ocular motility/alignment disorder", "ORPHA:522510": "Rare genetic ophthalmic disorder with cranial nerve involvement", "ORPHA:86920": "Dermatopathia pigmentosa reticularis", "ORPHA:522512": "Rare genetic optic nerve disorder", "ORPHA:86919": "Keratosis palmaris et plantaris-clinodactyly syndrome", "ORPHA:522508": "Rare genetic ophthalmic disorder with cortical involvement", "ORPHA:86917": "OBSOLETE: Lymphedema-cleft palate syndrome", "ORPHA:522506": "Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature", "ORPHA:86918": "Diffuse palmoplantar keratoderma-acrocyanosis syndrome", "ORPHA:522504": "Rare genetic disorder of the visual organs", "ORPHA:86915": "Lymphedema-atrial septal defects-facial changes syndrome", "ORPHA:522077": "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome", "ORPHA:522043": "Syndromic autoimmune enteropathy", "ORPHA:86913": "Myoclonic epilepsy in non-progressive encephalopathies", "ORPHA:522037": "Primary autoimmune enteropathy", "ORPHA:86914": "Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome", "ORPHA:86909": "Myoclonic epilepsy of infancy", "ORPHA:86911": "Epilepsy with myoclonic absences", "ORPHA:86906": "Hypothalamic hamartomas with gelastic seizures", "ORPHA:86908": "Hemiconvulsion-hemiplegia-epilepsy syndrome", "ORPHA:86903": "Dendritic cell sarcoma not otherwise specified", "ORPHA:521450": "LAMA5-related multisystemic syndrome", "ORPHA:86904": "Methotrexate-associated lymphoproliferative disorders", "ORPHA:521445": "Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome", "ORPHA:521438": "Congenital vertebral-cardiac-renal anomalies syndrome", "ORPHA:86900": "Interdigitating dendritic cell sarcoma", "ORPHA:521432": "Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome", "ORPHA:86902": "Follicular dendritic cell sarcoma", "ORPHA:521426": "PLAA-associated neurodevelopmental disorder", "ORPHA:86896": "Histiocytic sarcoma", "ORPHA:521414": "Autosomal dominant Charcot-Marie-Tooth disease type 2DD", "ORPHA:86897": "Langerhans cell sarcoma", "ORPHA:521258": "Xq25 microduplication syndrome", "ORPHA:89832": "OBSOLETE: Syndromic lymphedema", "ORPHA:89826": "Rare skin disease", "ORPHA:521268": "OBSOLETE: SLC5A6-CDG", "ORPHA:521305": "Proximal myopathy with focal depletion of mitochondria", "ORPHA:89833": "Palmoplantar keratoderma with tonotubular keratin", "ORPHA:521308": "Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome", "ORPHA:521390": "Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome", "ORPHA:521399": "NON RARE IN EUROPE: Non rare obesity", "ORPHA:521406": "Dystonia-parkinsonism-hypermanganesemia syndrome", "ORPHA:89838": "Autosomal recessive generalized epidermolysis bullosa simplex", "ORPHA:521411": "Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect", "ORPHA:520820": "Progressive external ophthalmoplegia", "ORPHA:521123": "Radiation-induced plexopathy", "ORPHA:521127": "Osteoradionecrosis of the mandible", "ORPHA:521132": "Radiation-induced disorder", "ORPHA:521219": "Mirizzi syndrome", "ORPHA:89043": "Rare dementia", "ORPHA:521232": "Genetic primary orthostatic disorder", "ORPHA:521236": "Primary orthostatic disorder", "ORPHA:88949": "MUC1-related autosomal dominant tubulointerstitial kidney disease", "ORPHA:88950": "UMOD-related autosomal dominant tubulointerstitial kidney disease", "ORPHA:88991": "Rare congenital non-syndromic heart malformation", "ORPHA:88993": "Esophageal malformation", "ORPHA:520817": "Isolated inherited retinal disorder", "ORPHA:520814": "Rare disorder of the visual organs", "ORPHA:88940": "Pseudohypoaldosteronism type 2C", "ORPHA:88939": "Pseudohypoaldosteronism type 2B", "ORPHA:519930": "Fungal keratitis", "ORPHA:88938": "Pseudohypoaldosteronism type 2A", "ORPHA:88924": "Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis", "ORPHA:88918": "Autosomal dominant Alport syndrome", "ORPHA:88919": "Autosomal recessive Alport syndrome", "ORPHA:88917": "X-linked Alport syndrome", "ORPHA:93256": "Fragile X-associated tremor/ataxia syndrome", "ORPHA:528105": "Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome", "ORPHA:93222": "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation", "ORPHA:93221": "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes", "ORPHA:528091": "Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome", "ORPHA:93220": "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis", "ORPHA:93218": "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis", "ORPHA:528084": "Non-specific syndromic intellectual disability", "ORPHA:93217": "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis", "ORPHA:93216": "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes", "ORPHA:93214": "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation", "ORPHA:93262": "Crouzon syndrome-acanthosis nigricans syndrome", "ORPHA:93260": "Pfeiffer syndrome type 3", "ORPHA:93259": "Pfeiffer syndrome type 2", "ORPHA:93258": "Pfeiffer syndrome type 1", "ORPHA:93271": "Short rib-polydactyly syndrome, Verma-Naumoff type", "ORPHA:93269": "Short rib-polydactyly syndrome, Majewski type", "ORPHA:93270": "Short rib-polydactyly syndrome, Saldino-Noonan type", "ORPHA:93267": "Cloverleaf skull-multiple congenital anomalies syndrome", "ORPHA:93268": "Short rib-polydactyly syndrome, Beemer-Langer type", "ORPHA:93282": "Spondyloepimetaphyseal dysplasia, PAPSS2 type", "ORPHA:93283": "Spondyloepiphyseal dysplasia, Kimberley type", "ORPHA:93279": "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis", "ORPHA:93280": "Spondyloepiphyseal dysplasia, Omani type", "ORPHA:93276": "Polyostotic fibrous dysplasia", "ORPHA:93277": "Monostotic fibrous dysplasia", "ORPHA:93274": "Thanatophoric dysplasia type 2", "ORPHA:93275": "Thanatophoric dysplasia, Glasgow variant", "ORPHA:93108": "Renal dysplasia", "ORPHA:527497": "NKX6-2-related autosomal recessive hypomyelinating leukodystrophy", "ORPHA:93101": "Renal hypoplasia", "ORPHA:93110": "Posterior urethral valve", "ORPHA:93109": "Congenital megacalycosis", "ORPHA:527450": "Severe myopia-generalized joint laxity-short stature syndrome", "ORPHA:91547": "Relapsing fever", "ORPHA:93100": "Renal agenesis, unilateral", "ORPHA:527468": "Diaphragmatic hernia-short bowel-asplenia syndrome", "ORPHA:92050": "Congenital tufting enteropathy", "ORPHA:93160": "Hypocalcemic vitamin D-resistant rickets", "ORPHA:93164": "Transient pseudohypoaldosteronism", "ORPHA:93114": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E", "ORPHA:93111": "HNF1B-related autosomal dominant tubulointerstitial kidney disease", "ORPHA:93126": "Pauci-immune glomerulonephritis", "ORPHA:93177": "Congenital bilateral megacalycosis", "ORPHA:93178": "OBSOLETE: Partial prune belly syndrome", "ORPHA:93172": "Renal dysplasia, unilateral", "ORPHA:93173": "Renal dysplasia, bilateral", "ORPHA:93176": "Unilateral congenital megacalycosis", "ORPHA:93207": "OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change", "ORPHA:93209": "OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation", "ORPHA:93213": "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis", "ORPHA:93206": "OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis", "ORPHA:93322": "Isolated tibial hemimelia", "ORPHA:93321": "Isolated radial hemimelia", "ORPHA:93320": "Isolated ulnar hemimelia", "ORPHA:93325": "Autosomal dominant Kenny-Caffey syndrome", "ORPHA:93324": "Autosomal recessive Kenny-Caffey syndrome", "ORPHA:93323": "Isolated fibular hemimelia", "ORPHA:93329": "Autosomal recessive omodysplasia", "ORPHA:93328": "Autosomal dominant omodysplasia", "ORPHA:93336": "Polydactyly of a triphalangeal thumb", "ORPHA:93335": "Postaxial polydactyly type B", "ORPHA:93334": "Postaxial polydactyly type A", "ORPHA:93333": "Pelviscapular dysplasia", "ORPHA:93339": "Polydactyly of a biphalangeal thumb and/or hallux", "ORPHA:93337": "Polydactyly of an index finger", "ORPHA:527276": "Encephalopathy due to mitochondrial and peroxisomal fission defect", "ORPHA:93338": "Polysyndactyly", "ORPHA:93349": "X-linked spondyloepimetaphyseal dysplasia", "ORPHA:93346": "Spondyloepimetaphyseal dysplasia congenita, Strudwick type", "ORPHA:93347": "Anauxetic dysplasia", "ORPHA:93356": "Spondyloepimetaphyseal dysplasia, Missouri type", "ORPHA:93351": "Spondyloepimetaphyseal dysplasia, Irapa type", "ORPHA:93352": "Spondyloepimetaphyseal dysplasia, Shohat type", "ORPHA:93284": "Spondyloepiphyseal dysplasia tarda", "ORPHA:93292": "Adenoma of pancreas", "ORPHA:93293": "Okihiro syndrome", "ORPHA:93296": "Achondrogenesis type 2", "ORPHA:93298": "Achondrogenesis type 1B", "ORPHA:93297": "Hypochondrogenesis", "ORPHA:93299": "Achondrogenesis type 1A", "ORPHA:93302": "Brachyolmia, Maroteaux type", "ORPHA:93301": "Brachyolmia type 1, Hobaek type", "ORPHA:93303": "Brachyolmia type 1, Toledo type", "ORPHA:93304": "Autosomal dominant brachyolmia", "ORPHA:93307": "Multiple epiphyseal dysplasia type 4", "ORPHA:93308": "Multiple epiphyseal dysplasia type 1", "ORPHA:93311": "Multiple epiphyseal dysplasia type 5", "ORPHA:93313": "OBSOLETE: Multiple epiphyseal dysplasia, unclassified type", "ORPHA:93314": "Spondylometaphyseal dysplasia, Kozlowski type", "ORPHA:93315": "Spondylometaphyseal dysplasia, 'corner fracture' type", "ORPHA:93316": "Spondylometaphyseal dysplasia, Schmidt type", "ORPHA:93317": "Spondylometaphyseal dysplasia, Sedaghatian type", "ORPHA:90692": "Rare endocrine growth disease", "ORPHA:529962": "17q24.2 microdeletion syndrome", "ORPHA:529864": "Secondary erythromelalgia", "ORPHA:529852": "Combined hepatocellular carcinoma and cholangiocarcinoma", "ORPHA:90673": "Hypothyroidism due to TSH receptor mutations", "ORPHA:90674": "Isolated thyroid-stimulating hormone deficiency", "ORPHA:529831": "Letrozole toxicity", "ORPHA:529819": "NON RARE IN EUROPE: Exfoliation syndrome", "ORPHA:529808": "Chronic bilirubin encephalopathy", "ORPHA:90658": "Charcot-Marie-Tooth disease type 1E", "ORPHA:529799": "Acute bilirubin encephalopathy", "ORPHA:90791": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency", "ORPHA:90790": "Congenital lipoid adrenal hyperplasia due to STAR deficency", "ORPHA:90787": "46,XY difference of sex development due to testicular steroidogenesis defect", "ORPHA:90786": "46,XY difference of sex development due to adrenal and testicular steroidogenesis defect", "ORPHA:90783": "46,XY difference of sex development due to a testosterone synthesis defect", "ORPHA:90776": "46,XX difference of sex development induced by fetal androgens excess", "ORPHA:90771": "Difference of sex development", "ORPHA:529980": "Inflammatory bowel disease-recurrent sinopulmonary infections syndrome", "ORPHA:530033": "Dermoid or epidermoid cyst of the central nervous system", "ORPHA:529974": "Immune dysregulation with inflammatory bowel disease", "ORPHA:529977": "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome", "ORPHA:90695": "Non-acquired panhypopituitarism", "ORPHA:529965": "Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome", "ORPHA:529970": "Male infertility due to acephalic spermatozoa", "ORPHA:90400": "Scleromyxedema without monoclonal gammopathy", "ORPHA:90625": "Rare X-linked non-syndromic sensorineural deafness type DFN", "ORPHA:90635": "Rare autosomal dominant non-syndromic sensorineural deafness type DFNA", "ORPHA:90636": "Rare autosomal recessive non-syndromic sensorineural deafness type DFNB", "ORPHA:90396": "Acral persistent papular mucinosis", "ORPHA:529468": "Monoclonal mast cell activation syndrome", "ORPHA:90397": "Self-healing papular mucinosis", "ORPHA:529574": "Duane retraction syndrome with congenital deafness", "ORPHA:90398": "Localized lichen myxedematosus with mixed features of different subtypes", "ORPHA:90399": "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms", "ORPHA:90393": "Nodular lichen myxedematosus", "ORPHA:90394": "Discrete papular lichen myxedematosus", "ORPHA:90395": "Papular mucinosis of infancy", "ORPHA:90368": "Hypotrichosis simplex of the scalp", "ORPHA:90389": "Telangiectasia macularis eruptiva perstans", "ORPHA:90390": "Anonychia-onychodystrophy syndrome", "ORPHA:90653": "Stickler syndrome type 1", "ORPHA:90652": "Otopalatodigital syndrome type 2", "ORPHA:90654": "Stickler syndrome type 2", "ORPHA:529665": "Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome", "ORPHA:90647": "Jervell and Lange-Nielsen syndrome", "ORPHA:90650": "Otopalatodigital syndrome type 1", "ORPHA:90649": "Orofaciodigital syndrome type 7", "ORPHA:90646": "Deafness-hypogonadism syndrome", "ORPHA:90642": "Syndromic genetic deafness", "ORPHA:90641": "Rare mitochondrial non-syndromic sensorineural deafness", "ORPHA:91387": "Familial thoracic aortic aneurysm and aortic dissection", "ORPHA:91396": "Isolated cryptophthalmia", "ORPHA:91378": "Hereditary angioedema", "ORPHA:91385": "Acquired angioedema", "ORPHA:91412": "Marcus-Gunn syndrome", "ORPHA:91413": "Congenital Horner syndrome", "ORPHA:91397": "Isolated ankyloblepharon filiforme adnatum", "ORPHA:91411": "Congenital ptosis", "ORPHA:91357": "Duplication of the esophagus", "ORPHA:91354": "Pituitary deficiency due to empty sella turcica syndrome", "ORPHA:91355": "Sheehan syndrome", "ORPHA:91364": "Non-specific interstitial pneumonia", "ORPHA:91365": "OBSOLETE: Secondary ciliary dyskinesia", "ORPHA:91358": "Congenital esophageal diverticulum", "ORPHA:91359": "Chronic pneumonitis of infancy", "ORPHA:91496": "Snowflake vitreoretinal degeneration", "ORPHA:91495": "Persistent hyperplastic primary vitreous", "ORPHA:91494": "Macular coloboma-cleft palate-hallux valgus syndrome", "ORPHA:91492": "Early onset non-syndromic cataract", "ORPHA:91546": "Lyme disease", "ORPHA:91500": "Tubulointerstitial nephritis and uveitis syndrome", "ORPHA:91498": "Familial congenital palsy of trochlear nerve", "ORPHA:91481": "Ring dermoid of cornea", "ORPHA:91416": "Isolated congenital alacrima", "ORPHA:91415": "OBSOLETE: Familial capillary hemangioma", "ORPHA:91414": "Pilomatrixoma", "ORPHA:91491": "Congenital ectropion uveae", "ORPHA:91490": "Isolated congenital sclerocornea", "ORPHA:91489": "Isolated congenital megalocornea", "ORPHA:91483": "Rieger anomaly", "ORPHA:91127": "Adenovirus infection in immunocompromised patients", "ORPHA:91128": "OBSOLETE: Graft rejection after lung transplantation", "ORPHA:91129": "Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome", "ORPHA:91130": "Cardiomyopathy-hypotonia-lactic acidosis syndrome", "ORPHA:91131": "DK1-CDG", "ORPHA:91132": "Ichthyosis-hypotrichosis syndrome", "ORPHA:91133": "OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome", "ORPHA:90793": "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency", "ORPHA:90794": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "ORPHA:90795": "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency", "ORPHA:90796": "46,XY difference of sex development due to isolated 17,20-lyase deficiency", "ORPHA:90797": "Partial androgen insensitivity syndrome", "ORPHA:90970": "Primary lipodystrophy", "ORPHA:91024": "Autosomal recessive axonal hereditary motor and sensory neuropathy", "ORPHA:91088": "Other metabolic disease", "ORPHA:91347": "TSH-secreting pituitary adenoma", "ORPHA:91349": "Non-functioning pituitary adenoma", "ORPHA:91348": "Functioning gonadotropic adenoma", "ORPHA:91351": "Pituitary dermoid and epidermoid cysts", "ORPHA:91350": "Pituitary deficiency due to Rathke cleft cysts", "ORPHA:91353": "OBSOLETE: Choristoma", "ORPHA:91352": "Germinoma of the central nervous system", "ORPHA:91136": "Acquired monoclonal Ig light chain-associated Fanconi syndrome", "ORPHA:91135": "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency", "ORPHA:91138": "Cryoglobulinemic vasculitis", "ORPHA:91137": "Immunotactoid or fibrillary glomerulopathy", "ORPHA:91140": "Unspecified juvenile idiopathic arthritis", "ORPHA:91139": "Simple cryoglobulinemia", "ORPHA:528623": "Hereditary angioedema with C1Inh deficiency", "ORPHA:91144": "46,XX difference of sex development induced by maternal-derived androgen", "ORPHA:528647": "Hereditary angioedema with normal C1Inh", "ORPHA:528663": "Acquired angioedema with C1Inh deficiency", "ORPHA:79384": "Rare urticaria", "ORPHA:79385": "Unclassified genetic skin disorder", "ORPHA:79382": "Subcutaneous tissue disease", "ORPHA:79383": "OBSOLETE: Lymphedema", "ORPHA:79388": "Mucopolysaccharidosis with skin involvement", "ORPHA:79389": "Premature aging", "ORPHA:79386": "Rare skin tumor or hamartoma", "ORPHA:79387": "Metabolic disease with skin involvement", "ORPHA:79390": "Rare photodermatosis", "ORPHA:79391": "Immune deficiency with skin involvement", "ORPHA:79396": "Autosomal dominant generalized epidermolysis bullosa simplex, severe form", "ORPHA:79397": "Epidermolysis bullosa simplex with mottled pigmentation", "ORPHA:79394": "Congenital ichthyosiform erythroderma", "ORPHA:79395": "Keratoderma hereditarium mutilans with ichthyosis", "ORPHA:79369": "Isolated nail anomaly", "ORPHA:79368": "Nail anomaly", "ORPHA:79367": "Syndromic hair shaft abnormality", "ORPHA:79366": "Isolated hair shaft abnormality", "ORPHA:79373": "Ectodermal dysplasia syndrome", "ORPHA:79372": "Sebaceous gland anomaly", "ORPHA:79370": "Syndromic nail anomaly", "ORPHA:79377": "Dermis disorder", "ORPHA:79376": "Hypopigmentation of the skin", "ORPHA:79375": "Hyperpigmentation of the skin", "ORPHA:79374": "Pigmentation anomaly of the skin", "ORPHA:79381": "Other dermis disorder", "ORPHA:79380": "Mixed dermis disorder", "ORPHA:79379": "Skin vascular disease", "ORPHA:79378": "Dermis elastic tissue disorder", "ORPHA:79414": "Woolly hair nevus", "ORPHA:79428": "OBSOLETE: Familial segmental neurofibromatosis", "ORPHA:79429": "OBSOLETE: Familial spinal neurofibromatosis", "ORPHA:79399": "Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form", "ORPHA:79401": "PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement", "ORPHA:79400": "Localized epidermolysis bullosa simplex", "ORPHA:79403": "Junctional epidermolysis bullosa with pyloric atresia", "ORPHA:79402": "Intermediate generalized junctional epidermolysis bullosa", "ORPHA:79405": "Junctional epidermolysis bullosa inversa", "ORPHA:79404": "Severe generalized junctional epidermolysis bullosa", "ORPHA:79407": "Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type", "ORPHA:79406": "Late-onset junctional epidermolysis bullosa", "ORPHA:79409": "Recessive dystrophic epidermolysis bullosa inversa", "ORPHA:79408": "Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form", "ORPHA:79411": "Self-improving dystrophic epidermolysis bullosa", "ORPHA:79410": "Localized dystrophic epidermolysis bullosa, pretibial form", "ORPHA:79452": "Milroy disease", "ORPHA:79450": "Non-hereditary congenital primary lymphedema", "ORPHA:79446": "Multiple pterygium syndrome, Aslan type", "ORPHA:79447": "X-linked lethal multiple pterygium syndrome", "ORPHA:79458": "Oley syndrome", "ORPHA:79459": "OBSOLETE: Follicular atrophoderma-basal cell carcinoma", "ORPHA:79456": "Diffuse cutaneous mastocytosis", "ORPHA:79457": "Maculopapular cutaneous mastocytosis", "ORPHA:79455": "Cutaneous mastocytoma", "ORPHA:79435": "Oculocutaneous albinism type 4", "ORPHA:79434": "Oculocutaneous albinism type 1B", "ORPHA:79433": "Oculocutaneous albinism type 3", "ORPHA:79432": "Oculocutaneous albinism type 2", "ORPHA:79431": "Oculocutaneous albinism type 1A", "ORPHA:79430": "Hermansky-Pudlak syndrome", "ORPHA:79445": "Pseudopseudohypoparathyroidism", "ORPHA:79444": "Pseudohypoparathyroidism type 1C", "ORPHA:79443": "Pseudohypoparathyroidism type 1A", "ORPHA:79482": "Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome", "ORPHA:79483": "Phakomatosis cesioflammea", "ORPHA:79484": "Phakomatosis cesiomarmorata", "ORPHA:79485": "Phakomatosis spilorosea", "ORPHA:79478": "Griscelli syndrome type 3", "ORPHA:79479": "Pemphigus vegetans", "ORPHA:79480": "Pemphigus erythematosus", "ORPHA:79481": "Pemphigus foliaceus", "ORPHA:79490": "Microcystic lymphatic malformation", "ORPHA:79492": "Pili gemini", "ORPHA:79493": "Brooke-Spiegler syndrome", "ORPHA:79486": "Cystic hygroma", "ORPHA:79489": "Macrocystic lymphatic malformation", "ORPHA:79467": "Verrucous nevus", "ORPHA:79466": "Inflammatory linear verrucous epidermal nevus", "ORPHA:79468": "Acanthokeratolytic verrucous nevus", "ORPHA:79474": "Atypical Werner syndrome", "ORPHA:79477": "Griscelli syndrome type 2", "ORPHA:79476": "Griscelli syndrome type 1", "ORPHA:79473": "Variegate porphyria", "ORPHA:79264": "OBSOLETE: Juvenile neuronal ceroid lipofuscinosis", "ORPHA:79263": "OBSOLETE: Infantile neuronal ceroid lipofuscinosis", "ORPHA:79262": "OBSOLETE: Adult neuronal ceroid lipofuscinosis", "ORPHA:79269": "Sanfilippo syndrome type A", "ORPHA:79257": "GM1 gangliosidosis type 3", "ORPHA:79256": "GM1 gangliosidosis type 2", "ORPHA:79255": "GM1 gangliosidosis type 1", "ORPHA:79254": "Classic phenylketonuria", "ORPHA:79261": "Glycogen storage disease type 1d", "ORPHA:79260": "Glycogen storage disease type 1c", "ORPHA:79259": "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib", "ORPHA:79258": "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia", "ORPHA:79246": "Pyruvate dehydrogenase phosphatase deficiency", "ORPHA:79253": "Mild phenylketonuria", "ORPHA:79240": "Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency", "ORPHA:79241": "Biotinidase