| 3-Methylglutaconic aciduria type 3 | 2 | Nov 28, 2024 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 3 | Dec 31, 2024 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 5 | Nov 28, 2024 |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 1 | Nov 28, 2024 |
| 3-methylglutaconic aciduria type 1 | 1 | Nov 28, 2024 |
| 3-methylglutaconic aciduria, type VIIA | 1 | Nov 28, 2024 |
| 3-methylglutaconic aciduria, type VIIB | 1 | Nov 28, 2024 |
| 3M syndrome 1 | 2 | Nov 28, 2024 |
| 3M syndrome 2 | 3 | Nov 28, 2024 |
| 46,XX sex reversal 4 | 1 | Nov 28, 2024 |
| 46,XY sex reversal 11 | 1 | Nov 28, 2024 |
| 46,XY sex reversal 2 | 3 | Nov 28, 2024 |
| 46,XY sex reversal 3 | 1 | Nov 28, 2024 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 7 | Nov 28, 2024 |
| ACTB-associated syndromic thrombocytopenia | 1 | Dec 31, 2024 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 7 | Nov 28, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2 | Nov 28, 2024 |
| ALG1-congenital disorder of glycosylation | 1 | Nov 28, 2024 |
| ALG6-congenital disorder of glycosylation 1C | 1 | Nov 28, 2024 |
| Aarskog syndrome | 1 | Nov 28, 2024 |
| Acheiropodia | 1 | Nov 28, 2024 |
| Achondrogenesis type II | 11 | Nov 28, 2024 |
| Achondrogenesis, type IB | 3 | Nov 28, 2024 |
| Achondroplasia | 5 | Nov 28, 2024 |
| Achromatopsia 2 | 3 | Nov 28, 2024 |
| Achromatopsia 4 | 1 | Nov 28, 2024 |
| Acne inversa, familial, 3 | 1 | Nov 28, 2024 |
| Acquired hemoglobin H disease | 3 | Nov 28, 2024 |
| Acquired polycythemia vera | 1 | Nov 28, 2024 |
| Acrocapitofemoral dysplasia | 1 | Nov 28, 2024 |
| Acrocephalosyndactyly type I | 3 | Nov 28, 2024 |
| Acrodermatitis continua suppurativa of Hallopeau | 2 | Dec 31, 2024 |
| Acrodysostosis 2 with or without hormone resistance | 2 | Nov 28, 2024 |
| Acromelic frontonasal dysostosis | 1 | Nov 28, 2024 |
| Acromesomelic dysplasia 1, Maroteaux type | 1 | Nov 28, 2024 |
| Acromesomelic dysplasia 2B | 2 | Nov 28, 2024 |
| Acromesomelic dysplasia 2C, Hunter-Thompson type | 2 | Nov 28, 2024 |
| Acromicric dysplasia | 12 | Nov 28, 2024 |
| Actin accumulation myopathy | 1 | Nov 28, 2024 |
| Acute intermittent porphyria | 2 | Nov 28, 2024 |
| Acute lymphoid leukemia | 2 | Nov 28, 2024 |
| Acute myeloid leukemia | 5 | Nov 28, 2024 |
| Adams-Oliver syndrome 2 | 2 | Nov 28, 2024 |
| Adams-Oliver syndrome 5 | 1 | Nov 28, 2024 |
| Adenylosuccinate lyase deficiency | 1 | Nov 28, 2024 |
| Adrenocortical carcinoma, hereditary | 1 | Nov 28, 2024 |
| Adrenoleukodystrophy | 5 | Nov 28, 2024 |
| Adult hypophosphatasia | 5 | Nov 28, 2024 |
| Adult polyglucosan body disease | 1 | Nov 28, 2024 |
| Agammaglobulinemia 7, autosomal recessive | 1 | Nov 28, 2024 |
| Age related macular degeneration 1 | 1 | Nov 28, 2024 |
| Age related macular degeneration 2 | 16 | Dec 31, 2024 |
| Age related macular degeneration 5 | 1 | Nov 28, 2024 |
| Agenesis of the corpus callosum with peripheral neuropathy | 1 | Nov 28, 2024 |
| Aicardi-Goutieres syndrome 1 | 1 | Nov 28, 2024 |
| Aicardi-Goutieres syndrome 6 | 2 | Nov 28, 2024 |
| Alagille syndrome due to a JAG1 point mutation | 5 | Nov 28, 2024 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | Nov 28, 2024 |
| Alexander disease | 2 | Nov 28, 2024 |
| Alkaptonuria | 3 | Nov 28, 2024 |
| Alkuraya-Kucinskas syndrome | 2 | Nov 28, 2024 |
| Allan-Herndon-Dudley syndrome | 2 | Nov 28, 2024 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 3 | Nov 28, 2024 |