deficiency", "ORPHA:79238": "Galactose epimerase deficiency", "ORPHA:79239": "Classic galactosemia", "ORPHA:79244": "Pyruvate dehydrogenase E2 deficiency", "ORPHA:79242": "Holocarboxylase synthetase deficiency", "ORPHA:79243": "Pyruvate dehydrogenase E1-alpha deficiency", "ORPHA:79299": "Congenital glucokinase-related hyperinsulinism", "ORPHA:79298": "Diazoxide-resistant focal hyperinsulinism", "ORPHA:79301": "Congenital bile acid synthesis defect type 1", "ORPHA:79289": "Niemann-Pick disease type D", "ORPHA:79293": "Familial LCAT deficiency", "ORPHA:79292": "Fish-eye disease", "ORPHA:79278": "Autosomal erythropoietic protoporphyria", "ORPHA:79279": "Alpha-N-acetylgalactosaminidase deficiency type 1", "ORPHA:79280": "Alpha-N-acetylgalactosaminidase deficiency type 2", "ORPHA:79281": "Alpha-N-acetylgalactosaminidase deficiency type 3", "ORPHA:79282": "Methylmalonic acidemia with homocystinuria, type cblC", "ORPHA:79283": "Methylmalonic acidemia with homocystinuria, type cblD", "ORPHA:79284": "Methylmalonic acidemia with homocystinuria type cblF", "ORPHA:79270": "Sanfilippo syndrome type B", "ORPHA:79271": "Sanfilippo syndrome type C", "ORPHA:79272": "Sanfilippo syndrome type D", "ORPHA:79273": "Hereditary coproporphyria", "ORPHA:79276": "Acute intermittent porphyria", "ORPHA:79277": "Congenital erythropoietic porphyria", "ORPHA:79333": "COG7-CDG", "ORPHA:79332": "B4GALT1-CDG", "ORPHA:79330": "MOGS-CDG", "ORPHA:79329": "MGAT2-CDG", "ORPHA:79328": "ALG9-CDG", "ORPHA:79327": "ALG1-CDG", "ORPHA:79326": "ALG2-CDG", "ORPHA:79325": "ALG8-CDG", "ORPHA:79324": "ALG12-CDG", "ORPHA:79323": "MPDU1-CDG", "ORPHA:79322": "DPM1-CDG", "ORPHA:79321": "ALG3-CDG", "ORPHA:79320": "ALG6-CDG", "ORPHA:79319": "MPI-CDG", "ORPHA:79318": "PMM2-CDG", "ORPHA:79316": "OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency", "ORPHA:79317": "OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency", "ORPHA:79314": "L-2-hydroxyglutaric aciduria", "ORPHA:79315": "D-2-hydroxyglutaric aciduria", "ORPHA:79312": "Vitamin B12-unresponsive methylmalonic acidemia type mut-", "ORPHA:79310": "Vitamin B12-responsive methylmalonic acidemia type cblA", "ORPHA:79311": "Vitamin B12-responsive methylmalonic acidemia type cblB", "ORPHA:79306": "Progressive familial intrahepatic cholestasis type 1", "ORPHA:79304": "Progressive familial intrahepatic cholestasis type 2", "ORPHA:79305": "Progressive familial intrahepatic cholestasis type 3", "ORPHA:79302": "Congenital bile acid synthesis defect type 3", "ORPHA:79303": "Congenital bile acid synthesis defect type 2", "ORPHA:79363": "Hair anomaly", "ORPHA:79362": "Epidermal appendage anomaly", "ORPHA:79365": "Rare disorder with hypertrichosis", "ORPHA:79364": "Alopecia", "ORPHA:79359": "Other epidermal disorder", "ORPHA:79358": "Porokeratosis", "ORPHA:79361": "Inherited epidermolysis bullosa", "ORPHA:79360": "Other genetic epidermal disease", "ORPHA:79355": "Erythrokeratoderma", "ORPHA:79354": "Ichthyosis", "ORPHA:79357": "Hereditary palmoplantar keratoderma", "ORPHA:79356": "Acrokeratoderma", "ORPHA:79351": "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form", "ORPHA:79350": "3-phosphoserine phosphatase deficiency, infantile/juvenile form", "ORPHA:79353": "Epidermal disease", "ORPHA:79346": "Chondrodysplasia punctata, tibial-metacarpal type", "ORPHA:79347": "Chondrodysplasia punctata, Toriello type", "ORPHA:79344": "OBSOLETE: Chondrodysplasia punctata, Sheffield type", "ORPHA:79345": "Brachytelephalangic chondrodysplasia punctata", "ORPHA:85191": "Singleton-Merten dysplasia", "ORPHA:85188": "Metaphyseal dysplasia, Braun-Tinschert type", "ORPHA:85193": "Idiopathic juvenile osteoporosis", "ORPHA:85192": "Calvarial doughnut lesions-bone fragility syndrome", "ORPHA:85195": "Familial expansile osteolysis", "ORPHA:85194": "Spondylo-ocular syndrome", "ORPHA:85197": "Genochondromatosis type 1", "ORPHA:85196": "Nodulosis-arthropathy-osteolysis syndrome", "ORPHA:85199": "Craniosynostosis-anal anomalies-porokeratosis syndrome", "ORPHA:85198": "Dysspondyloenchondromatosis", "ORPHA:85201": "Genitopatellar syndrome", "ORPHA:85200": "Ischio-vertebral syndrome", "ORPHA:85203": "Acropectoral syndrome", "ORPHA:85202": "Keutel syndrome", "ORPHA:85273": "X-linked intellectual disability, Abidi type", "ORPHA:85212": "Fetal Gaucher disease", "ORPHA:85274": "Syndromic X-linked intellectual disability 7", "ORPHA:85275": "Microphthalmia-ankyloblepharon-intellectual disability syndrome", "ORPHA:85276": "X-linked intellectual disability, Armfield type", "ORPHA:85277": "X-linked intellectual disability, Cantagrel type", "ORPHA:85278": "Christianson syndrome", "ORPHA:85279": "KDM5C-related syndromic X-linked intellectual disability", "ORPHA:85280": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome", "ORPHA:85281": "OBSOLETE: MECP2 duplication syndrome", "ORPHA:85282": "MEHMO syndrome", "ORPHA:85283": "X-linked intellectual disability, Miles-Carpenter type", "ORPHA:85284": "BRESEK syndrome", "ORPHA:85285": "X-linked intellectual disability, Schimke type", "ORPHA:85286": "X-linked intellectual disability, Shashi type", "ORPHA:85287": "X-linked intellectual disability, Siderius type", "ORPHA:85288": "X-linked intellectual disability, Stocco Dos Santos type", "ORPHA:85289": "X-linked intellectual disability, Vitale type", "ORPHA:85293": "X-linked intellectual disability, Cabezas type", "ORPHA:85292": "X-linked spinocerebellar ataxia type 4", "ORPHA:85291": "X-linked intellectual disability, Wittwer type", "ORPHA:85290": "X-linked intellectual disability, Wilson type", "ORPHA:85317": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome", "ORPHA:85297": "X-linked spinocerebellar ataxia type 3", "ORPHA:85295": "HSD10 disease, atypical type", "ORPHA:85294": "X-linked epilepsy-learning disabilities-behavior disorders syndrome", "ORPHA:85321": "Deafness-intellectual disability syndrome, Martin-Probst type", "ORPHA:85320": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome", "ORPHA:85319": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome", "ORPHA:85318": "OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome", "ORPHA:85325": "X-linked intellectual disability, Stevenson type", "ORPHA:85324": "X-linked intellectual disability, Shrimpton type", "ORPHA:85323": "X-linked intellectual disability, Seemanova type", "ORPHA:85322": "X-linked intellectual disability, Pai type", "ORPHA:85328": "X-linked intellectual disability, Turner type", "ORPHA:85329": "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome", "ORPHA:85326": "X-linked intellectual disability, Stoll type", "ORPHA:85327": "X-linked intellectual disability-acromegaly-hyperactivity syndrome", "ORPHA:85332": "X-linked intellectual disability-retinitis pigmentosa syndrome", "ORPHA:85333": "X-linked intellectual disability-spastic paraplegia with iron deposits syndrome", "ORPHA:85330": "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome", "ORPHA:85331": "OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome", "ORPHA:85336": "X-linked neurodegenerative syndrome, Hamel type", "ORPHA:85337": "X-linked intellectual disability, Zorick type", "ORPHA:85334": "X-linked neurodegenerative syndrome, Bertini type", "ORPHA:85335": "Fried syndrome", "ORPHA:85410": "Oligoarticular juvenile idiopathic arthritis", "ORPHA:85414": "Systemic-onset juvenile idiopathic arthritis", "ORPHA:85338": "X-linked intellectual disability-ataxia-apraxia syndrome", "ORPHA:85408": "Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis", "ORPHA:85443": "AL amyloidosis", "ORPHA:85442": "Short stature-pituitary and cerebellar defects-small sella turcica syndrome", "ORPHA:85446": "Wild type ABeta2M amyloidosis", "ORPHA:85445": "AA amyloidosis", "ORPHA:85436": "Psoriasis-related juvenile idiopathic arthritis", "ORPHA:85435": "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis", "ORPHA:85438": "Enthesitis-related juvenile idiopathic arthritis", "ORPHA:85458": "Cerebral Amyloid Angiopathy", "ORPHA:85453": "X-linked reticulate pigmentary disorder", "ORPHA:86788": "X-linked severe congenital neutropenia", "ORPHA:86309": "DPAGT1-CDG", "ORPHA:85448": "AGel amyloidosis", "ORPHA:85447": "ATTRV30M amyloidosis", "ORPHA:85451": "ATTRV122I amyloidosis", "ORPHA:85450": "Hereditary amyloidosis with primary renal involvement", "ORPHA:86812": "POMT1-related limb-girdle muscular dystrophy R11", "ORPHA:86813": "Helicoid peripapillary chorioretinal degeneration", "ORPHA:86814": "Benign adult familial myoclonic epilepsy", "ORPHA:86815": "Aplasia of lacrimal and salivary glands", "ORPHA:86789": "Isolated patella aplasia/hypoplasia", "ORPHA:86795": "Localized lichen myxedematosus", "ORPHA:86797": "Atypical lichen myxedematosus", "ORPHA:86820": "Familial avascular necrosis of femoral head", "ORPHA:86821": "Lissencephaly type 3-familial fetal akinesia sequence syndrome", "ORPHA:86822": "Lissencephaly type 3-metacarpal bone dysplasia syndrome", "ORPHA:86823": "Lissencephaly with cerebellar hypoplasia", "ORPHA:86816": "Congenital analbuminemia", "ORPHA:512017": "Chronic lymphoproliferative disorder of natural killer cells", "ORPHA:86817": "Hemolytic anemia due to adenylate kinase deficiency", "ORPHA:86818": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome", "ORPHA:86819": "Atrichia with papular lesions", "ORPHA:512034": "Large granular lymphocyte leukemia", "ORPHA:86843": "Acute panmyelosis with myelofibrosis", "ORPHA:86841": "Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality", "ORPHA:86839": "Myelodysplastic neoplasm with increased blasts", "ORPHA:86836": "Refractory cytopenia with multilineage dysplasia", "ORPHA:512103": "Autosomal recessive epidermolytic ichthyosis", "ORPHA:86834": "Juvenile myelomonocytic leukemia", "ORPHA:86830": "Chronic myeloproliferative disease, unclassifiable", "ORPHA:86829": "Chronic neutrophilic leukemia", "ORPHA:86855": "Plasmacytoma", "ORPHA:512260": "Congenital cerebellar ataxia due to RNU12 mutation", "ORPHA:86854": "Splenic marginal zone lymphoma", "ORPHA:86852": "B-cell prolymphocytic leukemia", "ORPHA:86851": "Acute leukemia of ambiguous lineage", "ORPHA:86850": "Myeloid sarcoma", "ORPHA:86849": "Acute basophilic leukemia", "ORPHA:86846": "Therapy related acute myeloid leukemia and myelodysplastic syndrome", "ORPHA:86845": "Acute myeloid leukaemia with myelodysplasia-related features", "ORPHA:86872": "T-cell large granular lymphocyte leukemia", "ORPHA:86873": "Aggressive NK-cell leukemia", "ORPHA:86870": "Blastic plasmacytoid dendritic cell neoplasm", "ORPHA:86871": "T-cell prolymphocytic leukemia", "ORPHA:86867": "Nodal marginal zone B-cell lymphoma", "ORPHA:86869": "Lymphomatoid granulomatosis", "ORPHA:86861": "Non-amyloid monoclonal immunoglobulin deposition disease", "ORPHA:86864": "Heavy chain disease", "ORPHA:86886": "Angioimmunoblastic T-cell lymphoma", "ORPHA:86893": "Nodular lymphocyte predominant Hodgkin lymphoma", "ORPHA:86884": "Subcutaneous panniculitis-like T-cell lymphoma", "ORPHA:86885": "Primary cutaneous peripheral T-cell lymphoma not otherwise specified", "ORPHA:86880": "Enteropathy-associated T-cell lymphoma", "ORPHA:86882": "Hepatosplenic T-cell lymphoma", "ORPHA:86875": "Adult T-cell leukemia/lymphoma", "ORPHA:86879": "Extranodal nasal NK/T cell lymphoma", "ORPHA:79502": "Punctate palmoplantar keratoderma type 2", "ORPHA:79503": "Ichthyosis hystrix of Curth-Macklin", "ORPHA:79504": "Ichthyosis hystrix gravior", "ORPHA:79506": "OBSOLETE: Cholesterol-ester transfer protein deficiency", "ORPHA:79507": "Hypotonia-failure to thrive-microcephaly syndrome", "ORPHA:79495": "X-linked congenital generalized hypertrichosis", "ORPHA:79499": "Autosomal dominant deafness-onychodystrophy syndrome", "ORPHA:79500": "DOORS syndrome", "ORPHA:79501": "Punctate palmoplantar keratoderma type 1", "ORPHA:79669": "Autoimmune bullous skin disease", "ORPHA:79665": "Gardner syndrome", "ORPHA:82004": "Ehlers-Danlos syndrome with periventricular heterotopia", "ORPHA:83001": "Urogenital tract malformation", "ORPHA:79643": "Autosomal recessive hyperinsulinism due to SUR1 deficiency", "ORPHA:79651": "Mild hyperphenylalaninemia", "ORPHA:79644": "Autosomal recessive hyperinsulinism due to Kir6.2 deficiency", "ORPHA:83317": "Scrub typhus", "ORPHA:83330": "Proximal spinal muscular atrophy type 1", "ORPHA:83315": "Murine typhus", "ORPHA:83316": "Pseudotyphus of California", "ORPHA:83419": "Proximal spinal muscular atrophy type 3", "ORPHA:83420": "Proximal spinal muscular atrophy type 4", "ORPHA:83418": "Proximal spinal muscular atrophy type 2", "ORPHA:83313": "Boutonneuse fever", "ORPHA:83314": "Epidemic typhus", "ORPHA:83311": "Rocky Mountain spotted fever", "ORPHA:83312": "Rickettsialpox", "ORPHA:83469": "Desmoplastic small round cell tumor", "ORPHA:83468": "Solitary bone cyst", "ORPHA:83467": "Morvan syndrome", "ORPHA:83465": "Narcolepsy type 2", "ORPHA:83476": "West-Nile encephalitis", "ORPHA:83473": "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome", "ORPHA:83472": "CAMOS syndrome", "ORPHA:83471": "T-cell immunodeficiency with thymic aplasia", "ORPHA:83452": "Complex regional pain syndrome", "ORPHA:83451": "Florid cemento-osseous dysplasia", "ORPHA:83450": "Regional odontodysplasia", "ORPHA:83449": "NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome", "ORPHA:83463": "Microtia", "ORPHA:83461": "Congenital primary aphakia", "ORPHA:83454": "Glomuvenous malformation", "ORPHA:83453": "Vulvovaginal gingival syndrome", "ORPHA:514352": "Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome", "ORPHA:83618": "Severe dilated cardiomyopathy due to lamin A/C mutation", "ORPHA:83619": "Macrostomia-preauricular tags-external ophthalmoplegia syndrome", "ORPHA:83620": "Enteric anendocrinosis", "ORPHA:83628": "LUMBAR syndrome", "ORPHA:83601": "Steroid-responsive encephalopathy associated with autoimmune thyroiditis", "ORPHA:83616": "Rubella panencephalitis", "ORPHA:83617": "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome", "ORPHA:83594": "Eastern equine encephalitis", "ORPHA:83595": "Colorado tick fever", "ORPHA:83597": "Acute disseminated encephalomyelitis", "ORPHA:83600": "Encephalitis lethargica", "ORPHA:83482": "Mycoplasma encephalitis", "ORPHA:83483": "La Crosse encephalitis", "ORPHA:83484": "St. Louis encephalitis", "ORPHA:83593": "Western equine encephalitis", "ORPHA:84085": "Hinman syndrome", "ORPHA:84081": "Senior-Boichis syndrome", "ORPHA:84090": "Fibronectin glomerulopathy", "ORPHA:84087": "Collagen type III glomerulopathy", "ORPHA:84064": "Syndromic diarrhea", "ORPHA:84065": "Idiopathic malabsorption due to bile acid synthesis defects", "ORPHA:513436": "Autosomal recessive spastic paraplegia type 78", "ORPHA:83639": "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency", "ORPHA:83629": "Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome", "ORPHA:513456": "Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome", "ORPHA:83648": "OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome", "ORPHA:83642": "Microcytic anemia with liver iron overload", "ORPHA:85163": "Hypomyelination-congenital cataract syndrome", "ORPHA:85164": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome", "ORPHA:85146": "Neurogenic scapuloperoneal syndrome, Kaeser type", "ORPHA:85162": "Facial onset sensory and motor neuronopathy", "ORPHA:85138": "Addison disease", "ORPHA:85142": "NON RARE IN EUROPE: Aldosterone-producing adenoma", "ORPHA:85128": "Bothnia retinal dystrophy", "ORPHA:85136": "Cystic leukoencephalopathy without megalencephaly", "ORPHA:85110": "Familial encephalopathy with neuroserpin inclusion bodies", "ORPHA:85112": "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome", "ORPHA:84271": "Sporadic idiopathic steroid-resistant nephrotic syndrome", "ORPHA:85102": "Perineurioma", "ORPHA:84132": "Desmin-related myopathy with Mallory body-like inclusions", "ORPHA:84142": "Isaacs syndrome", "ORPHA:84093": "Hereditary thermosensitive neuropathy", "ORPHA:84096": "OBSOLETE: Unknown leukodystrophy", "ORPHA:85186": "Endosteal sclerosis-cerebellar hypoplasia syndrome", "ORPHA:85184": "Craniometadiaphyseal dysplasia, wormian bone type", "ORPHA:85182": "Diaphyseal medullary stenosis-bone malignancy syndrome", "ORPHA:85179": "Infantile osteopetrosis with neuroaxonal dysplasia", "ORPHA:85175": "Astley-Kendall dysplasia", "ORPHA:85174": "Pseudodiastrophic dysplasia", "ORPHA:85173": "IMAGe syndrome", "ORPHA:85172": "Microcephalic osteodysplastic dysplasia, Saul-Wilson type", "ORPHA:85170": "Mesomelic dysplasia, Savarirayan type", "ORPHA:85169": "Familial digital arthropathy-brachydactyly", "ORPHA:85168": "Craniofacial conodysplasia", "ORPHA:85167": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome", "ORPHA:85166": "Platyspondylic dysplasia, Torrance type", "ORPHA:85165": "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "ORPHA:98118": "OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly", "ORPHA:98119": "OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly", "ORPHA:98120": "OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly", "ORPHA:98121": "OBSOLETE: Cys-loop receptor channelopathy", "ORPHA:603448": "Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome", "ORPHA:98122": "OBSOLETE: Channelopathy due to a neuronal glycine receptor defect", "ORPHA:98123": "OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect", "ORPHA:603515": "Isolated female hypospadias", "ORPHA:98124": "OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect", "ORPHA:603494": "Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome", "ORPHA:98125": "OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect", "ORPHA:603689": "KLHL7-related Bohring-Opitz-like syndrome", "ORPHA:603684": "KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome", "ORPHA:98127": "Autosomal anomaly syndrome", "ORPHA:603699": "Recessive KLHL7-related disorder", "ORPHA:603694": "KLHL7-related Crisponi/cold-induced sweating-like syndrome", "ORPHA:98130": "Autosomal trisomy syndrome", "ORPHA:98131": "Total autosomal trisomy syndrome", "ORPHA:98132": "Partial autosomal duplication/triplication syndrome", "ORPHA:98103": "OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect", "ORPHA:98102": "OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defect", "ORPHA:98105": "OBSOLETE: Channelopathy due to cyclic nucleotide-gated ion channels", "ORPHA:98104": "OBSOLETE: Channelopathy due to a transient receptor potential channel defect", "ORPHA:98107": "OBSOLETE: Channelopathy due to a voltage-gated sodium channel defect", "ORPHA:98106": "OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect", "ORPHA:98109": "OBSOLETE: Non-pore-loop channelopathy", "ORPHA:98108": "OBSOLETE: Channelopathy due to a voltage-gated calcium channel defect", "ORPHA:98111": "OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect", "ORPHA:98110": "OBSOLETE: Channelopathy due to an epithelial sodium channel defect", "ORPHA:98113": "OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly", "ORPHA:98112": "OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect", "ORPHA:98115": "OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly", "ORPHA:98114": "OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly", "ORPHA:98117": "OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly", "ORPHA:98116": "OBSOLETE: Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly", "ORPHA:98152": "Autosomal uniparental disomy syndrome", "ORPHA:98153": "Maternal uniparental disomy syndrome", "ORPHA:98156": "Sex-chromosome number anomaly syndrome", "ORPHA:98157": "Sex-chromosome structural anomaly syndrome", "ORPHA:98154": "Paternal uniparental disomy syndrome", "ORPHA:98155": "Sex-chromosome anomaly syndrome", "ORPHA:98158": "Chromosome Y structural anomaly syndrome", "ORPHA:98159": "Chromosome X structural anomaly syndrome", "ORPHA:98141": "Total autosomal monosomy syndrome", "ORPHA:98142": "Partial autosomal deletion syndrome", "ORPHA:98058": "Rare urinary tract tumor", "ORPHA:98059": "Rare digestive tumor", "ORPHA:98060": "Rare respiratory tumor", "ORPHA:98061": "Rare otorhinolaryngologic tumor", "ORPHA:98054": "Rare genetic cardiac disease", "ORPHA:98056": "Rare genetic renal disease", "ORPHA:98057": "Rare tumor", "ORPHA:610573": "CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome", "ORPHA:98068": "OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly", "ORPHA:98069": "OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy", "ORPHA:98062": "Rare nervous system tumor", "ORPHA:98063": "Rare gynecological tumor", "ORPHA:610569": "KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome", "ORPHA:98064": "OBSOLETE: Rare disease in physical medicine and rehabilitation", "ORPHA:98043": "Diaphragmatic or abdominal wall malformation", "ORPHA:98045": "Respiratory or mediastinal malformation", "ORPHA:604680": "Symptomatic form of X-linked centronuclear myopathy in female carriers", "ORPHA:98044": "Central nervous system malformation", "ORPHA:98039": "Digestive tract malformation", "ORPHA:98038": "Cranial malformation", "ORPHA:98041": "Visceral malformation of the liver, biliary tract, pancreas or spleen", "ORPHA:98050": "Rare allergic disease", "ORPHA:98053": "Rare genetic disease", "ORPHA:98052": "Rare allergic respiratory disease", "ORPHA:98047": "Rare infertility", "ORPHA:98049": "Rare female infertility", "ORPHA:98048": "Rare male infertility", "ORPHA:98086": "46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue", "ORPHA:98087": "Syndrome with 46,XY difference of sex development", "ORPHA:98101": "OBSOLETE: Pore-loop channelopathy", "ORPHA:98098": "Autosomal recessive degenerative and progressive cerebellar ataxia", "ORPHA:98099": "Autosomal recessive syndromic cerebellar ataxia", "ORPHA:98096": "Autosomal recessive metabolic cerebellar ataxia", "ORPHA:98097": "Autosomal recessive cerebellar ataxia due to a DNA repair defect", "ORPHA:98095": "Autosomal recessive congenital cerebellar ataxia", "ORPHA:611256": "Pontocerebellar hypoplasia type 12", "ORPHA:611314": "Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome", "ORPHA:611237": "Parkinsonism with polyneuropathy", "ORPHA:611247": "Pontocerebellar hypoplasia type 11", "ORPHA:98074": "Gonadal dysgenesis of gynecological interest", "ORPHA:611216": "Aplastic anemia-intellectual disability-dwarfism syndrome", "ORPHA:98073": "OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia", "ORPHA:611223": "EN1-related dorsoventral syndrome", "ORPHA:611201": "Oculogastrointestinal-neurodevelopmental syndrome", "ORPHA:98071": "OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation", "ORPHA:611207": "Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome", "ORPHA:98070": "OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine", "ORPHA:613267": "Pontocerebellar hypoplasia type 13", "ORPHA:98085": "46,XY difference of sex development", "ORPHA:613274": "Pontocerebellar hypoplasia type 14", "ORPHA:611327": "Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "ORPHA:98078": "46,XX difference of sex development induced by androgens excess", "ORPHA:98255": "Chronic encephalitis", "ORPHA:98258": "Infantile epilepsy syndrome", "ORPHA:98257": "Neonatal epilepsy syndrome", "ORPHA:98260": "Adolescent-onset epilepsy syndrome", "ORPHA:98259": "Childhood-onset epilepsy syndrome", "ORPHA:98261": "Progressive myoclonic epilepsy", "ORPHA:98249": "Ehlers-Danlos syndrome", "ORPHA:600832": "Legionella infection", "ORPHA:98252": "Infectious encephalitis", "ORPHA:98253": "OBSOLETE: Postinfectious encephalitis", "ORPHA:600668": "CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome", "ORPHA:600663": "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance", "ORPHA:600691": "Combined deficiency of factor VII and factor X", "ORPHA:600731": "Clark-Baraitser syndrome", "ORPHA:98290": "Immunodeficiency-associated lymphoproliferative disease", "ORPHA:98289": "Dendritic cell tumor", "ORPHA:98288": "Macrophage or histiocytic tumor", "ORPHA:98287": "Histiocytic and dendritic cell tumor", "ORPHA:98293": "Hodgkin lymphoma", "ORPHA:98292": "Mastocytosis", "ORPHA:98291": "Lymphoproliferative disease associated with primary immune disease", "ORPHA:98282": "Plasma cell tumor", "ORPHA:98274": "Myeloproliferative neoplasm", "ORPHA:98277": "Acute myeloid leukemia with recurrent genetic anomaly", "ORPHA:98275": "Myelodysplastic/myeloproliferative disease", "ORPHA:98267": "Genetic non-syndromic obesity", "ORPHA:98196": "Malformation syndrome with hamartosis", "ORPHA:601028": "Non-syndromic anorectal malformation with rectovaginal fistula", "ORPHA:601033": "Non-syndromic anorectal malformation with H-type fistula", "ORPHA:601008": "Non-syndromic anorectal malformation with anal stenosis", "ORPHA:601013": "Non-syndromic anorectal malformation with pouch colon", "ORPHA:601018": "Non-syndromic anorectal malformation with rectal atresia", "ORPHA:601023": "Non-syndromic anorectal malformation with rectal stenosis", "ORPHA:600984": "Non-syndromic anorectal malformation with rectovesical fistula", "ORPHA:600993": "Non-syndromic anorectal malformation with vestibular fistula", "ORPHA:600998": "Non-syndromic cloacal malformation", "ORPHA:601002": "Non-syndromic anorectal malformation without fistula", "ORPHA:600961": "Non-syndromic anorectal malformation with rectourethral fistula", "ORPHA:600952": "Non-syndromic anorectal malformation with perineal fistula", "ORPHA:600975": "Non-syndromic anorectal malformation with rectourethral fistula, prostatic type", "ORPHA:600966": "Non-syndromic anorectal malformation with rectourethral fistula, bulbar type", "ORPHA:98167": "OBSOLETE: Diabetes associated to exocrine pancreas neoplasia", "ORPHA:98203": "Combined dystonia", "ORPHA:98204": "OBSOLETE: Heredodegenerative disease with dystonia as a major feature", "ORPHA:97245": "Congenital myopathy", "ORPHA:97244": "Rigid spine syndrome", "ORPHA:97242": "Congenital muscular dystrophy", "ORPHA:97261": "GRFoma", "ORPHA:97253": "Neuroendocrine tumor of pancreas", "ORPHA:97252": "Mega-cisterna magna", "ORPHA:97249": "Pontocerebellar hypoplasia type 3", "ORPHA:97279": "Insulinoma", "ORPHA:97278": "PPoma", "ORPHA:97275": "Encephalitis", "ORPHA:97285": "Thyroid lymphoma", "ORPHA:97283": "Somatostatinoma", "ORPHA:97282": "VIPoma", "ORPHA:97280": "Glucagonoma", "ORPHA:97289": "Thymic neuroendocrine tumor", "ORPHA:97290": "Familial papillary thyroid carcinoma with renal papillary neoplasia", "ORPHA:97286": "Carney-Stratakis syndrome", "ORPHA:97287": "Bronchial neuroendocrine tumor", "ORPHA:97293": "Rare benign ovarian tumor", "ORPHA:97295": "Furlong syndrome", "ORPHA:97292": "Cardiogenic shock", "ORPHA:97332": "Kienbock disease", "ORPHA:97335": "Osgood-Schlatter disease", "ORPHA:97297": "Bohring-Opitz syndrome", "ORPHA:97330": "Thoracic outlet syndrome", "ORPHA:97338": "Melanoma of soft tissue", "ORPHA:97339": "Dural sinus malformation", "ORPHA:97336": "Panner disease", "ORPHA:97337": "Sinding-Larsen-Johansson disease", "ORPHA:97341": "Persistent placoid maculopathy", "ORPHA:97340": "Hunter-McAlpine syndrome", "ORPHA:97342": "OBSOLETE: Argyrophilic grain disease", "ORPHA:97346": "ADan amyloidosis", "ORPHA:97345": "ABri amyloidosis", "ORPHA:97349": "Postencephalitic parkinsonism", "ORPHA:97352": "Pellagra", "ORPHA:97354": "NON RARE IN EUROPE: Wernicke encephalopathy", "ORPHA:97353": "Dementia pugilistica", "ORPHA:97360": "Robinow syndrome", "ORPHA:97355": "Caribbean parkinsonism", "ORPHA:97361": "Renal hypoplasia, unilateral", "ORPHA:97362": "Renal hypoplasia, bilateral", "ORPHA:97363": "Unilateral multicystic dysplastic kidney", "ORPHA:97364": "Bilateral multicystic dysplastic kidney", "ORPHA:97365": "NON RARE IN EUROPE: Solitary renal cyst", "ORPHA:97366": "Multiloculated renal cyst", "ORPHA:97367": "Renal tubular dysgenesis due to twin-twin transfusion", "ORPHA:97368": "Drug-related renal tubular dysgenesis", "ORPHA:97369": "Renal tubular dysgenesis of genetic origin", "ORPHA:97548": "Right sided atrial isomerism", "ORPHA:97552": "Steroid-sensitive nephrotic syndrome without renal biopsy", "ORPHA:97555": "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy", "ORPHA:97556": "Congenital and infantile nephrotic syndrome", "ORPHA:97557": "NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis", "ORPHA:97560": "Primary membranous glomerulonephritis", "ORPHA:96183": "Maternal uniparental disomy of chromosome 9 syndrome", "ORPHA:96182": "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7", "ORPHA:96181": "Maternal uniparental disomy of chromosome 6 syndrome", "ORPHA:96180": "Maternal uniparental disomy of chromosome 4 syndrome", "ORPHA:96179": "Maternal uniparental disomy of chromosome 2 syndrome", "ORPHA:96178": "Ring chromosome 16 syndrome", "ORPHA:96177": "Ring chromosome 15 syndrome", "ORPHA:96176": "Ring chromosome 13 syndrome", "ORPHA:96191": "Paternal uniparental disomy of chromosome 6 syndrome", "ORPHA:96190": "Paternal uniparental disomy of chromosome 5 syndrome", "ORPHA:96188": "Maternal uniparental disomy of chromosome 22 syndrome", "ORPHA:96187": "Maternal uniparental disomy of chromosome 21 syndrome", "ORPHA:96186": "Maternal uniparental disomy of chromosome 20 syndrome", "ORPHA:96185": "Maternal uniparental disomy of chromosome 16 syndrome", "ORPHA:96184": "Temple syndrome due to maternal uniparental disomy of chromosome 14", "ORPHA:96194": "Paternal uniparental disomy of chromosome 20 syndrome", "ORPHA:96195": "Paternal uniparental disomy of chromosome 21 syndrome", "ORPHA:96192": "Paternal uniparental disomy of chromosome 7 syndrome", "ORPHA:96193": "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11", "ORPHA:96256": "Somatotropic adenoma", "ORPHA:96210": "Rare genetic deafness", "ORPHA:96253": "Cushing disease", "ORPHA:96201": "X small rings syndrome", "ORPHA:96321": "Polyploidy syndrome", "ORPHA:96269": "Isolated partial vaginal agenesis", "ORPHA:96264": "49,XXXXY syndrome", "ORPHA:96263": "48,XXXY syndrome", "ORPHA:96266": "Leydig cell hypoplasia due to partial LH resistance", "ORPHA:96265": "Leydig cell hypoplasia due to complete LH resistance", "ORPHA:96344": "Rare gynecologic or obstetric disease", "ORPHA:96346": "Anorectal malformation", "ORPHA:96325": "Isochromosome Y syndrome", "ORPHA:96334": "Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14", "ORPHA:96333": "Rare otorhinolaryngological malformation", "ORPHA:97120": "Distal arthrogryposis", "ORPHA:97214": "Eisenmenger syndrome", "ORPHA:96369": "OBSOLETE: Early-onset schizophrenia", "ORPHA:97234": "Glycogen storage disease due to phosphoglycerate mutase deficiency", "ORPHA:97238": "Rippling muscle disease", "ORPHA:97239": "Reducing body myopathy", "ORPHA:97240": "Zebra body myopathy", "ORPHA:97229": "Riboflavin transporter deficiency", "ORPHA:97230": "Solar urticaria", "ORPHA:97231": "Ligneous conjunctivitis", "ORPHA:97232": "Fingerprint body myopathy", "ORPHA:97978": "Rare endocrine disease", "ORPHA:98004": "Rare immune disease", "ORPHA:97992": "Rare hematologic disease", "ORPHA:98006": "Rare neurologic disease", "ORPHA:600194": "Factor V Atlanta bleeding disorder", "ORPHA:98010": "Infectious disease of the nervous system", "ORPHA:98033": "Rare neurologic disease with psychiatric involvement", "ORPHA:98036": "Rare otorhinolaryngologic disease", "ORPHA:98023": "Rare systemic or rheumatologic disease", "ORPHA:98022": "Rare headache", "ORPHA:98027": "Rare disease with odontological manifestation", "ORPHA:98026": "Rare odontologic disease", "ORPHA:98028": "Rare circulatory system disease", "ORPHA:97678": "Maternal uniparental disomy of chromosome 13 syndrome", "ORPHA:97599": "OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis", "ORPHA:97668": "OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency", "ORPHA:97598": "Congenital renal artery stenosis", "ORPHA:97593": "Pseudohypoparathyroidism", "ORPHA:97567": "Immunotactoid glomerulopathy", "ORPHA:97569": "OBSOLETE: Unclassified glomerulonephritis", "ORPHA:97564": "Pauci-immune glomerulonephritis without ANCA", "ORPHA:97566": "Non-amyloid fibrillary glomerulopathy", "ORPHA:97562": "NON RARE IN EUROPE: Benign familial hematuria", "ORPHA:97563": "Pauci-immune glomerulonephritis with ANCA", "ORPHA:97935": "Rare gastroenterologic disease", "ORPHA:97929": "Rare cardiac disease", "ORPHA:97927": "OBSOLETE: Peripheral resistance to thyroid hormones", "ORPHA:97685": "17q11 microdeletion syndrome", "ORPHA:97955": "Rare respiratory disease", "ORPHA:97945": "Intestinal malformation", "ORPHA:97944": "Gastroduodenal malformation", "ORPHA:97966": "Rare ophthalmic disorder", "ORPHA:97962": "Rare surgical thoracic disease", "ORPHA:97965": "Rare surgical cardiac disease", "ORPHA:97957": "Respiratory or thoracic malformation", "ORPHA:95707": "Idiopathic isolated micropenis", "ORPHA:95708": "Rare precocious puberty", "ORPHA:95706": "Non-syndromic posterior hypospadias", "ORPHA:95701": "OBSOLETE: Congenital adrenal hypoplasia of maternal cause", "ORPHA:95702": "X-linked adrenal hypoplasia congenita", "ORPHA:95715": "Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies", "ORPHA:95716": "Familial thyroid dyshormonogenesis", "ORPHA:95713": "Athyreosis", "ORPHA:95714": "Primary congenital hypothyroidism without thyroid developmental anomaly", "ORPHA:95711": "Congenital hypothyroidism due to developmental anomaly", "ORPHA:95712": "Thyroid ectopia", "ORPHA:95709": "Rare acquired premature ovarian failure", "ORPHA:95710": "Rare non-acquired premature ovarian failure", "ORPHA:95622": "OBSOLETE: Radiation-induced hypopituitarism", "ORPHA:95621": "OBSOLETE: Postsurgical hypopituitarism", "ORPHA:95619": "Post-traumatic pituitary deficiency", "ORPHA:95618": "Pituitary hormone deficiency secondary to storage disease", "ORPHA:95617": "Pituitary hormone deficiency secondary to a granulomatous disease", "ORPHA:95615": "OBSOLETE: Pituitary deficiency secondary to an anevrysm", "ORPHA:95614": "OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage", "ORPHA:95613": "Pituitary apoplexy", "ORPHA:95700": "Familial adrenal hypoplasia with absent pituitary luteinizing hormone", "ORPHA:95699": "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency", "ORPHA:95698": "NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "ORPHA:95626": "Acquired arginine vasopressin deficiency", "ORPHA:95625": "OBSOLETE: Posttraumatic diabetes insipidus", "ORPHA:95623": "OBSOLETE: Posttraumatic hypopituitarism", "ORPHA:95504": "OBSOLETE: Metastatic pituitary hormone deficiency", "ORPHA:95505": "Pituitary hormone deficiency of meningeal origin", "ORPHA:95506": "Primary hypophysitis", "ORPHA:95507": "Congenital anomaly of hepatic vein", "ORPHA:95500": "Congenital anomaly of the coronary sinus", "ORPHA:95501": "OBSOLETE: Congenital central diabetes insipidus", "ORPHA:95502": "Acquired pituitary hormone deficiency", "ORPHA:95503": "Pituitary hormone deficiency of tumoral origin", "ORPHA:95512": "Adenohypophysitis", "ORPHA:95513": "Panhypophysitis", "ORPHA:95611": "Pituitary hormone deficiency of vascular origin", "ORPHA:95510": "Atrial appendage anomaly", "ORPHA:95488": "Non-acquired pituitary hormone deficiency", "ORPHA:95491": "Congenital coronary artery aneurysm", "ORPHA:95485": "Arterial duct anomaly", "ORPHA:95484": "OBSOLETE: Aneurysm or dilatation of ascending aorta", "ORPHA:95487": "NON RARE IN EUROPE: Atypical arterial duct", "ORPHA:95486": "Premature closure of the arterial duct", "ORPHA:95496": "Pituitary stalk interruption syndrome", "ORPHA:95499": "Congenital anomaly of the inferior vena cava", "ORPHA:95498": "Congenital anomaly of superior vena cava", "ORPHA:95493": "OBSOLETE: Abnormal origin or aberrant course of coronary artery", "ORPHA:95495": "Disease associated with non-acquired combined pituitary hormone deficiency", "ORPHA:95494": "Combined pituitary hormone deficiencies, genetic forms", "ORPHA:95443": "Mesocardia", "ORPHA:95448": "Congenital aortic valve atresia", "ORPHA:95433": "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome", "ORPHA:95434": "Autosomal recessive cerebellar ataxia-movement disorder syndrome", "ORPHA:95457": "Tricuspid valve agenesis", "ORPHA:95458": "OBSOLETE: Tricuspid valve prolapse", "ORPHA:95449": "OBSOLETE: Congenital aortic valve insufficiency", "ORPHA:95455": "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum", "ORPHA:95462": "Accessory tricuspid valve tissue", "ORPHA:95463": "Anomaly of the tricuspid subvalvular apparatus", "ORPHA:95459": "Congenital tricuspid stenosis", "ORPHA:95461": "Straddling or overriding tricuspid valve", "ORPHA:95474": "Double-orifice mitral valve", "ORPHA:95483": "Univentricular cardiopathy", "ORPHA:95464": "Congenital mitral valve insufficiency and/or stenosis", "ORPHA:95465": "Cleft mitral valve", "ORPHA:95157": "Acute hepatic porphyria", "ORPHA:95232": "Lissencephaly due to LIS1 mutation", "ORPHA:95161": "OBSOLETE: Chronic hepatic porphyria", "ORPHA:95159": "Hepatoerythropoietic porphyria", "ORPHA:95428": "COG8-CDG", "ORPHA:95427": "Secondary short bowel syndrome", "ORPHA:95426": "OBSOLETE: Chronic pain requiring intraspinal analgesia", "ORPHA:95409": "Acute adrenal insufficiency", "ORPHA:95432": "Primary progressive aphasia", "ORPHA:95431": "Twin to twin transfusion syndrome", "ORPHA:95430": "Congenital tracheomalacia", "ORPHA:95429": "Angioma serpiginosum", "ORPHA:94091": "Mills syndrome", "ORPHA:94093": "Neuroleptic malignant syndrome", "ORPHA:94095": "OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome", "ORPHA:94122": "Cerebellar ataxia, Cayman type", "ORPHA:94124": "Spinocerebellar ataxia with axonal neuropathy type 1", "ORPHA:94125": "Recessive mitochondrial ataxia syndrome", "ORPHA:94145": "Autosomal dominant cerebellar ataxia type I", "ORPHA:94147": "Spinocerebellar ataxia type 7", "ORPHA:94148": "Autosomal dominant cerebellar ataxia type III", "ORPHA:94149": "Autosomal dominant cerebellar ataxia type IV", "ORPHA:94150": "Anonychia congenita totalis", "ORPHA:94064": "Deafness-infertility syndrome", "ORPHA:94063": "12q14 microdeletion syndrome", "ORPHA:94066": "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia", "ORPHA:94065": "15q24 microdeletion syndrome", "ORPHA:94068": "Spondyloepiphyseal dysplasia congenita", "ORPHA:94075": "Severe immune-mediated enteropathy", "ORPHA:94083": "Partington syndrome", "ORPHA:94080": "Non-functioning paraganglioma", "ORPHA:94086": "Blue diaper syndrome", "ORPHA:94084": "Cerebro-oculo-facial-lymphatic syndrome", "ORPHA:94088": "Hereditary renal hypouricemia", "ORPHA:94087": "Cytophagic histiocytic panniculitis", "ORPHA:94090": "Pseudohypoparathyroidism type 2", "ORPHA:94089": "Pseudohypoparathyroidism type 1B", "ORPHA:96175": "Ring chromosome 11 syndrome", "ORPHA:96173": "Ring chromosome 9 syndrome", "ORPHA:96172": "Ring chromosome 3 syndrome", "ORPHA:96171": "Ring chromosome 2 syndrome", "ORPHA:96170": "Emanuel syndrome", "ORPHA:96169": "Koolen-De Vries syndrome", "ORPHA:96168": "Monosomy 13q34 syndrome", "ORPHA:96167": "Recombinant 8 syndrome", "ORPHA:96164": "OBSOLETE: Non-distal monosomy 20q", "ORPHA:96160": "Non-distal deletion 12q syndrome", "ORPHA:96152": "OBSOLETE: Distal monosomy 20q", "ORPHA:96150": "Distal deletion 14q syndrome", "ORPHA:96148": "Distal deletion 10q syndrome", "ORPHA:96149": "Distal deletion 12q syndrome", "ORPHA:96147": "Kleefstra syndrome due to 9q34 microdeletion", "ORPHA:96145": "Distal deletion 4q syndrome", "ORPHA:96136": "OBSOLETE: Non-distal monosomy 7p", "ORPHA:96129": "Distal deletion 19p syndrome", "ORPHA:96125": "Distal deletion 6p syndrome", "ORPHA:96126": "Distal deletion 7p syndrome", "ORPHA:96121": "7q11.23 microduplication syndrome", "ORPHA:96123": "Monosomy 22 syndrome", "ORPHA:96112": "Non-distal duplication 9q syndrome", "ORPHA:96107": "Distal duplication 20q syndrome", "ORPHA:96106": "Distal duplication 16q syndrome", "ORPHA:96105": "Distal duplication 13q syndrome", "ORPHA:96109": "Distal duplication 22q syndrome", "ORPHA:96098": "Distal duplication 6q syndrome", "ORPHA:96097": "Distal duplication 5q syndrome", "ORPHA:96096": "Distal duplication 4q syndrome", "ORPHA:96103": "Distal duplication 11q syndrome", "ORPHA:96102": "Distal duplication 10q syndrome", "ORPHA:96101": "Distal duplication 9q syndrome", "ORPHA:96100": "Distal duplication 8q syndrome", "ORPHA:96094": "Distal duplication 2q syndrome", "ORPHA:96095": "3q26 microduplication syndrome", "ORPHA:96092": "8p inverted duplication/deletion syndrome", "ORPHA:96072": "4p16.3 microduplication syndrome", "ORPHA:96074": "Distal duplication 7p syndrome", "ORPHA:96076": "Beckwith-Wiedemann syndrome due to 11p15 microduplication", "ORPHA:96078": "16p13.3 microduplication syndrome", "ORPHA:96069": "Distal duplication 1p36 syndrome", "ORPHA:96068": "Mosaic trisomy 22 syndrome", "ORPHA:96071": "Distal duplication 3p syndrome", "ORPHA:96070": "Distal duplication 2p syndrome", "ORPHA:96059": "Mosaic trisomy 4 syndrome", "ORPHA:96060": "Mosaic trisomy 5 syndrome", "ORPHA:96061": "Mosaic trisomy 8 syndrome", "ORPHA:96063": "Mosaic trisomy 10 syndrome", "ORPHA:95717": "Idiopathic congenital hypothyroidism", "ORPHA:95718": "Congenital thyroid malformation without hypothyroidism", "ORPHA:95719": "Thyroid hemiagenesis", "ORPHA:95720": "Thyroid hypoplasia", "ORPHA:95721": "OBSOLETE: Thyroid pyramidal lobe", "ORPHA:95854": "Levocardia", "ORPHA:96055": "Tetrasomy 21 syndrome", "ORPHA:597623": "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome", "ORPHA:93547": "Syndromic renal or urinary tract malformation", "ORPHA:93546": "Non-syndromic renal or urinary tract malformation", "ORPHA:597733": "Oculocutaneous albinism type 8", "ORPHA:597738": "Luscan-Lumish syndrome", "ORPHA:93548": "Glomerular disease", "ORPHA:93545": "Renal or urinary tract malformation", "ORPHA:597887": "ALPI-related inflammatory bowel disease", "ORPHA:93555": "Mixed cryoglobulinemia type III", "ORPHA:93554": "Mixed cryoglobulinemia type II", "ORPHA:93557": "Light and heavy chain deposition disease", "ORPHA:597939": "Euthyroid dysprealbuminemic hyperthyroxinemia", "ORPHA:93556": "Heavy chain deposition disease", "ORPHA:597743": "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome", "ORPHA:93551": "OBSOLETE: Secondary glomerular disease", "ORPHA:597746": "Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome", "ORPHA:93550": "OBSOLETE: Basement membrane disease", "ORPHA:597749": "KAT6B-related multiple congenital anomalies syndrome", "ORPHA:93552": "Pediatric systemic lupus erythematosus", "ORPHA:597874": "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome", "ORPHA:93562": "AFib amyloidosis", "ORPHA:598216": "Upper tract urothelial carcinoma", "ORPHA:93564": "OBSOLETE: Pediatric polyarteritis nodosa", "ORPHA:598603": "Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome", "ORPHA:598363": "Multisystem inflammatory syndrome in children and adults", "ORPHA:93558": "Light chain deposition disease", "ORPHA:93559": "C3 deposition glomerulonephritis without proliferation", "ORPHA:598164": "FOXG1 syndrome due to intragenic alteration", "ORPHA:93560": "AApoAI amyloidosis", "ORPHA:93561": "ALys amyloidosis", "ORPHA:93571": "Dense deposit disease", "ORPHA:93573": "Thrombotic microangiopathy", "ORPHA:93566": "OBSOLETE: Pediatric Sjögren syndrome", "ORPHA:93567": "OBSOLETE: Pediatric systemic sclerosis", "ORPHA:93568": "Juvenile polymyositis", "ORPHA:93569": "NON RARE IN EUROPE: Polymyalgia rheumatica", "ORPHA:93448": "Lysosomal storage disease with skeletal involvement", "ORPHA:597201": "TRIM22-related inflammatory bowel disease", "ORPHA:93447": "Primary bone dysplasia with defective bone mineralization", "ORPHA:93446": "Primary bone dysplasia with decreased bone density", "ORPHA:93445": "OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement", "ORPHA:93444": "Primary bone dysplasia with increased bone density", "ORPHA:93443": "Neonatal osteosclerotic dysplasia", "ORPHA:93442": "Chondrodysplasia punctata", "ORPHA:93441": "Primary bone dysplasia with multiple joint dislocations", "ORPHA:93456": "OBSOLETE: Brachydactyly group", "ORPHA:93455": "Patellar dysostosis", "ORPHA:93454": "Dysostosis with predominant vertebral and costal involvement", "ORPHA:93453": "Dysostosis with predominant craniofacial involvement", "ORPHA:93452": "OBSOLETE: Craniosynostosis syndrome or cranial ossification disease", "ORPHA:93451": "Cleidocranial dysplasia and isolated cranial ossification defect", "ORPHA:93450": "Primary bone dysplasia with disorganized development of skeletal components", "ORPHA:93449": "Primary osteolysis", "ORPHA:93465": "Lethal chondrodysplasia", "ORPHA:93461": "Chromosomal disease with overgrowth", "ORPHA:93459": "Syndrome with synostosis or other joint formation defect", "ORPHA:93460": "Overgrowth syndrome", "ORPHA:93457": "Non-syndromic limb reduction defect", "ORPHA:93458": "Non-syndromic polydactyly, syndactyly and/or hyperphalangy", "ORPHA:93474": "Scheie syndrome", "ORPHA:93476": "Hurler-Scheie syndrome", "ORPHA:93472": "OBSOLETE: Dysmorphic syndrome associated with bone anomaly", "ORPHA:93473": "Hurler syndrome", "ORPHA:93470": "OBSOLETE: Dysharmonic micromelia", "ORPHA:93471": "OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly", "ORPHA:93466": "OBSOLETE: Limb-girdle bone anomaly", "ORPHA:93469": "OBSOLETE: Harmonic micromelia", "ORPHA:93399": "Juvenile sialidosis type 2", "ORPHA:93398": "Genochondromatosis type 2", "ORPHA:93400": "Congenital sialidosis type 2", "ORPHA:599373": "STXBP1-related encephalopathy", "ORPHA:93403": "Syndactyly type 2", "ORPHA:599376": "Hypomyelination of early myelinating structures", "ORPHA:93402": "Syndactyly type 1", "ORPHA:93405": "Syndactyly type 4", "ORPHA:599418": "Hereditary angioedema with normal C1Inh not related to F12 or PLG variant", "ORPHA:93404": "Syndactyly type 3", "ORPHA:599480": "Acquired hemophilia A", "ORPHA:599485": "Acquired hemophilia B", "ORPHA:93406": "Syndactyly type 5", "ORPHA:599490": "Acquired factor V deficiency", "ORPHA:93409": "Brachydactyly-syndactyly, Zhao type", "ORPHA:599495": "Acquired factor VII deficiency", "ORPHA:599501": "Acquired factor X deficiency", "ORPHA:93419": "Rare bone disease", "ORPHA:599507": "Acquired factor XI deficiency", "ORPHA:599513": "Acquired factor XIII deficiency", "ORPHA:93421": "Type 2 collagen-related bone disorder", "ORPHA:599519": "Factor V short isoforms-related bleeding disorder", "ORPHA:93420": "FGFR3-related chondrodysplasia", "ORPHA:599579": "Factor V Amsterdam bleeding disorder", "ORPHA:93422": "Type 11 collagen-related bone disorder", "ORPHA:93423": "Sulfation-related bone disorder", "ORPHA:93424": "OBSOLETE: Perlecan-related bone disorder", "ORPHA:93425": "Filamin-related bone disorder", "ORPHA:93426": "Ciliopathies with major skeletal involvement", "ORPHA:93427": "OBSOLETE: Metatropic dysplasias", "ORPHA:93429": "Multiple epiphyseal dysplasia and pseudoachondroplasia", "ORPHA:93430": "Multiple metaphyseal dysplasia", "ORPHA:93434": "Spondylodysplastic dysplasia", "ORPHA:93435": "OBSOLETE: Moderate spondylodysplastic dysplasia", "ORPHA:93436": "Acromelic dysplasia", "ORPHA:93437": "Acromesomelic dysplasia", "ORPHA:93438": "Mesomelic and rhizo-mesomelic dysplasia", "ORPHA:93439": "Campomelic dysplasia and related disorders", "ORPHA:93440": "Slender bone dysplasia", "ORPHA:93360": "Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type", "ORPHA:93359": "OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity", "ORPHA:93358": "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome", "ORPHA:93357": "SPONASTRIME dysplasia", "ORPHA:93365": "OBSOLETE: CINCA syndrome with NLRP3 mutations", "ORPHA:599082": "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome", "ORPHA:93367": "OBSOLETE: CINCA syndrome without NLRP3 mutations", "ORPHA:93372": "Familial hypocalciuric hypercalcemia type 1", "ORPHA:93382": "Brachydactyly type A6", "ORPHA:93383": "Brachydactyly type B", "ORPHA:93387": "Brachydactyly type E", "ORPHA:93388": "Brachydactyly type A1", "ORPHA:93384": "Brachydactyly type C", "ORPHA:93385": "NON RARE IN EUROPE: Brachydactyly type D", "ORPHA:93393": "NON RARE IN EUROPE: Brachydactyly type A3", "ORPHA:93389": "Brachydactyly type A5", "ORPHA:93396": "Brachydactyly type A2", "ORPHA:93397": "Brachydactyly type A7", "ORPHA:93394": "Brachydactyly type A4", "ORPHA:93395": "Ballard syndrome", "ORPHA:595356": "Localized dystrophic epidermolysis bullosa", "ORPHA:93968": "Meningocele", "ORPHA:93969": "Open spinal dysraphism with a myelomeningocele", "ORPHA:595337": "Adrenal hypoplasia congenita", "ORPHA:93962": "OBSOLETE: Cervical dystonia", "ORPHA:93963": "OBSOLETE: Autosomal dominant focal dystonia, DYT7 type", "ORPHA:595351": "Epidermolysis bullosa simplex with extracutaneous involvement", "ORPHA:93964": "Blepharospasm-oromandibular dystonia syndrome", "ORPHA:595346": "Epidermolysis bullosa simplex without extracutaneous involvement", "ORPHA:93958": "Oromandibular dystonia", "ORPHA:595216": "Fibrous dysplasia/McCune-Albright syndrome", "ORPHA:93961": "OBSOLETE: Laryngeal dyskinesia", "ORPHA:93955": "OBSOLETE: Benign essential blepharospasm", "ORPHA:93956": "OBSOLETE: Truncal dystonia", "ORPHA:93957": "OBSOLETE: Limb dystonia", "ORPHA:94059": "Uremic pruritus", "ORPHA:94062": "NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome", "ORPHA:94061": "OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome", "ORPHA:94058": "Neovascular glaucoma", "ORPHA:94056": "Isolated humero-ulnar synostosis", "ORPHA:93975": "OBSOLETE: Renier-Gabreels-Jasper syndrome", "ORPHA:93974": "Smith-Fineman-Myers syndrome", "ORPHA:93976": "Anotia", "ORPHA:93971": "Chudley-Lowry-Hoar syndrome", "ORPHA:93970": "Holmes-Gang syndrome", "ORPHA:93973": "Carpenter-Waziri syndrome", "ORPHA:93972": "Juberg-Marsidi syndrome", "ORPHA:93932": "FG syndrome type 1", "ORPHA:93930": "Bladder exstrophy", "ORPHA:93928": "Isolated epispadias", "ORPHA:93929": "Cloacal exstrophy", "ORPHA:93926": "Midline interhemispheric variant of holoprosencephaly", "ORPHA:93924": "Lobar holoprosencephaly", "ORPHA:93925": "Alobar holoprosencephaly", "ORPHA:93921": "Full schwannomatosis", "ORPHA:93953": "Familial thyroglossal duct cyst", "ORPHA:93952": "X-linked intellectual disability, Hedera type", "ORPHA:595109": "Atypical Timothy syndrome", "ORPHA:93951": "OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome", "ORPHA:595133": "Perivascular epithelioid cell neoplasm", "ORPHA:93950": "X-linked intellectual disability, Sutherland-Haan type", "ORPHA:595098": "Timothy syndrome type 1", "ORPHA:93947": "X-linked intellectual disability, Golabi-Ito-Hall type", "ORPHA:595105": "Timothy syndrome type 2", "ORPHA:93946": "Hamel cerebro-palato-cardiac syndrome", "ORPHA:93945": "X-linked intellectual disability, Porteous type", "ORPHA:93944": "X-linked intellectual disability, Fichera type", "ORPHA:93943": "Corpus callosum dysgenesis-hypopituitarism syndrome", "ORPHA:93942": "OBSOLETE: Superior celosomia", "ORPHA:93941": "Laryngotracheoesophageal cleft type 4", "ORPHA:93940": "Laryngotracheoesophageal cleft type 3", "ORPHA:93939": "Laryngotracheoesophageal cleft type 2", "ORPHA:93938": "Laryngotracheoesophageal cleft type 1", "ORPHA:93937": "OBSOLETE: Terminal transverse defects of arm", "ORPHA:93626": "Rare renal disease", "ORPHA:93665": "Autoinflammatory syndrome", "ORPHA:93668": "OBSOLETE: Adult chronic recurrent multifocal osteomyelitis", "ORPHA:93616": "Hemoglobin H disease", "ORPHA:93618": "Rare cause of hypertension", "ORPHA:93619": "Rare renal tumor", "ORPHA:93622": "Dent disease type 1", "ORPHA:93623": "Dent disease type 2", "ORPHA:93682": "OBSOLETE: Pediatric Castleman disease", "ORPHA:93672": "Juvenile dermatomyositis", "ORPHA:93686": "OBSOLETE: Multicentric Castleman disease", "ORPHA:93685": "Unicentric Castleman disease", "ORPHA:93890": "Rare developmental defect during embryogenesis", "ORPHA:93688": "OBSOLETE: Non-idiopathic juvenile arthritis", "ORPHA:93591": "Infantile nephronophthisis", "ORPHA:93592": "Juvenile nephronophthisis", "ORPHA:93587": "Genetic cystic renal disease", "ORPHA:93589": "Late-onset nephronophthisis", "ORPHA:596426": "Syndrome of reduced sensitivity to thyroid hormone", "ORPHA:93598": "Primary hyperoxaluria type 1", "ORPHA:93593": "Nephropathy secondary to a storage or other metabolic disease", "ORPHA:93594": "OBSOLETE: Alpha-1-antichymotrypsin deficiency", "ORPHA:93578": "OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly", "ORPHA:596008": "Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis", "ORPHA:93579": "OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly", "ORPHA:93575": "OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly", "ORPHA:93576": "OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly", "ORPHA:93583": "Congenital thrombotic thrombocytopenic purpura", "ORPHA:93585": "Immune-mediated thrombotic thrombocytopenic purpura", "ORPHA:93580": "OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly", "ORPHA:93581": "Atypical hemolytic uremic syndrome with anti-factor H antibodies", "ORPHA:93610": "Distal renal tubular acidosis with anemia", "ORPHA:93609": "Autosomal recessive distal renal tubular acidosis without deafness", "ORPHA:596759": "Combined immunodeficiency due to RELA haploinsufficiency", "ORPHA:93608": "Autosomal dominant distal renal tubular acidosis", "ORPHA:93607": "Autosomal recessive proximal renal tubular acidosis", "ORPHA:93614": "Hematological disorder with renal involvement", "ORPHA:93613": "Cystinuria type B", "ORPHA:596937": "Portosinusoidal vascular disease", "ORPHA:93612": "Cystinuria type A", "ORPHA:596941": "Incomplete septal cirrhosis", "ORPHA:93611": "Autosomal recessive distal renal tubular acidosis with deafness", "ORPHA:93602": "Xanthinuria type II", "ORPHA:93601": "Xanthinuria type I", "ORPHA:596448": "IgG4-related systemic disease", "ORPHA:93600": "Primary hyperoxaluria type 3", "ORPHA:93599": "Primary hyperoxaluria type 2", "ORPHA:93606": "Nephrogenic syndrome of inappropriate antidiuresis", "ORPHA:596753": "VEXAS syndrome", "ORPHA:93605": "Bartter syndrome type 3", "ORPHA:93604": "OBSOLETE: Antenatal Bartter syndrome", "ORPHA:93603": "Rare renal tubular disease", "ORPHA:99092": "Interventricular septum aneurysm", "ORPHA:99094": "Laubry-Pezzi syndrome", "ORPHA:99087": "Coronary ostial stenosis or atresia", "ORPHA:99088": "OBSOLETE: Intramural coronary arterial course", "ORPHA:99089": "Abnormal number of coronary ostia", "ORPHA:99090": "Malposition of a coronary ostium", "ORPHA:99083": "Pulmonary artery hypoplasia", "ORPHA:99084": "Peripheral pulmonary stenosis", "ORPHA:99085": "OBSOLETE: Coronary artery intramyocardial course", "ORPHA:99086": "OBSOLETE: Aortopulmonary coronary arterial course", "ORPHA:99079": "Cervical aortic arch", "ORPHA:99081": "Right aortic arch", "ORPHA:99082": "Dysphagia lusoria", "ORPHA:99076": "Persistent fifth aortic arch", "ORPHA:99075": "Encircling double aortic arch", "ORPHA:99078": "Neuhauser anomaly", "ORPHA:99077": "Kommerell diverticulum", "ORPHA:99072": "Congenital patent ductus arteriosus aneurysm", "ORPHA:99071": "Aorto-left ventricular tunnel", "ORPHA:99068": "Complete atrioventricular septal defect-tetralogy of Fallot", "ORPHA:99067": "Complete atrioventricular septal defect with ventricular hypoplasia", "ORPHA:99070": "Aorto-right ventricular tunnel", "ORPHA:99069": "OBSOLETE: Univentricular heart with single atrio-ventricular valve", "ORPHA:99064": "Straddling and/or overriding mitral valve", "ORPHA:99063": "Shone complex", "ORPHA:99066": "OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome", "ORPHA:99125": "Congenital total pulmonary venous return anomaly", "ORPHA:99126": "Congenital pulmonary vein atresia", "ORPHA:99123": "Inferior vena cava interruption without azygos continuation", "ORPHA:99124": "Congenital partial pulmonary venous return anomaly", "ORPHA:99121": "Azygos continuation of the inferior vena cava", "ORPHA:99122": "Congenital stenosis of the inferior vena cava", "ORPHA:99119": "Right inferior vena cava connecting to left-sided atrium", "ORPHA:99120": "Persistent eustachian valve", "ORPHA:99117": "Coronary sinus stenosis", "ORPHA:99118": "Coronary sinus atresia", "ORPHA:99113": "Subaortic course of innominate vein", "ORPHA:99114": "Agenesis of the superior vena cava", "ORPHA:99111": "Persistent left superior vena cava connecting to the roof of left-sided atrium", "ORPHA:99112": "Absence of innominate vein", "ORPHA:99110": "Right superior vena cava connecting to left-sided atrium", "ORPHA:99109": "Persistent left superior vena cava connecting through coronary sinus to left-sided atrium", "ORPHA:99108": "NON RARE IN EUROPE: Patent foramen ovale", "ORPHA:99107": "Atrial septal aneurysm", "ORPHA:99106": "Atrial septal defect, ostium primum type", "ORPHA:99105": "Atrial septal defect, sinus venosus type", "ORPHA:99104": "Atrial septal defect, coronary sinus type", "ORPHA:99103": "Atrial septal defect, ostium secundum type", "ORPHA:99102": "Ectasia of the left atrial appendage", "ORPHA:99101": "Ectasia of the right atrial appendage", "ORPHA:99100": "Juxtaposition of the atrial appendages", "ORPHA:99099": "Cor triatriatum sinister", "ORPHA:99098": "Cor triatriatum dexter", "ORPHA:99097": "OBSOLETE: Single ventricular septal defect", "ORPHA:99096": "OBSOLETE: Multiple ventricular septal defects", "ORPHA:99095": "Congenital Gerbode defect", "ORPHA:99151": "NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging", "ORPHA:99143": "OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome", "ORPHA:99146": "OBSOLETE: Platelet function disease associated with renal insufficiency", "ORPHA:99147": "Acquired von Willebrand syndrome", "ORPHA:592850": "Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies", "ORPHA:592856": "Neuromyelitis optica spectrum disorder with anti-MOG antibodies", "ORPHA:99135": "6-phosphogluconate dehydrogenase deficiency", "ORPHA:592869": "Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies", "ORPHA:99138": "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction", "ORPHA:592873": "Acute transverse myelitis with anti-MOG antibodies", "ORPHA:592885": "OBSOLETE: Isolated optic neuritis without anti-MOG antibodies", "ORPHA:592888": "OBSOLETE: Isolated optic neuritis with anti-MOG antibodies", "ORPHA:99139": "Unstable hemoglobin disease", "ORPHA:592894": "Acute disseminated encephalomyelitis with anti-MOG antibodies", "ORPHA:99142": "Microcephaly-cutis verticis gyrata-lymphedema syndrome", "ORPHA:592900": "Acute disseminated encephalomyelitis without anti-MOG antibodies", "ORPHA:99141": "Lymphedema-posterior choanal atresia syndrome", "ORPHA:99130": "Congenital partial agenesis of pericardium", "ORPHA:99129": "Congenital complete agenesis of pericardium", "ORPHA:99131": "Pleuro-pericardial cyst", "ORPHA:99134": "OBSOLETE: Intermediate stomatocytosis syndrome", "ORPHA:99329": "48,XYYY syndrome", "ORPHA:99330": "49,XYYYY syndrome", "ORPHA:99228": "Mosaic monosomy X syndrome", "ORPHA:99324": "Paternal uniparental disomy of chromosome 13 syndrome", "ORPHA:99361": "Familial medullary thyroid carcinoma", "ORPHA:99177": "Isolated distichiasis", "ORPHA:99176": "Congenital eyelid retraction", "ORPHA:99226": "Monosomy X syndrome", "ORPHA:99179": "Kandori fleck retina", "ORPHA:99170": "Tarsal kink syndrome", "ORPHA:99169": "Epiblepharon", "ORPHA:99172": "Euryblepharon", "ORPHA:99171": "Isolated congenital ectropion", "ORPHA:99166": "NON RARE IN EUROPE: Familial combined hyperlipoproteinemia", "ORPHA:99657": "Primary dystonia, DYT2 type", "ORPHA:99651": "OBSOLETE: Non-pore-loop channelopathy involved in other renal tubular disorder", "ORPHA:99654": "OBSOLETE: Fibrocalculous pancreatopathy", "ORPHA:99664": "OBSOLETE: Trochlear nerve palsy", "ORPHA:99663": "OBSOLETE: Vestibular torticollis", "ORPHA:99666": "OBSOLETE: Atlantoaxial subluxation", "ORPHA:99665": "NON RARE IN EUROPE: Ventral hernia", "ORPHA:99662": "OBSOLETE: Posterior fossa tumors", "ORPHA:99429": "Complete androgen insensitivity syndrome", "ORPHA:99642": "Spondyloepimetaphyseal dysplasia, Handigodu type", "ORPHA:99408": "Pituitary adenoma", "ORPHA:99413": "Turner syndrome due to structural X chromosome anomalies", "ORPHA:99647": "Cheirospondyloenchondromatosis", "ORPHA:99648": "OBSOLETE: Non-progressive congenital heart block", "ORPHA:99649": "OBSOLETE: Generalized epilepsy and praxis-induced seizures", "ORPHA:99650": "OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsy", "ORPHA:99645": "Dappled diaphyseal dysplasia", "ORPHA:99646": "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria", "ORPHA:99688": "Dermotrichic syndrome", "ORPHA:592574": "Menke-Hennekam syndrome", "ORPHA:592564": "GNAO1-related developmental delay-seizures-movement disorder spectrum", "ORPHA:592570": "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome", "ORPHA:99694": "Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome", "ORPHA:99672": "Fried's tooth and nail syndrome", "ORPHA:99715": "MASS syndrome", "ORPHA:99718": "Leber plus disease", "ORPHA:590539": "Isolated melanotic schwannoma", "ORPHA:99722": "OBSOLETE: Sporadic achalasia", "ORPHA:99723": "OBSOLETE: Familial esophageal achalasia", "ORPHA:99725": "Pituitary gigantism", "ORPHA:589821": "Congenital-onset Steinert myotonic dystrophy", "ORPHA:589746": "Inherited gynecological cancer-predisposing syndrome", "ORPHA:589827": "Juvenile-onset Steinert myotonic dystrophy", "ORPHA:99701": "Mesial temporal lobe epilepsy with hippocampal sclerosis", "ORPHA:589824": "Childhood-onset Steinert myotonic dystrophy", "ORPHA:589833": "Late-onset Steinert myotonic dystrophy", "ORPHA:589830": "Adult-onset Steinert myotonic dystrophy", "ORPHA:99704": "Early-onset obesity-hyperphagia-severe developmental delay syndrome", "ORPHA:589905": "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome", "ORPHA:589856": "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome", "ORPHA:99706": "OBSOLETE: Progeria-associated arthropathy", "ORPHA:99710": "Punctate acrokeratoderma freckle-like pigmentation", "ORPHA:99750": "Atypical progressive supranuclear palsy syndrome", "ORPHA:99749": "Kostmann syndrome", "ORPHA:99748": "Pontiac fever", "ORPHA:99757": "Embryonal rhabdomyosarcoma", "ORPHA:99756": "Alveolar rhabdomyosarcoma", "ORPHA:99734": "Myotonia fluctuans", "ORPHA:99731": "Isolated sulfite oxidase deficiency", "ORPHA:99732": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency", "ORPHA:99735": "Myotonia permanens", "ORPHA:99736": "Acetazolamide-responsive myotonia", "ORPHA:99741": "King-Denborough syndrome", "ORPHA:99742": "Amish lethal microcephaly", "ORPHA:99739": "Rare familial disorder with hypertrophic cardiomyopathy", "ORPHA:99745": "Typhoid", "ORPHA:98820": "Familial focal epilepsy with variable foci", "ORPHA:98819": "Familial temporal lobe epilepsy", "ORPHA:98818": "Landau-Kleffner syndrome", "ORPHA:98816": "Childhood occipital visual epilepsy", "ORPHA:98815": "Self-limited epilepsy with autonomic seizures", "ORPHA:98813": "Hypohidrotic ectodermal dysplasia with immunodeficiency", "ORPHA:98812": "Paroxysmal hypnogenic dyskinesia", "ORPHA:98811": "Paroxysmal exertion-induced dyskinesia", "ORPHA:98810": "Paroxysmal non-kinesigenic dyskinesia", "ORPHA:98809": "Paroxysmal kinesigenic dyskinesia", "ORPHA:98808": "Autosomal dominant dopa-responsive dystonia", "ORPHA:98807": "Primary dystonia, DYT13 type", "ORPHA:98837": "Acute biphenotypic leukemia", "ORPHA:98838": "Primary mediastinal large B-cell lymphoma", "ORPHA:98835": "Acute undifferentiated leukemia", "ORPHA:98836": "Bilineal acute leukemia", "ORPHA:98833": "Acute myeloblastic leukemia without maturation", "ORPHA:98834": "Acute myeloblastic leukemia with maturation", "ORPHA:98831": "Acute myeloid leukemia with 11q23 abnormalities", "ORPHA:98832": "Acute myeloid leukemia with minimal differentiation", "ORPHA:98829": "Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)", "ORPHA:98827": "Unclassified myelodysplastic syndrome", "ORPHA:98825": "Unclassified myelodysplastic/myeloproliferative disease", "ORPHA:98826": "Myelodysplastic neoplasm with low blasts", "ORPHA:98823": "Chronic myelomonocytic leukemia", "ORPHA:98824": "Atypical chronic myeloid leukemia", "ORPHA:98852": "Desquamative interstitial pneumonia", "ORPHA:98851": "Mast cell leukemia", "ORPHA:98853": "Autosomal dominant Emery-Dreifuss muscular dystrophy", "ORPHA:98848": "Indolent systemic mastocytosis", "ORPHA:98850": "Aggressive systemic mastocytosis", "ORPHA:98849": "Systemic mastocytosis with associated hematologic neoplasm", "ORPHA:98844": "Classic Hodgkin lymphoma, mixed cellularity type", "ORPHA:98843": "Classic Hodgkin lymphoma, nodular sclerosis type", "ORPHA:98846": "Classic Hodgkin lymphoma, lymphocyte-depleted type", "ORPHA:98845": "Classic Hodgkin lymphoma, lymphocyte-rich type", "ORPHA:98839": "Intravascular large B-cell lymphoma", "ORPHA:98842": "Lymphomatoid papulosis", "ORPHA:98841": "Anaplastic large cell lymphoma", "ORPHA:589608": "Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies", "ORPHA:98867": "Hereditary pyropoikilocytosis", "ORPHA:589595": "Mixed phenotype acute leukemia with t(v;11q23.3)", "ORPHA:98868": "Southeast Asian ovalocytosis", "ORPHA:98869": "Congenital dyserythropoietic anemia type I", "ORPHA:589618": "Dystonia 28", "ORPHA:98870": "Congenital dyserythropoietic anemia type III", "ORPHA:589534": "Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)", "ORPHA:98863": "X-linked Emery-Dreifuss muscular dystrophy", "ORPHA:589527": "Spinocerebellar ataxia type 45", "ORPHA:98864": "Common hereditary elliptocytosis", "ORPHA:589547": "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder", "ORPHA:98865": "Homozygous hereditary elliptocytosis", "ORPHA:589542": "Myeloid/lymphoid neoplasm associated with JAK2 rearrangement", "ORPHA:98866": "OBSOLETE: Spherocytic elliptocytosis", "ORPHA:589442": "Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome", "ORPHA:589435": "Spondylometaphyseal dysplasia-corneal dystrophy syndrome", "ORPHA:589522": "Spinocerebellar ataxia type 46", "ORPHA:98861": "Primary ciliary dyskinesia, Kartagener type", "ORPHA:589515": "PUM1-associated developmental disability-ataxia-seizure syndrome", "ORPHA:98855": "Autosomal recessive Emery-Dreifuss muscular dystrophy", "ORPHA:98856": "Charcot-Marie-Tooth disease type 2B1", "ORPHA:98881": "Familial dysfibrinogenemia", "ORPHA:98880": "Familial afibrinogenemia", "ORPHA:98879": "Hemophilia B", "ORPHA:98886": "Bleeding diathesis due to integrin alpha2-beta1 deficiency", "ORPHA:98885": "Bleeding diathesis due to glycoprotein VI deficiency", "ORPHA:98873": "Congenital dyserythropoietic anemia type II", "ORPHA:98872": "Primary acquired pure red cell aplasia", "ORPHA:98871": "Transient erythroblastopenia of childhood", "ORPHA:98878": "Hemophilia A", "ORPHA:98897": "Oculopharyngodistal myopathy", "ORPHA:98895": "Becker muscular dystrophy", "ORPHA:98896": "Duchenne muscular dystrophy", "ORPHA:98902": "Amish nemaline myopathy", "ORPHA:98889": "Bilateral perisylvian polymicrogyria", "ORPHA:98890": "Early-onset X-linked optic atrophy", "ORPHA:98888": "X-linked complex spastic paraplegia", "ORPHA:98893": "Congenital muscular dystrophy type 1B", "ORPHA:98894": "Congenital muscular dystrophy type 1D", "ORPHA:98892": "Periventricular nodular heterotopia", "ORPHA:98912": "Late-onset distal myopathy, Markesbery-Griggs type", "ORPHA:98911": "Distal myotilinopathy", "ORPHA:98914": "Presynaptic congenital myasthenic syndromes", "ORPHA:98913": "Postsynaptic congenital myasthenic syndromes", "ORPHA:98916": "Acute inflammatory demyelinating polyradiculoneuropathy", "ORPHA:98915": "Synaptic congenital myasthenic syndromes", "ORPHA:98918": "Acute motor axonal neuropathy", "ORPHA:98917": "Acute motor and sensory axonal neuropathy", "ORPHA:98904": "Congenital myopathy with excess of thin filaments", "ORPHA:98905": "Congenital multicore myopathy with external ophthalmoplegia", "ORPHA:98908": "Neutral lipid storage disease with myopathy", "ORPHA:98907": "Neutral lipid storage disease with ichthyosis", "ORPHA:98910": "Alpha-crystallinopathy", "ORPHA:98909": "Desminopathy", "ORPHA:98932": "OBSOLETE: Shy-Drager syndrome", "ORPHA:98933": "Multiple system atrophy, parkinsonian type", "ORPHA:98934": "Huntington disease-like 2", "ORPHA:98919": "Miller Fisher syndrome", "ORPHA:98920": "Spinal muscular atrophy with respiratory distress type 1", "ORPHA:98922": "Blake pouch cyst", "ORPHA:98941": "OBSOLETE: Von Hippel anomaly", "ORPHA:98942": "Coloboma of choroid and retina", "ORPHA:98938": "Colobomatous microphthalmia", "ORPHA:98949": "Complete cryptophthalmia", "ORPHA:98950": "Partial cryptophthalmia", "ORPHA:98947": "Coloboma of optic disc", "ORPHA:98948": "Congenital symblepharon", "ORPHA:98945": "Coloboma of macula", "ORPHA:98946": "Coloboma of eyelid", "ORPHA:98943": "Coloboma of eye lens", "ORPHA:98944": "Coloboma of iris", "ORPHA:98958": "Climatic droplet keratopathy", "ORPHA:98957": "Gelatinous drop-like corneal dystrophy", "ORPHA:98956": "Epithelial basement membrane dystrophy", "ORPHA:98955": "Lisch epithelial corneal dystrophy", "ORPHA:98954": "Meesmann corneal dystrophy", "ORPHA:98951": "Inverse Marcus-Gunn phenomenon", "ORPHA:98964": "Lattice corneal dystrophy type I", "ORPHA:98963": "Granular corneal dystrophy type II", "ORPHA:98962": "Granular corneal dystrophy type I", "ORPHA:98961": "Reis-Bücklers corneal dystrophy", "ORPHA:98960": "Thiel-Behnke corneal dystrophy", "ORPHA:98959": "Subepithelial mucinous corneal dystrophy", "ORPHA:98971": "Posterior amorphous corneal dystrophy", "ORPHA:98972": "Central cloudy dystrophy of François", "ORPHA:98973": "Posterior polymorphous corneal dystrophy", "ORPHA:98974": "Fuchs endothelial corneal dystrophy", "ORPHA:98967": "Schnyder corneal dystrophy", "ORPHA:98968": "Central discoid corneal dystrophy", "ORPHA:98969": "Macular corneal dystrophy", "ORPHA:98970": "Fleck corneal dystrophy", "ORPHA:98979": "Chandler syndrome", "ORPHA:98980": "Cogan-Reese syndrome", "ORPHA:98981": "Essential iris atrophy", "ORPHA:98975": "Congenital hereditary endothelial dystrophy type I", "ORPHA:98976": "Congenital glaucoma", "ORPHA:98977": "Juvenile glaucoma", "ORPHA:98978": "Axenfeld anomaly", "ORPHA:98988": "Early-onset anterior polar cataract", "ORPHA:98987": "OBSOLETE: Cataract, Hutterite type", "ORPHA:98990": "Coralliform cataract", "ORPHA:98989": "Cerulean cataract", "ORPHA:98984": "Pulverulent cataract", "ORPHA:98983": "OBSOLETE: Congenital cataract, Volkmann type", "ORPHA:98986": "OBSOLETE: Coppock-like cataract", "ORPHA:98985": "Early-onset sutural cataract", "ORPHA:98995": "Early-onset zonular cataract", "ORPHA:98992": "Early-onset partial cataract", "ORPHA:98991": "Early-onset nuclear cataract", "ORPHA:98994": "Total early-onset cataract", "ORPHA:98993": "Early-onset posterior polar cataract", "ORPHA:99001": "Butterfly-shaped pigment dystrophy", "ORPHA:99002": "Reticular dystrophy of the retinal pigment epithelium", "ORPHA:99000": "Adult-onset foveomacular vitelliform dystrophy", "ORPHA:99003": "Multifocal pattern dystrophy simulating fundus flavimaculatus", "ORPHA:99004": "Fundus pulverulentus", "ORPHA:99013": "Spastic paraplegia type 7", "ORPHA:99014": "X-linked Charcot-Marie-Tooth disease type 5", "ORPHA:99012": "OBSOLETE: Autosomal recessive optic atrophy, OPA6 type", "ORPHA:99015": "Spastic paraplegia type 2", "ORPHA:99022": "OBSOLETE: Niemann-Pick disease type E", "ORPHA:585867": "Acute myeloid leukemia with t(9;22)(q34.1;q11.2)", "ORPHA:585877": "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality", "ORPHA:585909": "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)", "ORPHA:585936": "B-lymphoblastic leukemia/lymphoma with hyperdiploidy", "ORPHA:585942": "B-lymphoblastic leukemia/lymphoma with hypodiploidy", "ORPHA:585918": "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)", "ORPHA:585929": "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)", "ORPHA:99027": "Adult-onset autosomal dominant leukodystrophy", "ORPHA:585956": "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)", "ORPHA:585948": "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)", "ORPHA:586130": "Sporadic fatal insomnia", "ORPHA:99042": "Congenitally uncorrected transposition of the great arteries with coarctation", "ORPHA:99043": "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis", "ORPHA:99044": "Double outlet right ventricle with subaortic ventricular septal defect", "ORPHA:99045": "Double outlet right ventricle with subpulmonary ventricular septal defect", "ORPHA:99046": "Double outlet right ventricle with non-committed subpulmonary ventricular septal defect", "ORPHA:99048": "Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome", "ORPHA:99047": "Double outlet right ventricle with doubly committed ventricular septal defect", "ORPHA:99050": "Abnormal origin of right or left pulmonary artery from the aorta", "ORPHA:99049": "Pulmonary artery coming from patent ductus arteriosus", "ORPHA:99052": "Discrete fibromuscular subaortic stenosis", "ORPHA:99051": "Discrete fixed membranous subaortic stenosis", "ORPHA:99054": "Valvular pulmonary stenosis", "ORPHA:99053": "Tunnel subaortic stenosis", "ORPHA:99056": "Parachute tricuspid valve", "ORPHA:99055": "Congenital anomaly of the tricuspid valve chordae", "ORPHA:99058": "Hypoplasia of the mitral valve annulus", "ORPHA:99057": "Congenital mitral stenosis", "ORPHA:99060": "Congenital unguarded mitral orifice", "ORPHA:99059": "Congenital supravalvular mitral ring", "ORPHA:99062": "Mitral valve agenesis", "ORPHA:99061": "Accessory mitral valve tissue", "ORPHA:98609": "EEC syndrome and related disorders", "ORPHA:98610": "Rare disorder with conjunctival involvement as a major feature", "ORPHA:98608": "OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system", "ORPHA:98613": "OBSOLETE: Conjunctival telangiectasia", "ORPHA:98614": "OBSOLETE: Conjunctival lymphangiectasia", "ORPHA:98611": "OBSOLETE: Conjunctival vascular anomaly", "ORPHA:98612": "OBSOLETE: Conjunctival hemangioma or hemolymphangioma", "ORPHA:98601": "OBSOLETE: Eyebrow/eyelashes pigmentation anomaly", "ORPHA:98602": "Rare disorder of the lacrimal apparatus", "ORPHA:98599": "OBSOLETE: Eyebrow/eyelashes structural anomaly", "ORPHA:98600": "OBSOLETE: Eyebrow/eyelashes distichiasis", "ORPHA:98605": "Lacrimal drainage system anomaly", "ORPHA:98606": "Syndromic orbital border hypoplasia", "ORPHA:98603": "OBSOLETE: Secretory apparatus of the lacrimal system anomaly", "ORPHA:98604": "Congenital alacrima", "ORPHA:98594": "Rare eyebrow/eyelash disorder", "ORPHA:98593": "OBSOLETE: Neurogenic palpebral tumor", "ORPHA:98592": "OBSOLETE: Palpebral tumor with a vascular malformation", "ORPHA:98591": "OBSOLETE: Mesenchymatous palpebral tumor", "ORPHA:98598": "OBSOLETE: Congenital absence of the eyebrow/eyelashes", "ORPHA:98597": "OBSOLETE: Eyelashes hypertrophy", "ORPHA:98596": "OBSOLETE: Eyebrow hypertrophy", "ORPHA:98595": "OBSOLETE: Eyebrow/eyelashes hypertrichosis", "ORPHA:98586": "OBSOLETE: Pigmented palpebral tumor", "ORPHA:98585": "OBSOLETE: Palpebral sebaceous gland tumor", "ORPHA:98584": "OBSOLETE: Malignant tumor of palpebral epidermis", "ORPHA:98583": "OBSOLETE: Precancerous lesion of palpebral epidermis", "ORPHA:98590": "OBSOLETE: Palpebral piliary tumor", "ORPHA:98589": "OBSOLETE: Palpebral malignant melanoma", "ORPHA:98588": "OBSOLETE: Palpebral nevus", "ORPHA:98587": "OBSOLETE: Palpebral lentiginosis", "ORPHA:98575": "Syndromic telecanthus", "ORPHA:98576": "Syndromic outer canthal malposition", "ORPHA:98577": "OBSOLETE: Kinetic eyelid anomaly", "ORPHA:98578": "Rare disorder with ptosis", "ORPHA:98579": "OBSOLETE: Congenital upper palpebral retraction", "ORPHA:98580": "OBSOLETE: Palpebral tumor", "ORPHA:98581": "OBSOLETE: Palpebral epidermal tumor", "ORPHA:98582": "OBSOLETE: Benign tumor of palpebral epidermis", "ORPHA:98567": "Rare eyelid malposition disorder", "ORPHA:98568": "OBSOLETE: Congenital entropion", "ORPHA:98569": "OBSOLETE: Secondary entropion", "ORPHA:98570": "Congenital ectropion", "ORPHA:98571": "Secondary ectropion", "ORPHA:98572": "OBSOLETE: Canthal anomaly", "ORPHA:98573": "OBSOLETE: Epicanthal fold", "ORPHA:98574": "Syndromic epicanthus", "ORPHA:98560": "Rare palpebral disorder", "ORPHA:98559": "OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease", "ORPHA:98562": "Cryptophthalmia", "ORPHA:98561": "Congenital malformation of the eyelid", "ORPHA:98564": "Eyelid border anomaly", "ORPHA:98563": "Microblepharon-ablephara syndrome", "ORPHA:98566": "Syndromic eyelid coloboma", "ORPHA:98565": "Syndromic ankyloblepharon filiforme adnatum", "ORPHA:98554": "OBSOLETE: Major induction processes eye anomaly", "ORPHA:98553": "Developmental defect of the eye", "ORPHA:98555": "Microphthalmia-anophthalmia-coloboma", "ORPHA:98558": "OBSOLETE: Rare eye disease due to a differentiation anomaly", "ORPHA:98557": "Syndromic aniridia", "ORPHA:98677": "OBSOLETE: Autosomal recessive syndromic optic atrophy", "ORPHA:98678": "OBSOLETE: X-linked recessive optic atrophy", "ORPHA:98675": "OBSOLETE: Autosomal recessive optic atrophy", "ORPHA:98676": "Autosomal recessive isolated optic atrophy", "ORPHA:98673": "Autosomal dominant optic atrophy, classic form", "ORPHA:98671": "Hereditary optic neuropathy", "ORPHA:98672": "Autosomal dominant optic atrophy", "ORPHA:98669": "OBSOLETE: Congenital vitreoretinal dysplasia", "ORPHA:98670": "OBSOLETE: Vitreoretinal degeneration", "ORPHA:98667": "OBSOLETE: Disease predisposing to age-related macular degeneration", "ORPHA:98668": "Vitreoretinopathy", "ORPHA:98665": "OBSOLETE: Colobomatous and areolar dystrophy", "ORPHA:98666": "OBSOLETE: Unclassified primitive or secondary maculopathy", "ORPHA:98664": "OBSOLETE: Genetic macular dystrophy", "ORPHA:98662": "OBSOLETE: Unclassified familial retinal dystrophy", "ORPHA:98661": "Syndromic rod-cone dystrophy", "ORPHA:98658": "Color-vision disease", "ORPHA:98657": "OBSOLETE: Genetic vitreous-retinal disease", "ORPHA:98655": "Lens shape anomaly", "ORPHA:98653": "Lens position anomaly", "ORPHA:98652": "Lens size anomaly", "ORPHA:98650": "Craniofacial anomaly with cataract", "ORPHA:98649": "Dentocutaneous disease with cataract", "ORPHA:98648": "Musculoskeletal disease with cataract", "ORPHA:98647": "OBSOLETE: Cardiac disease with cataract", "ORPHA:98643": "OBSOLETE: Systemic disease with cataract", "ORPHA:98644": "Metabolic disease with cataract", "ORPHA:98645": "OBSOLETE: Cerebral disease with cataract", "ORPHA:98646": "Renal disease with cataract", "ORPHA:98639": "Rare lens disease", "ORPHA:98640": "Rare disorder with lens opacification", "ORPHA:98641": "Syndromic cataract", "ORPHA:98642": "Chromosomal anomaly with cataract", "ORPHA:98635": "Corneodysgenesis", "ORPHA:98636": "OBSOLETE: Corneoiridogoniodysgenesis", "ORPHA:98637": "OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly", "ORPHA:98638": "Rare disease with glaucoma as a major feature", "ORPHA:98631": "Congenital malformation of the eye with glaucoma as a major feature", "ORPHA:98632": "OBSOLETE: Glaucoma associated with neural crest cell migration anomaly", "ORPHA:98633": "OBSOLETE: Goniodysgenesis", "ORPHA:98634": "Anterior segment developmental anomaly without extraocular manifestations", "ORPHA:98628": "Syndromic corneal dystrophy", "ORPHA:98627": "Posterior corneal dystrophy", "ORPHA:98629": "OBSOLETE: Rare glaucoma", "ORPHA:98623": "Syndromic keratoconus", "ORPHA:98626": "Stromal corneal dystrophy", "ORPHA:98625": "Superficial corneal dystrophy", "ORPHA:98620": "OBSOLETE: Syndromic myopia", "ORPHA:98619": "Rare isolated myopia", "ORPHA:98622": "Syndromic hyperopia", "ORPHA:98621": "Rare hyperopia and astigmatism", "ORPHA:98616": "OBSOLETE: Conjunctival tumor", "ORPHA:98615": "OBSOLETE: Pigmented conjunctival lesion", "ORPHA:98618": "Rare refraction anomaly", "ORPHA:98617": "OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma", "ORPHA:583602": "Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency", "ORPHA:98730": "OBSOLETE: Atrioventricular discordance", "ORPHA:583607": "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency", "ORPHA:98729": "Congenital pulmonary veins anomaly", "ORPHA:583595": "Serine biosynthesis pathway deficiency, infantile/juvenile form", "ORPHA:98727": "Rare atrial defect and interatrial communication", "ORPHA:98734": "OBSOLETE: Cardioskeletal syndrome", "ORPHA:98733": "Noonan syndrome and Noonan-related syndrome", "ORPHA:583612": "Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency", "ORPHA:98732": "OBSOLETE: Syndrome associated with a congenital cardiopathy", "ORPHA:98731": "Congenital arteriovenous fistula", "ORPHA:583856": "Isolated splenic vein thrombosis", "ORPHA:98738": "Neurological muscular channelopathy due to a genetic sodium channel defect", "ORPHA:583861": "Isolated mesenteric vein thrombosis", "ORPHA:98737": "Genetic neurological muscular channelopathy", "ORPHA:98736": "OBSOLETE: Genetic neurological channelopathy", "ORPHA:98742": "Neurological muscular channelopathy due to a genetic ryanodine receptor defect", "ORPHA:98741": "Neurological muscular channelopathy due to a genetic potassium channel defect", "ORPHA:98740": "Neurological muscular channelopathy due to a genetic calcium channel defect", "ORPHA:98739": "Neurological muscular channelopathy due to a genetic chloride channel defect", "ORPHA:98713": "OBSOLETE: Metabolic disease with pigmentary retinitis", "ORPHA:98714": "OBSOLETE: Metabolic disease with macular cherry-red spot", "ORPHA:98711": "OBSOLETE: Metabolic disease with corneal opacity", "ORPHA:98712": "OBSOLETE: Metabolic disease with cataract", "ORPHA:98717": "Transposition of the great arteries and conotruncal cardiac anomaly", "ORPHA:98718": "Aortic malformation", "ORPHA:98715": "Uveitis", "ORPHA:98716": "Heart position anomaly", "ORPHA:98721": "Congenital tricuspid malformation", "ORPHA:98722": "Atrioventricular septal defect", "ORPHA:98719": "Pulmonary artery or pulmonary branch anomaly", "ORPHA:98720": "Atrioventricular valve anomaly", "ORPHA:98725": "Ascending aorta anomaly", "ORPHA:98726": "OBSOLETE: Pulmonary artery/pulmonary branch anomaly", "ORPHA:98723": "Hypoplastic right heart syndrome", "ORPHA:98724": "Congenital anomaly of the great arteries", "ORPHA:98696": "OBSOLETE: Genodermatosis with ocular features", "ORPHA:98695": "OBSOLETE: Mitochondrial disease with eye involvement", "ORPHA:98698": "OBSOLETE: Ichthyosis associated with ocular features", "ORPHA:98697": "OBSOLETE: Genetic keratinization disorder associated with ocular features", "ORPHA:98700": "OBSOLETE: Pigmentation disorder with eye involvement", "ORPHA:98699": "OBSOLETE: Syndromic ichthyosis associated with ocular features", "ORPHA:98702": "OBSOLETE: Connective tissue disease with eye involvement", "ORPHA:98701": "OBSOLETE: Phakomatosis with eye involvement", "ORPHA:98704": "OBSOLETE: Onycho-patellar syndrome with eye involvement", "ORPHA:98703": "OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features", "ORPHA:98706": "Oculocutaneous or ocular albinism", "ORPHA:98708": "OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism", "ORPHA:98710": "OBSOLETE: Metabolic disease associated with ocular features", "ORPHA:98709": "OBSOLETE: Ectodermal malformation syndrome associated with ocular features", "ORPHA:98681": "Rare disorder with strabismus", "ORPHA:98682": "NON RARE IN EUROPE: Essential strabismus", "ORPHA:98683": "Syndromic disorder with strabismus", "ORPHA:98684": "Craniostenosis with strabismus", "ORPHA:98685": "Rare oculomotor nerve disorder", "ORPHA:98686": "Congenital trochlear nerve palsy", "ORPHA:98687": "Supranuclear eye movement disorder", "ORPHA:98688": "Oculomotor apraxia", "ORPHA:98689": "OBSOLETE: Myopathy with eye involvement", "ORPHA:98690": "OBSOLETE: Myasthenic syndrome with eye involvement", "ORPHA:98691": "OBSOLETE: Abnormal eye movements", "ORPHA:583097": "Congenital infiltrating lipomatosis of the face", "ORPHA:98692": "OBSOLETE: Nervous system anomaly with eye involvement", "ORPHA:98693": "OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly", "ORPHA:98694": "OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly", "ORPHA:98798": "Isochromosomy Yq syndrome", "ORPHA:98797": "Isochromosomy Yp syndrome", "ORPHA:98795": "Angelman syndrome due to paternal uniparental disomy of chromosome 15", "ORPHA:98794": "Angelman syndrome due to maternal 15q11q13 deletion", "ORPHA:98793": "Prader-Willi syndrome due to paternal 15q11q13 deletion", "ORPHA:98791": "Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16", "ORPHA:98806": "Primary dystonia, DYT6 type", "ORPHA:98805": "Primary dystonia, DYT4 type", "ORPHA:98788": "Pitt-Rogers-Danks syndrome", "ORPHA:98784": "Autosomal dominant nocturnal frontal lobe epilepsy", "ORPHA:98764": "Spinocerebellar ataxia type 27A", "ORPHA:98763": "Spinocerebellar ataxia type 14", "ORPHA:98766": "Spinocerebellar ataxia type 5", "ORPHA:98765": "Spinocerebellar ataxia type 4", "ORPHA:98760": "Spinocerebellar ataxia type 8", "ORPHA:98759": "Spinocerebellar ataxia type 17", "ORPHA:98762": "Spinocerebellar ataxia type 12", "ORPHA:98761": "Spinocerebellar ataxia type 10", "ORPHA:98772": "Spinocerebellar ataxia type 19/22", "ORPHA:98771": "Spinocerebellar ataxia type 18", "ORPHA:98773": "Spinocerebellar ataxia type 21", "ORPHA:98768": "Spinocerebellar ataxia type 13", "ORPHA:98767": "Spinocerebellar ataxia type 11", "ORPHA:98770": "Spinocerebellar ataxia type 16", "ORPHA:98769": "Spinocerebellar ataxia type 15/16", "ORPHA:98747": "Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect", "ORPHA:580940": "QRICH1-related intellectual disability-chondrodysplasia syndrome", "ORPHA:98748": "Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect", "ORPHA:98749": "Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect", "ORPHA:580951": "Punctate inner choroidopathy", "ORPHA:98750": "Autoimmune neurological channelopathy", "ORPHA:98743": "Genetic neurological channelopathy of the central nervous system", "ORPHA:98744": "Neurological channelopathy of the central nervous system due to a genetic sodium channel defect", "ORPHA:580933": "Lethal brain and heart developmental defects", "ORPHA:98745": "Neurological channelopathy of the central nervous system due to a genetic calcium channel defect", "ORPHA:98746": "Neurological channelopathy of the central nervous system due to a genetic potassium channel defect", "ORPHA:98755": "Spinocerebellar ataxia type 1", "ORPHA:98756": "Spinocerebellar ataxia type 2", "ORPHA:98757": "Spinocerebellar ataxia type 3", "ORPHA:98758": "Spinocerebellar ataxia type 6", "ORPHA:98751": "OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect", "ORPHA:581271": "Cramp-fasciculation syndrome", "ORPHA:98752": "OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect", "ORPHA:98753": "OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect", "ORPHA:98754": "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15", "ORPHA:98336": "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection", "ORPHA:98335": "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect", "ORPHA:98338": "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug", "ORPHA:98337": "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation", "ORPHA:98340": "OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity", "ORPHA:98339": "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin", "ORPHA:98342": "OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury", "ORPHA:98341": "OBSOLETE: Male infertility with normal virilization due to a systemic disease", "ORPHA:98328": "OBSOLETE: Male infertility with normal virilization", "ORPHA:98327": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease", "ORPHA:98330": "OBSOLETE: Male infertility with normal virilization due to androgen administration", "ORPHA:98329": "OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect", "ORPHA:98332": "OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect", "ORPHA:98331": "OBSOLETE: Male infertility with normal virilization due to a testicular defect", "ORPHA:98334": "OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele", "ORPHA:98333": "OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism", "ORPHA:98352": "Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature", "ORPHA:98353": "Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature", "ORPHA:98356": "Autosomal recessive isolated diffuse palmoplantar keratoderma", "ORPHA:98357": "Autosomal recessive disease with focal palmoplantar keratoderma as a major feature", "ORPHA:98343": "Male infertility due to obstructive azoospermia", "ORPHA:98345": "OBSOLETE: Rare idiopathic male infertility", "ORPHA:580572": "Intraductal tubulopapillary neoplasm of pancreas", "ORPHA:98349": "Autosomal dominant isolated diffuse palmoplantar keratoderma", "ORPHA:98306": "Familial partial lipodystrophy", "ORPHA:98305": "Genetic lipodystrophy", "ORPHA:98310": "OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder", "ORPHA:98309": "OBSOLETE: Male infertility with impaired virilization", "ORPHA:98307": "Acquired lipodystrophy", "ORPHA:98298": "OBSOLETE: Ichthyosis associated with a peroxisomal disease", "ORPHA:98297": "OBSOLETE: Ichthyosis associated with a protein catabolism anomaly", "ORPHA:98296": "OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly", "ORPHA:98301": "Laminopathy", "ORPHA:98300": "Idiopathic interstitial pneumonia", "ORPHA:98299": "OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly", "ORPHA:98321": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease", "ORPHA:98322": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure", "ORPHA:98319": "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity", "ORPHA:98320": "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease", "ORPHA:98325": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis", "ORPHA:98326": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder", "ORPHA:98323": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease", "ORPHA:98324": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness", "ORPHA:98313": "Male infertility due to gonadal dysgenesis", "ORPHA:98314": "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect", "ORPHA:98311": "OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia", "ORPHA:98312": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder", "ORPHA:98317": "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related", "ORPHA:98318": "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin", "ORPHA:98315": "OBSOLETE: Male infertility with impaired virilization due to a viral orchitis", "ORPHA:98316": "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma", "ORPHA:576232": "Partial atrioventricular septal defect with ventricular hypoplasia", "ORPHA:576235": "Partial atrioventricular septal defect without ventricular hypoplasia", "ORPHA:576227": "Complete atrioventricular septal defect without ventricular hypoplasia", "ORPHA:98396": "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder", "ORPHA:576074": "Middle East respiratory syndrome", "ORPHA:575553": "Cathepsin A-related arteriopathy-strokes-leukoencephalopathy", "ORPHA:98421": "Primary acquired red cell aplasia", "ORPHA:576742": "Genetic hemolytic uremic syndrome", "ORPHA:98415": "Vitamin B12- and folate-independent constitutional megaloblastic anemia", "ORPHA:576379": "Iatrogenic Creutzfeldt-Jakob disease", "ORPHA:576356": "Sporadic human prion disease", "ORPHA:576349": "NLRC4-related familial cold autoinflammatory syndrome", "ORPHA:576370": "Variant Creutzfeldt-Jakob disease", "ORPHA:576360": "Acquired human prion disease", "ORPHA:576242": "Intermediate atrioventricular septal defect", "ORPHA:98408": "Constitutional megaloblastic anemia due to folate metabolism disorder", "ORPHA:576283": "SATB2-associated syndrome due to a pathogenic variant", "ORPHA:576278": "SATB2-associated syndrome", "ORPHA:573163": "Pheochromocytoma-paraganglioma", "ORPHA:98374": "Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder", "ORPHA:573253": "Split cord malformation type II", "ORPHA:98372": "Hemolytic anemia due to a disorder of glycolytic enzymes", "ORPHA:98370": "Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies", "ORPHA:98369": "Rare constitutional hemolytic anemia due to an enzyme disorder", "ORPHA:98366": "Constitutional hemolytic anemia due to acanthocytosis", "ORPHA:98365": "Hereditary stomatocytosis", "ORPHA:98364": "Rare constitutional hemolytic anemia due to a red cell membrane anomaly", "ORPHA:98363": "Rare hemolytic anemia", "ORPHA:98362": "Constitutional sideroblastic anemia", "ORPHA:98360": "Constitutional anemia due to iron metabolism disorder", "ORPHA:574957": "Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency", "ORPHA:574918": "Predisposition to severe viral infection due to IRF7 deficiency", "ORPHA:98375": "Autoimmune hemolytic anemia", "ORPHA:573278": "Split cord malformation", "ORPHA:98455": "Alpha granule disease", "ORPHA:98456": "Dense granule disease", "ORPHA:98464": "OBSOLETE: X-linked syndromic intellectual disability", "ORPHA:98468": "OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly", "ORPHA:98469": "OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly", "ORPHA:98470": "OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly", "ORPHA:98472": "Skeletal muscle disease", "ORPHA:98473": "Muscular dystrophy", "ORPHA:98482": "Idiopathic inflammatory myopathy", "ORPHA:98486": "Metabolic myopathy", "ORPHA:572385": "Brachydactyly type B1", "ORPHA:572361": "Blepharophimosis-ptosis-epicanthus inversus syndrome type 2", "ORPHA:98429": "Rare coagulation disorder", "ORPHA:98427": "Polycythemia", "ORPHA:98428": "Secondary polycythemia", "ORPHA:572428": "Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia", "ORPHA:98434": "Hereditary combined deficiency of vitamin K-dependent clotting factors", "ORPHA:98435": "OBSOLETE: Protease inhibitor anomaly", "ORPHA:572543": "RFVT2-related riboflavin transporter deficiency", "ORPHA:572550": "RFVT3-related riboflavin transporter deficiency", "ORPHA:572773": "Microcephaly-short stature-limb abnormalities syndrome", "ORPHA:98454": "OBSOLETE: Platelet storage pool disease", "ORPHA:572798": "WARS2-related combined oxidative phosphorylation defect", "ORPHA:572761": "DONSON-related microcephaly-short stature-limb abnormalities spectrum", "ORPHA:572768": "Microcephaly-micromelia syndrome", "ORPHA:98523": "Non-syndromic pontocerebellar hypoplasia", "ORPHA:98519": "Posterior fossa malformation", "ORPHA:98520": "OBSOLETE: Cystic malformation of the posterior fossa", "ORPHA:98531": "OBSOLETE: Tauopathy with a major tau doublet at 60 and 64 kDa", "ORPHA:98532": "OBSOLETE: Tauopathy with a major tau at 60 kDa", "ORPHA:98534": "Neurodegenerative disease with dementia", "ORPHA:98527": "OBSOLETE: Tauopathy", "ORPHA:98528": "OBSOLETE: Tauopathy with non-Alzheimer non-Pick frontal lobe degeneration", "ORPHA:98529": "OBSOLETE: Tauopathy with a major tau triplet at 60, 64 and 69 kDa", "ORPHA:98530": "OBSOLETE: Tauopathy with a major tau doublet at 64 and 69 kDa", "ORPHA:98540": "Late-onset ataxia with dementia", "ORPHA:98539": "Early-onset ataxia with dementia", "ORPHA:572013": "Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome", "ORPHA:98542": "Infectious disease with dementia", "ORPHA:98535": "Frontotemporal degeneration with dementia", "ORPHA:98538": "Ataxia with dementia", "ORPHA:572333": "Blepharophimosis-ptosis-epicanthus inversus syndrome plus", "ORPHA:572354": "Blepharophimosis-ptosis-epicanthus inversus syndrome type 1", "ORPHA:98549": "Rare cerebrovascular dementia", "ORPHA:98544": "Cerebral lipidosis with dementia", "ORPHA:98543": "Metabolic disease with dementia", "ORPHA:570762": "Infective endocarditis", "ORPHA:98494": "Acquired neuromuscular junction disease", "ORPHA:570491": "QRSL1-related combined oxidative phosphorylation defect", "ORPHA:98491": "Neuromuscular junction disease", "ORPHA:570470": "Ricin poisoning", "ORPHA:570438": "HHV-8-associated multicentric Castleman disease", "ORPHA:570431": "Idiopathic multicentric Castleman disease", "ORPHA:570422": "Galactose mutarotase deficiency", "ORPHA:570371": "Bartter syndrome type 5", "ORPHA:98497": "Genetic peripheral neuropathy", "ORPHA:98495": "Genetic neuromuscular junction disease", "ORPHA:98496": "Rare peripheral neuropathy", "ORPHA:98506": "Acquired motor neuron disease", "ORPHA:98505": "Genetic motor neuron disease", "ORPHA:98503": "Motor neuron disease", "ORPHA:98518": "Cranial nerve and nuclear aplasia", "ORPHA:98516": "Malformation of the cerebellar hemispheres", "ORPHA:98514": "Malformation of the cerebellar vermis", "ORPHA:117573": "Syndromic anorectal malformation", "ORPHA:104077": "Myopathic intestinal pseudoobstruction", "ORPHA:104076": "Leiomyosarcoma of small intestine", "ORPHA:104075": "Adenocarcinoma of the small intestine", "ORPHA:104013": "Metabolic disease with intestinal involvement", "ORPHA:104012": "Rare inflammatory bowel disease", "ORPHA:104011": "Rare tumor of intestine", "ORPHA:104010": "Intestinal polyposis syndrome", "ORPHA:104009": "Rare disease involving intestinal motility", "ORPHA:104008": "Short bowel syndrome", "ORPHA:104007": "Congenital enteropathy involving intestinal mucosa development", "ORPHA:104006": "Congenital intestinal disease due to an enzymatic defect", "ORPHA:104005": "Intestinal disease due to fat malabsorption", "ORPHA:104004": "Intestinal disease due to vitamin absorption anomaly", "ORPHA:104003": "Congenital intestinal transport defect", "ORPHA:103920": "Undetermined colitis", "ORPHA:103919": "Autoimmune pancreatitis", "ORPHA:103917": "OBSOLETE: Autoimmune enteropathy type 3", "ORPHA:103918": "Tropical pancreatitis", "ORPHA:103915": "OBSOLETE: Immunoproliferative small intestinal disease", "ORPHA:103916": "OBSOLETE: Autoimmune enteropathy type 2", "ORPHA:103910": "Congenital enterocyte heparan sulfate deficiency", "ORPHA:103912": "OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome", "ORPHA:103908": "Congenital sodium diarrhea", "ORPHA:103909": "Trehalase deficiency", "ORPHA:103907": "Chronic diarrhea due to glucoamylase deficiency", "ORPHA:102724": "Acute myeloid leukemia with t(8;21)(q22;q22) translocation", "ORPHA:102379": "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent", "ORPHA:102381": "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor", "ORPHA:109011": "Non-syndromic limb malformation", "ORPHA:109009": "Syndrome with limb malformations as a major feature", "ORPHA:117569": "Rare intestinal disease", "ORPHA:109007": "Arthrogryposis syndrome", "ORPHA:108995": "Syndromic respiratory or mediastinal malformation", "ORPHA:108993": "Non-syndromic respiratory or mediastinal malformation", "ORPHA:108999": "Rare disorder due to toxic effects", "ORPHA:108997": "Rare anemia", "ORPHA:108987": "OBSOLETE: Syndromic developmental defect of the eye", "ORPHA:108985": "OBSOLETE: Non-syndromic developmental defect of the eye", "ORPHA:108991": "Syndrome with a central nervous system malformation as a major feature", "ORPHA:108989": "Non-syndromic central nervous system malformation", "ORPHA:108977": "Non-syndromic diaphragmatic or abdominal wall malformation", "ORPHA:108979": "Syndromic diaphragmatic or abdominal wall malformation", "ORPHA:108969": "Syndromic intestinal malformation", "ORPHA:108971": "Non-syndromic visceral malformation", "ORPHA:108973": "Syndromic visceral malformation", "ORPHA:108961": "Syndromic esophageal malformation", "ORPHA:108963": "Non-syndromic gastroduodenal malformation", "ORPHA:108965": "Syndromic gastroduodenal malformation", "ORPHA:108967": "Non-syndromic intestinal malformation", "ORPHA:104078": "Unclassified intestinal pseudoobstruction", "ORPHA:108959": "Non-syndromic esophageal malformation", "ORPHA:101995": "Periodic fever syndrome", "ORPHA:101992": "Immunodeficiency due to a complement cascade protein anomaly", "ORPHA:101998": "Rare epilepsy", "ORPHA:101997": "Primary immunodeficiency", "ORPHA:102002": "Rare ataxia", "ORPHA:102003": "Rare movement disorder", "ORPHA:102000": "Medullar disease", "ORPHA:102006": "Neurovascular malformation", "ORPHA:102005": "Brain inflammatory disease", "ORPHA:101978": "OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells", "ORPHA:101977": "Immunodeficiency predominantly affecting antibody production", "ORPHA:101982": "OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells", "ORPHA:101980": "OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells", "ORPHA:101987": "Congenital neutropenia", "ORPHA:101985": "Quantitative and/or qualitative congenital phagocyte defect", "ORPHA:101988": "Primary immunodeficiency due to a defect in innate immunity", "ORPHA:102024": "Human herpesvirus 8-related disorder", "ORPHA:102025": "OBSOLETE: Nuclear cell envelopathy", "ORPHA:102069": "OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis", "ORPHA:102237": "Unexplained periodic fever syndrome", "ORPHA:102283": "Multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "ORPHA:102284": "OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome", "ORPHA:102285": "Multiple congenital anomalies/dysmorphic syndrome without intellectual disability", "ORPHA:102369": "Rare syndromic intellectual disability", "ORPHA:102373": "OBSOLETE: Primary glomerular disease", "ORPHA:102009": "Classic lissencephaly", "ORPHA:102011": "Lissencephaly type 3", "ORPHA:102010": "Other syndrome with lissencephaly as a major feature", "ORPHA:102013": "Complex hereditary spastic paraplegia", "ORPHA:102012": "Pure hereditary spastic paraplegia", "ORPHA:102015": "Autosomal recessive limb-girdle muscular dystrophy", "ORPHA:102014": "Autosomal dominant limb-girdle muscular dystrophy", "ORPHA:102021": "Rickettsial disease", "ORPHA:102020": "Autosomal monosomy syndrome", "ORPHA:102023": "Typhus-group rickettsiosis", "ORPHA:102022": "Spotted fever rickettsiosis", "ORPHA:101934": "Genetic cardiac rhythm disease", "ORPHA:101932": "Anomaly of the mitral subvalvular apparatus", "ORPHA:101685": "Rare non-syndromic intellectual disability", "ORPHA:101943": "Rare hepatic and biliary tract tumor", "ORPHA:101940": "Rare metabolic liver disease", "ORPHA:101941": "Rare biliary tract disease", "ORPHA:101938": "Rare vascular liver disease", "ORPHA:101939": "Rare parenchymal liver disease", "ORPHA:101936": "Rare gastroesophageal disease", "ORPHA:101937": "Rare pancreatic disease", "ORPHA:101351": "Familial isolated congenital asplenia", "ORPHA:101338": "OBSOLETE: Mediterranean spotted fever", "ORPHA:101337": "OBSOLETE: Marseilles fever", "ORPHA:101435": "Rare genetic eye disease", "ORPHA:101433": "Rare urogenital disease", "ORPHA:101356": "OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome", "ORPHA:101960": "Genetic chronic primary adrenal insufficiency", "ORPHA:101963": "Acquired chronic primary adrenal insufficiency", "ORPHA:101972": "Combined T and B cell immunodeficiency", "ORPHA:101949": "OBSOLETE: Rare acquired eye disease", "ORPHA:101950": "Rare eye tumor", "ORPHA:101945": "Rare bronchopulmonary and pleural cavity tumors", "ORPHA:101944": "Rare pulmonary disease", "ORPHA:101957": "Pituitary deficiency", "ORPHA:101956": "Polyendocrinopathy", "ORPHA:101959": "Chronic primary adrenal insufficiency", "ORPHA:101958": "Primary adrenal insufficiency", "ORPHA:101953": "Rare dyslipidemia", "ORPHA:101952": "Rare diabetes mellitus", "ORPHA:101955": "Rare thyroid disease", "ORPHA:101954": "Rare adrenal disease", "ORPHA:664511": "Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency", "ORPHA:101150": "Autosomal recessive dopa-responsive dystonia", "ORPHA:664500": "Hermansky-Pudlak syndrome due to AP3B1 deficiency", "ORPHA:101151": "Dystonia 14", "ORPHA:664482": "Primary hemophagocytic lymphohistiocytosis without hypopigmentation", "ORPHA:101111": "Spinocerebellar ataxia type 25", "ORPHA:101112": "Spinocerebellar ataxia type 26", "ORPHA:664456": "Immune dysregulation disease with immunodeficiency associated with EBV susceptibility", "ORPHA:101109": "Spinocerebellar ataxia type 28", "ORPHA:664450": "Inherited cancer-predisposing lymphoproliferative syndrome", "ORPHA:664438": "Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome", "ORPHA:101110": "Spinocerebellar ataxia type 20", "ORPHA:101107": "Spinocerebellar ataxia type 22", "ORPHA:101108": "Spinocerebellar ataxia type 23", "ORPHA:664430": "Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome", "ORPHA:664416": "Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation", "ORPHA:664410": "Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome", "ORPHA:101106": "OBSOLETE: Non-secreting chemodectoma", "ORPHA:665058": "Common arterial trunk with pulmonary dominance and interrupted aortic arch", "ORPHA:101336": "OBSOLETE: Kenya tick typhus", "ORPHA:667589": "Isolated congenital femoral bifurcation", "ORPHA:101335": "OBSOLETE: Indian tick typhus", "ORPHA:665044": "Common arterial trunk with aortic dominance", "ORPHA:101334": "African tick typhus", "ORPHA:664912": "Neonatal renal venous thrombosis", "ORPHA:664923": "Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome", "ORPHA:664787": "Nicolau syndrome", "ORPHA:101330": "Porphyria cutanea tarda", "ORPHA:664901": "Trigeminal trophic syndrome", "ORPHA:664729": "EBV-induced lymphoproliferative disease due to TET2 deficiency", "ORPHA:664734": "EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature", "ORPHA:664726": "EBV-induced lymphoproliferative disease due to CD137 deficiency", "ORPHA:101206": "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome", "ORPHA:664711": "EBV-induced lymphoproliferative disease due to PRKCD deficiency", "ORPHA:664699": "EBV-induced lymphoproliferative disease due to RASGRP1 deficiency", "ORPHA:662473": "Duodenal duplication", "ORPHA:101085": "Charcot-Marie-Tooth disease type 1F", "ORPHA:662456": "Small intestine duplication", "ORPHA:662721": "Placenta accreta spectrum disorder", "ORPHA:662480": "Jejuno-ileal duplication", "ORPHA:101088": "X-linked hyper-IgM syndrome", "ORPHA:662388": "Gallbladder duplication", "ORPHA:101081": "Charcot-Marie-Tooth disease type 1A", "ORPHA:662376": "Gastric duplication", "ORPHA:101082": "Charcot-Marie-Tooth disease type 1B", "ORPHA:662405": "Pyloric duplication", "ORPHA:101083": "Charcot-Marie-Tooth disease type 1C", "ORPHA:662392": "Colonic duplication", "ORPHA:101084": "Charcot-Marie-Tooth disease type 1D", "ORPHA:662240": "Frey syndrome", "ORPHA:101077": "X-linked Charcot-Marie-Tooth disease type 3", "ORPHA:101078": "X-linked Charcot-Marie-Tooth disease type 4", "ORPHA:662234": "Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome", "ORPHA:662367": "NESCAV syndrome", "ORPHA:662255": "Grisel syndrome", "ORPHA:662216": "Mucopolysaccharidosis type 10", "ORPHA:662207": "Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome", "ORPHA:662229": "Episodic memory defect leukoencephalopathy", "ORPHA:101075": "X-linked Charcot-Marie-Tooth disease type 1", "ORPHA:101076": "X-linked Charcot-Marie-Tooth disease type 2", "ORPHA:664377": "MGP-related spondyloepiphyseal dysplasia", "ORPHA:101102": "Charcot-Marie-Tooth disease type 2H", "ORPHA:664401": "Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation", "ORPHA:101101": "Charcot-Marie-Tooth disease type 2B2", "ORPHA:664404": "6q25.1 microdeletion syndrome", "ORPHA:101104": "Marin-Amat syndrome", "ORPHA:101097": "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness", "ORPHA:664372": "Soft and hard cleft palate", "ORPHA:101096": "OBSOLETE: Aregenerative anemia", "ORPHA:662762": "Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome", "ORPHA:101090": "Hyper-IgM syndrome type 3", "ORPHA:662786": "Vasa previa", "ORPHA:101089": "Hyper-IgM syndrome type 2", "ORPHA:662829": "Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome", "ORPHA:101092": "Hyper-IgM syndrome type 5", "ORPHA:662934": "Acute megakaryoblastic leukemia in adult", "ORPHA:101091": "Hyper-IgM syndrome type 4", "ORPHA:675362": "Hobnail hemangioma", "ORPHA:675359": "Anastomosing haemangioma", "ORPHA:101052": "OBSOLETE: Microlissencephaly type B", "ORPHA:675216": "Spinocerebellar ataxia type 27B", "ORPHA:101049": "Familial hypocalciuric hypercalcemia type 2", "ORPHA:101050": "Familial hypocalciuric hypercalcemia type 3", "ORPHA:674968": "Bilateral diffuse uveal melanocytic proliferation disease", "ORPHA:675380": "Isolated segmental infantile hemangioma", "ORPHA:675369": "Microvenular haemangioma", "ORPHA:101043": "Congenital aortic valve dysplasia", "ORPHA:674943": "Isolated angioid streaks", "ORPHA:674935": "Torpedo Maculopathy", "ORPHA:674930": "Perifoveal exudative vascular anomalous complex", "ORPHA:101041": "Familial hypofibrinogenemia", "ORPHA:101042": "OBSOLETE: Taussig-Bing syndrome", "ORPHA:674924": "Isolated retinal racemose hemangioma", "ORPHA:674965": "Choroidal osteoma", "ORPHA:674958": "Stellate multiform amelanotic choroidopathy", "ORPHA:674953": "Multiple evanescent white dot syndrome", "ORPHA:674947": "Diffuse unilateral subacute neuroretinitis", "ORPHA:101046": "Autosomal dominant epilepsy with auditory features", "ORPHA:101068": "Congenital stromal corneal dystrophy", "ORPHA:675767": "Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency", "ORPHA:101071": "Unilateral hemispheric polymicrogyria", "ORPHA:101070": "Bilateral frontoparietal polymicrogyria", "ORPHA:675597": "Acquired elastotic haemangioma", "ORPHA:675396": "Epithelioid hemangioma", "ORPHA:675404": "May-Thurner syndrome", "ORPHA:675628": "TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome", "ORPHA:101063": "Situs inversus totalis", "ORPHA:667678": "Intraoral basal cell carcinoma", "ORPHA:667662": "Breast implant-associated anaplastic large cell lymphoma", "ORPHA:672979": "Craniosynostosis-facial dysmorphism-brachydactyly syndrome", "ORPHA:673466": "Malignant vascular tumor", "ORPHA:672985": "Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome", "ORPHA:101022": "Mediterranean macrothrombocytopenia", "ORPHA:101023": "Cleft hard palate", "ORPHA:673473": "Borderline vascular tumor", "ORPHA:673470": "Benign vascular tumor", "ORPHA:101009": "Autosomal dominant spastic paraplegia type 29", "ORPHA:101010": "Autosomal spastic paraplegia type 30", "ORPHA:101011": "Autosomal dominant spastic paraplegia type 31", "ORPHA:101016": "Romano-Ward syndrome", "ORPHA:673580": "Classic pilocytic astrocytoma", "ORPHA:673585": "Pilocytic astrocytoma with histological features of anaplasia", "ORPHA:101033": "OBSOLETE: Peters anomaly-cataract syndrome", "ORPHA:674499": "Proteoglycan-related bone disorder", "ORPHA:101036": "OBSOLETE: Zlotogura-Martinez syndrome", "ORPHA:674648": "Syndrome with congenital phagocyte functional defect as a major feature", "ORPHA:674653": "Actinomyopathy-associated syndromic thrombocytopenia", "ORPHA:674762": "Early-onset autoinflammatory syndrome due to A20 haploinsufficiency", "ORPHA:674896": "Non-syndromic congenital phagocyte functional defect", "ORPHA:101039": "Female restricted epilepsy with intellectual disability", "ORPHA:673525": "Intravascular papillary endothelial hyperplasia", "ORPHA:673538": "Littoral cell hemangioma of the spleen", "ORPHA:101028": "Transaldolase deficiency", "ORPHA:673543": "Papillary hemangioma", "ORPHA:101030": "Subependymal nodular heterotopia", "ORPHA:101029": "Sub-cortical nodular heterotopia", "ORPHA:673556": "Pseudomyogenic hemangioendothelioma", "ORPHA:673568": "Eccrine angiomatous hamartoma", "ORPHA:673574": "Reactive angioendotheliomatosis", "ORPHA:100984": "Autosomal dominant spastic paraplegia type 3", "ORPHA:685067": "Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome", "ORPHA:685082": "Pediatric acute respiratory distress syndrome", "ORPHA:685017": "Combined immunodeficiency due to TBX1 deficiency", "ORPHA:100982": "Autosomal recessive pure spastic paraplegia", "ORPHA:100981": "Autosomal recessive complex spastic paraplegia", "ORPHA:685004": "Primary pericardial mesothelioma", "ORPHA:100980": "Autosomal dominant pure spastic paraplegia", "ORPHA:685010": "Mesothelioma of the tunica vaginalis", "ORPHA:100979": "Autosomal dominant complex spastic paraplegia", "ORPHA:100978": "Cloverleaf skull-asphyxiating thoracic dysplasia syndrome", "ORPHA:684757": "Malformation of the anal canal and the rectum", "ORPHA:686468": "Post 5-alpha-reductase inhibitors treatment syndrome", "ORPHA:686475": "Post-selective serotonin reuptake inhibitor sexual dysfunction", "ORPHA:100991": "Autosomal dominant spastic paraplegia type 10", "ORPHA:100990": "OBSOLETE: Autosomal dominant spastic paraplegia type 9", "ORPHA:686462": "Non-fibrotic hypersensitivity pneumonitis", "ORPHA:686465": "Fibrotic hypersensitivity pneumonitis", "ORPHA:100989": "Autosomal dominant spastic paraplegia type 8", "ORPHA:100988": "Autosomal dominant spastic paraplegia type 6", "ORPHA:686447": "IFNG-responsive severe mendelian susceptibility to mycobacterial diseases", "ORPHA:100986": "Autosomal recessive spastic paraplegia type 5A", "ORPHA:100985": "Autosomal dominant spastic paraplegia type 4", "ORPHA:687424": "10p15 microdeletion syndrome", "ORPHA:100999": "Autosomal dominant spastic paraplegia type 19", "ORPHA:101000": "Autosomal recessive spastic paraplegia type 20", "ORPHA:686999": "Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome", "ORPHA:100997": "X-linked spastic paraplegia type 16", "ORPHA:686556": "Isolated congenital cholesteatoma of the middle ear", "ORPHA:100998": "Autosomal dominant spastic paraplegia type 17", "ORPHA:100995": "Autosomal recessive spastic paraplegia type 14", "ORPHA:686495": "MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome", "ORPHA:100996": "Autosomal recessive spastic paraplegia type 15", "ORPHA:686488": "RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome", "ORPHA:100993": "Autosomal dominant spastic paraplegia type 12", "ORPHA:686482": "BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome", "ORPHA:100994": "Autosomal dominant spastic paraplegia type 13", "ORPHA:688563": "Combined immunodeficiency with normal Ig and poor specific antibody response", "ORPHA:101007": "Autosomal recessive spastic paraplegia type 27", "ORPHA:688543": "Reticular dysgenesis-like severe combined immunodeficiency", "ORPHA:101008": "Autosomal recessive spastic paraplegia type 28", "ORPHA:688523": "Splenic venous malformation", "ORPHA:101005": "Autosomal recessive spastic paraplegia type 25", "ORPHA:101006": "Autosomal recessive spastic paraplegia type 26", "ORPHA:687741": "Multisystem Langerhans cell histiocytosis", "ORPHA:687738": "Single-system multifocal Langerhans cell histiocytosis", "ORPHA:101003": "Autosomal recessive spastic paraplegia type 23", "ORPHA:687733": "Pulmonary Langerhans cell histiocytosis", "ORPHA:101004": "Autosomal recessive spastic paraplegia type 24", "ORPHA:687730": "Unifocal Langerhans cell histiocytosis", "ORPHA:101001": "Autosomal recessive spastic paraplegia type 21", "ORPHA:687695": "10p13-p14 deletion syndrome", "ORPHA:675822": "Well-differentiated papillary mesothelial tumour of the pleura", "ORPHA:100088": "Rare thyroid carcinoma", "ORPHA:675833": "Localized pleural mesothelioma", "ORPHA:675837": "Diffused pleural mesothelioma", "ORPHA:100091": "Adrenal/paraganglial tumor", "ORPHA:675841": "Pleural mesothelioma in situ", "ORPHA:100090": "Rare parathyroid tumor", "ORPHA:100085": "Primary hepatic neuroendocrine carcinoma", "ORPHA:675775": "Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome", "ORPHA:100084": "Middle ear neuroendocrine tumor", "ORPHA:675782": "Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN", "ORPHA:100087": "Rare thyroid tumor", "ORPHA:675814": "Adenomatoid tumour of the pleura", "ORPHA:100086": "Gallbladder neuroendocrine tumor", "ORPHA:676039": "Combined immunodeficiency due to FOXN1 haploinsufficiency", "ORPHA:100101": "Neuroendocrine tumor with other location", "ORPHA:100100": "Thymic tumor", "ORPHA:676125": "X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency", "ORPHA:675976": "Adenomatoid tumour of the peritoneum", "ORPHA:100093": "Carcinoid syndrome", "ORPHA:676030": "Primary benign peritoneal tumor", "ORPHA:100092": "Gastroenteropancreatic neuroendocrine neoplasm", "ORPHA:676033": "Well-differentiated papillary mesothelial tumour of the peritoneum", "ORPHA:676036": "Peritoneal mesothelioma in situ", "ORPHA:100094": "Multiple polyglandular tumor", "ORPHA:100924": "Porphyria due to ALA dehydratase deficiency", "ORPHA:684216": "Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome", "ORPHA:100932": "OBSOLETE: Nuclear oculomotor paralysis", "ORPHA:100642": "NON RARE IN EUROPE: Gonorrhea", "ORPHA:684305": "NOCGUS syndrome", "ORPHA:100973": "FRAXE intellectual disability", "ORPHA:100974": "FRAXF syndrome", "ORPHA:684290": "Hypertrophic olivary degeneration", "ORPHA:684752": "Isolated anal canal duplication", "ORPHA:684742": "2q13 microdeletion syndrome", "ORPHA:100976": "Bathing suit ichthyosis", "ORPHA:684232": "Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome", "ORPHA:684226": "Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome", "ORPHA:684247": "Isolated growth hormone deficiency type IV", "ORPHA:684240": "Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome", "ORPHA:100054": "F12-related hereditary angioedema with normal C1Inh", "ORPHA:100051": "Hereditary angioedema type 2", "ORPHA:100057": "Renin-angiotensin-aldosterone system-blocker-induced angioedema", "ORPHA:100056": "Acquired angioedema type 1", "ORPHA:100055": "Acquired angioedema type 2", "ORPHA:100069": "Semantic dementia", "ORPHA:100070": "Progressive non-fluent aphasia", "ORPHA:100067": "Waterhouse-Friderichsen syndrome", "ORPHA:100073": "Neurogenic thoracic outlet syndrome", "ORPHA:100075": "Neuroendocrine tumor of stomach", "ORPHA:100071": "Mosaic trisomy 3 syndrome", "ORPHA:100072": "OBSOLETE: True vascular thoracic outlet syndrome", "ORPHA:100078": "Ileal neuroendocrine tumor", "ORPHA:100079": "Neuroendocrine neoplasm of appendix", "ORPHA:100076": "Duodenal neuroendocrine tumor", "ORPHA:100077": "Jejunal neuroendocrine tumor", "ORPHA:100082": "Neuroendocrine tumor of anal canal", "ORPHA:100083": "Laryngeal neuroendocrine tumor", "ORPHA:100080": "Neuroendocrine tumor of the colon", "ORPHA:100081": "Neuroendocrine tumor of the rectum", "ORPHA:688571": "Combined immunodeficiency with low immunoglobulins", "ORPHA:100020": "Myelodysplastic neoplasm with increased blasts type 2", "ORPHA:100019": "Myelodysplastic neoplasm with increased blasts type 1", "ORPHA:688581": "Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome", "ORPHA:688594": "Combined immunodeficiency due to RELB deficiency", "ORPHA:100022": "Extramedullary soft tissue plasmacytoma", "ORPHA:688642": "Turnpenny-Fry syndrome", "ORPHA:100021": "Primary plasmacytoma of the bone", "ORPHA:100024": "Mu-heavy chain disease", "ORPHA:688649": "Isolated adrenal medullary hyperplasia", "ORPHA:100026": "Gamma-heavy chain disease", "ORPHA:100025": "Alpha-heavy chain disease", "ORPHA:688995": "Scarlet fever", "ORPHA:689001": "Isolated spontaneous vertebral artery dissection", "ORPHA:689021": "Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome", "ORPHA:100032": "Hypocalcified amelogenesis imperfecta", "ORPHA:100031": "Hypoplastic amelogenesis imperfecta", "ORPHA:100034": "Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism", "ORPHA:100033": "Hypomaturation amelogenesis imperfecta", "ORPHA:689231": "IFH1-related hereditary spastic paraplegia", "ORPHA:100035": "Solitary necrotic nodule of the liver", "ORPHA:689234": "RNASEH2B-related hereditary spastic paraplegia", "ORPHA:689401": "Acquired hypothalamic obesity", "ORPHA:689397": "Poirier-Bienvenue neurodevelopmental syndrome", "ORPHA:100039": "Familial pseudohyperkalemia type 1", "ORPHA:689408": "Shashi-Pena syndrome", "ORPHA:100040": "OBSOLETE: Familial pseudohyperkalemia type 2", "ORPHA:689430": "Adenoid ameloblastoma", "ORPHA:100041": "OBSOLETE: Familial pseudohyperkalemia, Cardiff type", "ORPHA:689422": "Okur-Chung neurodevelopmental syndrome", "ORPHA:100043": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A", "ORPHA:100044": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B", "ORPHA:100045": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C", "ORPHA:689829": "Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome", "ORPHA:100046": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "ORPHA:689822": "Structural heart defects-renal anomalies syndrome", "ORPHA:100047": "Esophageal duplication cyst", "ORPHA:100048": "Tubular duplication of the esophagus", "ORPHA:100049": "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies", "ORPHA:100050": "Hereditary angioedema type 1", "ORPHA:100016": "Lissencephaly with cerebellar hypoplasia type F", "ORPHA:100015": "Lissencephaly with cerebellar hypoplasia type E", "ORPHA:647667": "Mandibuloacral dysplasia associated to MTX2", "ORPHA:647676": "Multiple epiphyseal dysplasia type 7", "ORPHA:646113": "Intermediate collagen VI-related muscular dystrophy", "ORPHA:100012": "Lissencephaly with cerebellar hypoplasia type B", "ORPHA:646136": "Dysplastic cortical hyperostosis, Al-Gazali type", "ORPHA:100011": "Lissencephaly with cerebellar hypoplasia type A", "ORPHA:646139": "Dysplastic cortical hyperostosis", "ORPHA:100014": "Lissencephaly with cerebellar hypoplasia type D", "ORPHA:646278": "CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome", "ORPHA:100013": "Lissencephaly with cerebellar hypoplasia type C", "ORPHA:645854": "Multifocal tuberculosis", "ORPHA:100008": "ACys amyloidosis", "ORPHA:645859": "Primary tuberculosis of the digestive system", "ORPHA:645874": "Primary genito-urinary tuberculosis", "ORPHA:646098": "Collagen VI-related congenital muscular dystrophy", "ORPHA:645807": "Primary tuberculous lymphadenitis", "ORPHA:645814": "Primary pulmonary tuberculosis", "ORPHA:100003": "Intraneural perineurioma", "ORPHA:645822": "Primary bone and joint tuberculosis", "ORPHA:100006": "ABeta amyloidosis, Dutch type", "ORPHA:645849": "Primary cutaneous tuberculosis", "ORPHA:645749": "Congenital esophageal stenosis", "ORPHA:100000": "Reticular perineurioma", "ORPHA:645793": "Spontaneous intestinal perforation", "ORPHA:100001": "Sclerosing perineurioma", "ORPHA:100002": "Extraneural perineurioma", "ORPHA:645617": "Amyopathic dermatomyositis", "ORPHA:99995": "Complex regional pain syndrome type 1", "ORPHA:645613": "Classical dermatomyositis", "ORPHA:645626": "Adermatopathic dermatomyositis", "ORPHA:645393": "Hemi-myeloschisis", "ORPHA:99991": "Relapsing epidemic typhus", "ORPHA:645388": "Hemi-myelomeningocele", "ORPHA:645401": "True myeloschisis", "ORPHA:645398": "Myeloschisis", "ORPHA:99994": "Complex regional pain syndrome type 2", "ORPHA:645367": "Conus spinal cord lipoma", "ORPHA:99987": "OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome", "ORPHA:645362": "Dorsal spinal cord lipoma", "ORPHA:645383": "True myelomeningocele", "ORPHA:99989": "Intermediate DEND syndrome", "ORPHA:645378": "Myelic limited dorsal malformation", "ORPHA:99990": "Brill-Zinsser disease", "ORPHA:645354": "Saccular limited dorsal myeloschisis", "ORPHA:99986": "OBSOLETE: Familial restrictive cardiomyopathy type 2", "ORPHA:645359": "Intramedullary non-dysraphic spinal cord lipoma", "ORPHA:99985": "OBSOLETE: Familial restrictive cardiomyopathy type 1", "ORPHA:645343": "Non-saccular limited dorsal myeloschisis", "ORPHA:645350": "Segmental arterial mediolysis", "ORPHA:99983": "Cutaneous myiasis", "ORPHA:645337": "Terminal myelocystocele", "ORPHA:645340": "Non-terminal myelocystocele", "ORPHA:99981": "Apnea of prematurity", "ORPHA:645325": "Isolated filum lipoma", "ORPHA:645334": "Retained medullary cord", "ORPHA:645319": "Saccular spinal dysraphism with a stalk to the dome", "ORPHA:99978": "Klatskin tumor", "ORPHA:645322": "Isolated transitional filum lipoma", "ORPHA:99977": "Squamous cell carcinoma of the esophagus", "ORPHA:645300": "Lipomatous non-saccular limited dorsal myeloschisis", "ORPHA:99976": "Adenocarcinoma of the esophagus", "ORPHA:645310": "Fibroneural non-saccular limited dorsal myeloschisis", "ORPHA:645294": "Posterior extramedullary conus spinal cord lipoma", "ORPHA:99974": "OBSOLETE: TACI-related selective deficiency of IgA", "ORPHA:645297": "Extramedullary conus spinal cord lipoma", "ORPHA:99973": "OBSOLETE: Immunoglobulin A2 deficiency", "ORPHA:645288": "Terminal extramedullary conus spinal cord lipoma", "ORPHA:99972": "OBSOLETE: Immunoglobulin A1 deficiency", "ORPHA:645291": "Transitional extramedullary conus spinal cord lipoma", "ORPHA:99971": "Well-differentiated liposarcoma", "ORPHA:645285": "Chaotic conus spinal cord lipoma", "ORPHA:99969": "Pleomorphic liposarcoma", "ORPHA:645282": "Anomaly of the filum", "ORPHA:99970": "Dedifferentiated liposarcoma", "ORPHA:645279": "Fibrolipomatous filum anomaly", "ORPHA:99967": "Myxoid/round cell liposarcoma", "ORPHA:645276": "Spinal cord lipoma", "ORPHA:645273": "Dysraphic spinal cord lipoma", "ORPHA:99965": "O'Sullivan-McLeod syndrome", "ORPHA:645270": "Open spinal dysraphism with a posterior meningocele", "ORPHA:99966": "Atypical teratoid rhabdoid tumor", "ORPHA:645202": "Closed spinal dysraphism", "ORPHA:645196": "Limited dorsal myeloschisis", "ORPHA:99961": "Benign recurrent intrahepatic cholestasis type 2", "ORPHA:645193": "Dysraphism with stalk", "ORPHA:645188": "Spinal dermal sinus", "ORPHA:99960": "Benign recurrent intrahepatic cholestasis type 1", "ORPHA:643549": "Hao-Fountain syndrome", "ORPHA:643538": "Hao-Fountain syndrome due to USP7 mutation", "ORPHA:643503": "Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome", "ORPHA:99955": "Charcot-Marie-Tooth disease type 4B1", "ORPHA:99956": "Charcot-Marie-Tooth disease type 4B2", "ORPHA:99948": "Charcot-Marie-Tooth disease type 4A", "ORPHA:99947": "Autosomal dominant Charcot-Marie-Tooth disease type 2A2", "ORPHA:99950": "Charcot-Marie-Tooth disease type 4D", "ORPHA:649929": "Central precocious puberty in male", "ORPHA:99949": "Charcot-Marie-Tooth disease type 4C", "ORPHA:99952": "Charcot-Marie-Tooth disease type 4F", "ORPHA:99951": "Charcot-Marie-Tooth disease type 4E", "ORPHA:99954": "Charcot-Marie-Tooth disease type 4H", "ORPHA:99953": "Charcot-Marie-Tooth disease type 4G", "ORPHA:648992": "Non-syndromic bridging bronchus", "ORPHA:99940": "Autosomal dominant Charcot-Marie-Tooth disease type 2F", "ORPHA:99939": "Autosomal dominant Charcot-Marie-Tooth disease type 2E", "ORPHA:649010": "Non-syndromic congenital bronchial atresia", "ORPHA:99942": "Autosomal dominant Charcot-Marie-Tooth disease type 2I", "ORPHA:649014": "Bronchial malformation", "ORPHA:99941": "Autosomal dominant Charcot-Marie-Tooth disease type 2G", "ORPHA:649017": "Rare adrenocortical nodular disease", "ORPHA:99944": "Autosomal dominant Charcot-Marie-Tooth disease type 2K", "ORPHA:649029": "Isolated left bronchial isomerism", "ORPHA:99943": "Autosomal dominant Charcot-Marie-Tooth disease type 2J", "ORPHA:99946": "Autosomal dominant Charcot-Marie-Tooth disease type 2A1", "ORPHA:99945": "Autosomal dominant Charcot-Marie-Tooth disease type 2L", "ORPHA:99931": "Idiopathic pulmonary hemosiderosis", "ORPHA:648684": "Central retinal artery occlusion", "ORPHA:99932": "Heiner syndrome", "ORPHA:648919": "Idiopathic catatonia", "ORPHA:99933": "Pleuropulmonary blastoma type 1", "ORPHA:99934": "Pleuropulmonary blastoma type 2", "ORPHA:99935": "Pleuropulmonary blastoma type 3", "ORPHA:99936": "Autosomal dominant Charcot-Marie-Tooth disease type 2B", "ORPHA:99937": "Autosomal dominant Charcot-Marie-Tooth disease type 2C", "ORPHA:99938": "Autosomal dominant Charcot-Marie-Tooth disease type 2D", "ORPHA:648562": "Ferroportin disease", "ORPHA:648559": "Rare scleritis", "ORPHA:648581": "Digenic hemochromatosis", "ORPHA:99925": "Invasive mole", "ORPHA:648569": "Non-HFE-related hemochromatosis", "ORPHA:99926": "Gestational choriocarcinoma", "ORPHA:648665": "Infectious scleritis", "ORPHA:99927": "Hydatidiform mole", "ORPHA:99928": "Placental site trophoblastic tumor", "ORPHA:648681": "Immune-mediated scleritis", "ORPHA:648675": "Idiopathic scleritis", "ORPHA:99930": "Secondary pulmonary hemosiderosis", "ORPHA:99918": "Streptococcal toxic-shock syndrome", "ORPHA:99917": "Theca steroid-producing cell malignant tumor of ovary, not further specified", "ORPHA:99916": "Malignant Sertoli-Leydig cell tumor of the ovary", "ORPHA:99915": "Malignant granulosa cell tumor of the ovary", "ORPHA:99922": "Ocular cicatricial pemphigoid", "ORPHA:99921": "Chronic graft versus host disease", "ORPHA:99920": "Acute graft versus host disease", "ORPHA:99919": "Staphylococcal toxic-shock syndrome", "ORPHA:99909": "OBSOLETE: Occupational allergic alveolitis", "ORPHA:99908": "OBSOLETE: Pigeon-breeder lung disease", "ORPHA:99907": "OBSOLETE: House allergic alveolitis", "ORPHA:99914": "Gynandroblastoma", "ORPHA:99913": "Extragonadal non-dysgerminomatous germ cell tumor", "ORPHA:99912": "Ovarian dysgerminoma", "ORPHA:647815": "Keratitis fugax hereditaria", "ORPHA:99901": "Acyl-CoA dehydrogenase 9 deficiency", "ORPHA:647811": "Cardiac-urogenital syndrome", "ORPHA:647804": "Combined immunodeficiency due to FCHO1 deficiency", "ORPHA:99900": "Long chain acyl-CoA dehydrogenase deficiency", "ORPHA:647916": "Conjoined twins", "ORPHA:99905": "Streptobacillary rat-bite fever", "ORPHA:99906": "OBSOLETE: Farmer's lung disease", "ORPHA:647834": "SLC40A1-related hemochromatosis", "ORPHA:99903": "Spirillary rat-bite fever", "ORPHA:647823": "Idiopathic pregnancy-associated osteoporosis", "ORPHA:647772": "Isolated primary pigmented nodular adrenocortical disease", "ORPHA:99893": "OBSOLETE: ACTH-independent Cushing syndrome", "ORPHA:647768": "Rare adrenocortical nodular disease with Cushing syndrome as a major feature", "ORPHA:647758": "Adrenal Cushing syndrome", "ORPHA:647681": "Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome", "ORPHA:99892": "ACTH-dependent Cushing syndrome", "ORPHA:647799": "MYT1L-related developmental delay-intellectual disability-obesity syndrome", "ORPHA:647794": "Isolated persistent urogenital sinus", "ORPHA:99898": "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency", "ORPHA:647788": "Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome", "ORPHA:647782": "Isolated micronodular adrenocortical disease", "ORPHA:99879": "Familial isolated hyperparathyroidism", "ORPHA:656283": "Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency", "ORPHA:656279": "1p36.33 duplication syndrome", "ORPHA:99880": "Hyperparathyroidism-jaw tumor syndrome", "ORPHA:656313": "Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency", "ORPHA:656300": "Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency", "ORPHA:99875": "OBSOLETE: Ehlers-Danlos syndrome type 7A", "ORPHA:656130": "PBX1-related congenital anomalies of kidney and urinary tract syndrome", "ORPHA:99876": "OBSOLETE: Ehlers-Danlos syndrome type 7B", "ORPHA:656126": "Segmental spinal dysgenesis", "ORPHA:99877": "OBSOLETE: Familial parathyroid adenoma", "ORPHA:656273": "OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome", "ORPHA:99878": "OBSOLETE: Primary parathyroid hyperplasia", "ORPHA:656135": "Intellectual disability-cupped ears syndrome", "ORPHA:99887": "Acute megakaryoblastic leukemia in children with Down syndrome", "ORPHA:658540": "16q22 deletion syndrome", "ORPHA:99888": "NON RARE IN EUROPE: Adrenocortical adenoma", "ORPHA:656912": "Autosomal dominant combined immunodeficiency due to ERBIN deficiency", "ORPHA:99889": "Cushing syndrome due to ectopic ACTH secretion", "ORPHA:658549": "Idiopathic small fibers neuropathy", "ORPHA:656417": "Embryonal tumor with multilayered rosettes", "ORPHA:656326": "Autosomal recessive combined immunodeficiency due to IL6R deficiency", "ORPHA:99885": "Isolated permanent neonatal diabetes mellitus", "ORPHA:99886": "Transient neonatal diabetes mellitus", "ORPHA:99864": "OBSOLETE: Classic seminoma", "ORPHA:653712": "CHD4-related neurodevelopmental disorder", "ORPHA:653722": "Digenic Alport syndrome", "ORPHA:99866": "OBSOLETE: Metastatic spermatocytic seminoma", "ORPHA:653725": "Autosomal recessive limb-girdle muscular dystrophy, type 28", "ORPHA:99865": "Spermatocytic seminoma", "ORPHA:653728": "Congenital insensitivity to pain syndrome, Marsili type", "ORPHA:99860": "Precursor B-cell acute lymphoblastic leukemia", "ORPHA:99859": "OBSOLETE: Posttraumatic syringomyelia", "ORPHA:653434": "Autoinflammatory syndrome with acne and/or hidradenitis suppurativa", "ORPHA:653698": "Lymphocytic mastitis", "ORPHA:99861": "Precursor T-cell acute lymphoblastic leukemia", "ORPHA:653709": "Cone rod dystrophy-short stature syndrome", "ORPHA:99872": "OBSOLETE: Hashimoto-Pritzker syndrome", "ORPHA:99871": "OBSOLETE: Eosinophilic granuloma", "ORPHA:99874": "OBSOLETE: Adult pulmonary Langerhans cell histiocytosis", "ORPHA:656071": "Atrophic papulosis", "ORPHA:656085": "Benign atrophic papulosis", "ORPHA:99873": "OBSOLETE: Hand-Schüller-Christian disease", "ORPHA:99868": "Thymic carcinoma", "ORPHA:653751": "X-linked combined immunodeficiency due to SASH3 deficiency", "ORPHA:99867": "Thymoma", "ORPHA:653767": "Jansen-de Vries syndrome", "ORPHA:653880": "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency", "ORPHA:99870": "OBSOLETE: Letterer-Siwe disease", "ORPHA:99869": "Thymic neuroendocrine carcinoma", "ORPHA:652519": "Cleft palate-congenital heart defect-intellectual disability syndrome", "ORPHA:99849": "Glycogen storage disease due to muscle beta-enolase deficiency", "ORPHA:652514": "Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation", "ORPHA:652510": "Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa", "ORPHA:652487": "Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome", "ORPHA:99845": "Genetic recurrent myoglobinuria", "ORPHA:650187": "Rare peripheral precocious puberty in female", "ORPHA:99846": "Autosomal dominant myoglobinuria", "ORPHA:650182": "Genetic central precocious puberty", "ORPHA:99843": "Leukocyte adhesion deficiency type II", "ORPHA:650102": "Non-genetic central precocious puberty in male", "ORPHA:99844": "Leukocyte adhesion deficiency type III", "ORPHA:99857": "Secondary syringomyelia", "ORPHA:652681": "Idiopathic subglottic stenosis", "ORPHA:652678": "Primary inferior vena cava aneurysm", "ORPHA:99858": "Idiopathic syringomyelia", "ORPHA:652668": "Primary superior vena cava aneurysm", "ORPHA:99856": "Primary syringomyelia", "ORPHA:652658": "Monomorphic epitheliotropic intestinal T-cell lymphoma", "ORPHA:99853": "Ovarioleukodystrophy", "ORPHA:652650": "Nodal T-follicular helper cell lymphoma, follicular type", "ORPHA:652532": "Adult-onset progressive leukoencephalopathy-early-onset deafness", "ORPHA:99854": "Cree leukoencephalopathy", "ORPHA:652528": "Non-syndromic supernumerary kidneys", "ORPHA:99852": "Ravine syndrome", "ORPHA:652522": "Periodic fever-immunodeficiency-thrombocytopenia syndrome", "ORPHA:99832": "Resistance to thyrotropin-releasing hormone syndrome", "ORPHA:99831": "OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect", "ORPHA:99829": "Yellow fever", "ORPHA:99828": "Dengue fever", "ORPHA:99827": "Crimean-Congo hemorrhagic fever", "ORPHA:650092": "Secondary central precocious puberty in male", "ORPHA:99842": "Leukocyte adhesion deficiency type I", "ORPHA:650097": "Genetic central precocious puberty in male", "ORPHA:650082": "Secondary central precocious puberty in female", "ORPHA:650087": "Primary central precocious puberty in male", "ORPHA:650070": "Rare central precocious puberty in female", "ORPHA:650077": "Genetic central precocious puberty in female", "ORPHA:650063": "Rare central precocious puberty", "ORPHA:99811": "Neuronal intestinal pseudoobstruction", "ORPHA:660017": "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome", "ORPHA:660012": "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation", "ORPHA:99812": "LIG4 syndrome", "ORPHA:660021": "Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome", "ORPHA:660053": "Psittacosis", "ORPHA:661526": "MBD4-related tumor predisposition syndrome", "ORPHA:99817": "Non-polyposis Turcot syndrome", "ORPHA:661412": "Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency", "ORPHA:99818": "Turcot syndrome with polyposis", "ORPHA:662172": "Phelan-McDermid syndrome due to SHANK3 mutation", "ORPHA:99819": "Familial gestational hyperthyroidism", "ORPHA:662169": "Phelan-McDermid syndrome due to 22q13.3 deletion", "ORPHA:662179": "Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome", "ORPHA:662175": "Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome", "ORPHA:662189": "Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome", "ORPHA:662184": "Congenital muscular dystrophy-cataract-intellectual disability syndrome", "ORPHA:99824": "Lassa fever", "ORPHA:662198": "Neurodevelopmental delay-intellectual disability-skeletal defects syndrome", "ORPHA:99825": "Nipah virus disease", "ORPHA:99826": "Marburg hemorrhagic fever", "ORPHA:659707": "Yersinia pseudotuberculosis infection", "ORPHA:99796": "Subcortical band heterotopia", "ORPHA:659712": "Rare yersiniosis", "ORPHA:99798": "Oligodontia", "ORPHA:99797": "Anodontia", "ORPHA:659744": "Ocular surface squamous neoplasia", "ORPHA:659756": "Oroya fever", "ORPHA:659759": "Verruga peruana", "ORPHA:99802": "Hemimegalencephaly", "ORPHA:659873": "Wormian bones-micrognathia-abnormal dentition-progeroid syndrome", "ORPHA:99803": "Haddad syndrome", "ORPHA:99806": "Oculootodental syndrome", "ORPHA:659904": "Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome", "ORPHA:99807": "PEHO-like syndrome", "ORPHA:659908": "Glanders", "ORPHA:99810": "Familial porencephaly", "ORPHA:659975": "Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome", "ORPHA:659396": "Cohen-Gibson syndrome", "ORPHA:99781": "OBSOLETE: Familial articular chondrocalcinosis type 1", "ORPHA:99782": "OBSOLETE: Familial articular chondrocalcinosis type 2", "ORPHA:659387": "PRC-2 complex-related overgrowth spectrum", "ORPHA:658951": "Early-onset immune dysregulation due to DOCK11 complete deficiency", "ORPHA:659626": "Single isolated optic neuritis", "ORPHA:659609": "Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome", "ORPHA:659463": "Imagawa-Matsumoto syndrome", "ORPHA:659672": "Harderoporphyria", "ORPHA:99789": "Dentin dysplasia type I", "ORPHA:659642": "Rauch-Steindl syndrome", "ORPHA:659634": "Relapsing isolated optic neuritis", "ORPHA:659702": "Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome", "ORPHA:659698": "Hepatic cutaneous porphyria", "ORPHA:659694": "Hepatic porphyria", "ORPHA:99791": "Dentin dysplasia type II", "ORPHA:659681": "Erythropoietic porphyria", "ORPHA:99792": "Dentin dysplasia-sclerotic bones syndrome", "ORPHA:658584": "Rowell syndrome", "ORPHA:658590": "Eyelid sebaceous carcinoma", "ORPHA:99764": "OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2", "ORPHA:99763": "OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1", "ORPHA:658574": "Isolated pulmonary artery sling", "ORPHA:658612": "Non-transplant-related bronchiolitis obliterans", "ORPHA:658778": "COQ7-related distal hereditary motor neuropathy", "ORPHA:658595": "DNMT3A-related microcephalic dwarfism", "ORPHA:658602": "Transplant-related bronchiolitis obliterans", "ORPHA:658813": "Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency", "ORPHA:658843": "Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome", "ORPHA:99772": "Cleft velum", "ORPHA:658805": "Greig cephalopolysyndactyly-contiguous gene syndrome", "ORPHA:658810": "Atrophoderma of Pasini and Pierini", "ORPHA:99771": "Bifid uvula", "ORPHA:658917": "Clonorchiasis", "ORPHA:99777": "Achalasia-alacrimia syndrome", "ORPHA:658946": "Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency", "ORPHA:658909": "Fasciolopsiasis", "ORPHA:99776": "Mosaic trisomy 9 syndrome", "ORPHA:658913": "Paragonimiasis", "ORPHA:631073": "Autosomal recessive spastic paraplegia type 82", "ORPHA:631076": "Autosomal recessive spastic paraplegia type 83", "ORPHA:631079": "Autosomal recessive spastic paraplegia type 84", "ORPHA:631082": "Autosomal recessive spastic paraplegia type 85", "ORPHA:631068": "Autosomal dominant spastic paraplegia type 80", "ORPHA:631106": "Spinocerebellar ataxia type 49", "ORPHA:631103": "Spinocerebellar ataxia type 48", "ORPHA:631095": "Spinocerebellar ataxia type 44", "ORPHA:631088": "Autosomal recessive spastic paraplegia type 87", "ORPHA:631085": "Autosomal recessive spastic paraplegia type 86", "ORPHA:631251": "Cancer of unknown primary site", "ORPHA:631248": "Mitchell Syndrome", "ORPHA:626609": "Rare andrological tumor", "ORPHA:634475": "Mosaic NF2-related schwannomatosis", "ORPHA:634492": "Mosaic schwannomatosis", "ORPHA:634511": "Mosaic Legius syndrome", "ORPHA:634518": "Neurofibromatosis/schwannomatosis", "ORPHA:634461": "Mosaic neurofibromatosis type 1", "ORPHA:633228": "Isolated proximal femoral focal deficiency", "ORPHA:637064": "Isolated optic nerve aplasia", "ORPHA:637061": "Isolated optic nerve hypoplasia", "ORPHA:636970": "Autosomal recessive myosin storage myopathy", "ORPHA:636965": "Autosomal dominant myosin storage myopathy", "ORPHA:637051": "Borna virus encephalitis", "ORPHA:637013": "SMARCA2-related blepharophimosis-intellectual disability syndrome", "ORPHA:636945": "Invasive candidiasis", "ORPHA:636941": "Vascular Ehlers-Danlos-polymicrogyria syndrome", "ORPHA:636955": "Endemic pemphigus foliaceus", "ORPHA:636950": "Glaucomatocyclitic crisis disease", "ORPHA:641613": "Endogenous Cushing syndrome", "ORPHA:641829": "Neonatal compartment syndrome", "ORPHA:641496": "Childhood-onset schizophrenia", "ORPHA:641390": "PsAPASH syndrome", "ORPHA:641396": "Central nervous system tuberculosis", "ORPHA:641380": "PAPASH syndrome", "ORPHA:641385": "PASS syndrome", "ORPHA:641375": "B-lymphoblastic leukemia/lymphoma with t(17;19)", "ORPHA:641368": "Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency", "ORPHA:641372": "B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)", "ORPHA:641353": "Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome", "ORPHA:641361": "Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome", "ORPHA:641343": "Imprinting disorders", "ORPHA:641350": "Immunotherapy induced hypophysitis", "ORPHA:642976": "Perrault syndrome type 2", "ORPHA:642965": "Autosomal recessive ataxia due to PEX2 deficiency", "ORPHA:642954": "Autosomal recessive ataxia due to PEX16 deficiency", "ORPHA:642945": "Perrault syndrome type 1", "ORPHA:642788": "Cushing syndrome due to cortisol-producing adrenocortical adenoma", "ORPHA:642763": "Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation", "ORPHA:642747": "PUM1-related cerebellar ataxia", "ORPHA:642737": "OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature", "ORPHA:642691": "Fragile X-associated primary ovarian insufficiency", "ORPHA:642675": "CHD8 overgrowth syndrome", "ORPHA:642671": "Familial hyperaldosteronism type IV", "ORPHA:642099": "Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type", "ORPHA:642085": "EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity", "ORPHA:642071": "Primary pulmonary vein stenosis", "ORPHA:642013": "OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor", "ORPHA:632603": "Mesomelic dysplasia-digital anomalies-intellectual disability syndrome", "ORPHA:633021": "SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome", "ORPHA:633024": "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome", "ORPHA:633004": "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome", "ORPHA:633014": "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome", "ORPHA:633211": "Preaxial digit brachydactyly-webbed fingers", "ORPHA:633124": "Invasive scopulariopsis infection", "ORPHA:633035": "Intellectual disability-early-onset cataract-microcephaly syndrome", "ORPHA:633028": "CPE-related Prader-Willi-like syndrome", "ORPHA:633099": "PAICS deficiency", "ORPHA:633076": "Split cord malformation, composite type", "ORPHA:615938": "Spastic paraparesis-cataracts-speech delay syndrome", "ORPHA:615943": "Granuloma faciale", "ORPHA:615986": "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster", "ORPHA:615970": "Chronic intervillositis of unknown etiology", "ORPHA:615983": "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation", "ORPHA:615954": "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome", "ORPHA:615964": "Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate", "ORPHA:617449": "Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome", "ORPHA:617408": "Classic eosinophilic pustular folliculitis", "ORPHA:617440": "Painful legs and moving toes syndrome", "ORPHA:617307": "Rare disorder related to monochorionic twin pregnancy", "ORPHA:617304": "Amniotic fluid embolism", "ORPHA:617313": "Rare disorder due to inadequate sharing of the placenta", "ORPHA:617310": "Rare disorder due to unbalanced inter-twin blood transfusion", "ORPHA:617294": "Twin anemia-polycythemia sequence", "ORPHA:616874": "Rare disorder without a determined diagnosis after full investigation", "ORPHA:617301": "Selective intrauterine growth restriction", "ORPHA:617297": "Twin-reversed arterial perfusion sequence", "ORPHA:621758": "Fibrosis-neurodegeneration-cerebral angiomatosis syndrome", "ORPHA:620371": "Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation", "ORPHA:620368": "EGF-related primary hypomagnesemia with intellectual disability", "ORPHA:620363": "Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome", "ORPHA:620217": "Bartter syndrome type 1", "ORPHA:620220": "Bartter syndrome type 2", "ORPHA:620205": "Non-syndromic bicoronal and sagittal craniosynostosis", "ORPHA:620212": "Non-syndromic pansynostosis", "ORPHA:620192": "Non-syndromic metopic and sagittal craniosynostosis", "ORPHA:620198": "Non-syndromic bicoronal and metopic craniosynostosis", "ORPHA:620178": "Non-syndromic bilambdoid craniosynostosis", "ORPHA:620186": "Non-syndromic unicoronal and sagittal craniosynostosis", "ORPHA:620152": "Non-syndromic multisutural craniosynostosis", "ORPHA:620158": "Non-syndromic non-specific multisutural craniosynostosis", "ORPHA:620139": "Non-syndromic unifrontosphenoidal craniosynostosis", "ORPHA:620146": "Non-syndromic unisquamosal craniosynostosis", "ORPHA:620102": "Non-syndromic unicoronal craniosynostosis", "ORPHA:620113": "Non-syndromic unilambdoid craniosynostosis", "ORPHA:620096": "Non-syndromic unisutural craniosynostosis", "ORPHA:624268": "Non-specific autoimmune cerebellar ataxia without characteristic antibodies", "ORPHA:624259": "Non-specific autoimmune cerebellar ataxia with characteristic antibodies", "ORPHA:624199": "Non-specific autoimmune brainstem encephalitis with characteristic antibodies", "ORPHA:624190": "Paraneoplastic isolated brainstem encephalitis", "ORPHA:624244": "Postinfectious cerebellitis", "ORPHA:624216": "Non-specific autoimmune brainstem encephalitis without characteristic antibodies", "ORPHA:623789": "Body integrity dysphoria", "ORPHA:623801": "Acute flaccid myelitis", "ORPHA:624166": "Non-specific autoimmune supratentorial encephalitis with characteristic antibodies", "ORPHA:624178": "Non-specific autoimmune supratentorial encephalitis without characteristic antibodies", "ORPHA:623615": "Autoimmune limbic encephalitis", "ORPHA:623626": "Paraneoplastic cerebellar degeneration", "ORPHA:623638": "Immune-mediated cerebellar ataxia", "ORPHA:623695": "MIR140-related spondyloepiphyseal dysplasia", "ORPHA:622925": "X-linked severe syndromic thoracic aortic aneurysm and dissection", "ORPHA:622934": "SBDS-related severe neonatal spondylometaphyseal dysplasia", "ORPHA:622014": "Autoimmune encephalitis", "ORPHA:622099": "Superior mesenteric artery syndrome", "ORPHA:622720": "Genetic autoinflammatory syndrome with skin involvement", "ORPHA:622914": "Rare genetic nevus", "ORPHA:618899": "Acid sphingomyelinase deficiency", "ORPHA:618891": "Chronic neurovisceral acid sphingomyelinase deficiency", "ORPHA:617910": "Conjunctival malignant melanoma", "ORPHA:617916": "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia", "ORPHA:617919": "F12-associated cold autoinflammatory syndrome", "ORPHA:617930": "Hemophilia B Leyden", "ORPHA:619941": "Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency", "ORPHA:619367": "SAMD9L-associated autoinflammatory syndrome", "ORPHA:619953": "Familial hyperinflammatory lymphoproliferative immunodeficiency", "ORPHA:619948": "Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency", "ORPHA:619979": "Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome", "ORPHA:619972": "CADINS disease", "ORPHA:619249": "Rare hereditary connective tissue disease", "ORPHA:619284": "Narcolepsy", "ORPHA:619340": "Inherited hematologic cancer-predisposing syndrome", "ORPHA:619363": "NOCARH syndrome", "ORPHA:619360": "NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin", "ORPHA:619233": "Hereditary persistence of fetal hemoglobin-intellectual disability syndrome", "ORPHA:619238": "Rare hereditary autoinflammatory disease" }