| Alpha-1-antitrypsin deficiency | 1 | Nov 28, 2024 |
| Alport syndrome 3b, autosomal recessive | 2 | Nov 28, 2024 |
| Alstrom syndrome | 3 | Nov 28, 2024 |
| Alternating hemiplegia of childhood 1 | 1 | Nov 28, 2024 |
| Alternating hemiplegia of childhood 2 | 5 | Nov 28, 2024 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Nov 28, 2024 |
| Alveolar rhabdomyosarcoma | 2 | Nov 28, 2024 |
| Alzahrani-Kuwahara syndrome | 2 | Nov 28, 2024 |
| Alzheimer disease 3 | 1 | Nov 28, 2024 |
| Alzheimer disease type 1 | 1 | Nov 28, 2024 |
| Amelogenesis imperfecta hypomaturation type 2A3 | 1 | Nov 28, 2024 |
| Aminoacylase 1 deficiency | 3 | Nov 28, 2024 |
| Amyloidosis, hereditary systemic 1 | 3 | Nov 28, 2024 |
| Amyloidosis, primary localized cutaneous, 1 | 2 | Nov 28, 2024 |
| Amyloidosis, primary localized cutaneous, 3 | 3 | Nov 28, 2024 |
| Amyotrophic lateral sclerosis type 1 | 1 | Nov 28, 2024 |
| Amyotrophic lateral sclerosis type 11 | 1 | Nov 28, 2024 |
| Amyotrophic lateral sclerosis type 23 | 1 | Nov 28, 2024 |
| Amyotrophic lateral sclerosis type 5 | 2 | Nov 28, 2024 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 3 | Nov 28, 2024 |
| Androgen resistance syndrome | 2 | Nov 28, 2024 |
| Anemia, congenital dyserythropoietic, type 1a | 2 | Nov 28, 2024 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 8 | Dec 31, 2024 |
| Aneurysm-osteoarthritis syndrome | 1 | Nov 28, 2024 |
| Angelman syndrome | 2 | Nov 28, 2024 |
| Aniridia 1 | 4 | Nov 28, 2024 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Nov 28, 2024 |
| Anterior segment dysgenesis 3 | 1 | Nov 28, 2024 |
| Anterior segment dysgenesis 6 | 1 | Nov 28, 2024 |
| Anterior segment dysgenesis 8 | 1 | Nov 28, 2024 |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 3 | Nov 28, 2024 |
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 3 | Nov 28, 2024 |
| Aortic aneurysm, familial thoracic 4 | 1 | Nov 28, 2024 |
| Aortic aneurysm, familial thoracic 6 | 3 | Nov 28, 2024 |
| Aortic valve disease 1 | 1 | Nov 28, 2024 |
| Aortic valve disease 3 | 1 | Nov 28, 2024 |
| Aplastic anemia | 5 | Nov 28, 2024 |
| Arginase deficiency | 2 | Nov 28, 2024 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 6 | Nov 28, 2024 |
| Arrhythmogenic right ventricular dysplasia 10 | 5 | Nov 28, 2024 |
| Arrhythmogenic right ventricular dysplasia 11 | 1 | Nov 28, 2024 |
| Arrhythmogenic right ventricular dysplasia 8 | 7 | Nov 28, 2024 |
| Arrhythmogenic right ventricular dysplasia 9 | 7 | Nov 28, 2024 |
| Arterial calcification, generalized, of infancy, 2 | 1 | Nov 28, 2024 |
| Arthrogryposis multiplex congenita 3, myogenic type | 3 | Nov 28, 2024 |
| Arthrogryposis multiplex congenita 6 | 2 | Dec 31, 2024 |
| Arthrogryposis, distal, type 2B2 | 1 | Nov 28, 2024 |
| Arthrogryposis, distal, type 2B3 | 4 | Nov 28, 2024 |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 1 | Dec 31, 2024 |
| Asphyxiating thoracic dystrophy 2 | 2 | Nov 28, 2024 |
| Asphyxiating thoracic dystrophy 3 | 14 | Dec 31, 2024 |
| Asphyxiating thoracic dystrophy 4 | 1 | Nov 28, 2024 |
| Asphyxiating thoracic dystrophy 5 | 2 | Nov 28, 2024 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 | Nov 28, 2024 |
| Ataxia-pancytopenia syndrome | 1 | Nov 28, 2024 |
| Ataxia-telangiectasia syndrome | 12 | Nov 28, 2024 |
| Ataxia-telangiectasia-like disorder 1 | 1 | Nov 28, 2024 |
| Atelosteogenesis type I | 3 | Nov 28, 2024 |
| Atelosteogenesis type II | 3 | Nov 28, 2024 |
| Atelosteogenesis type III | 3 | Nov 28, 2024 |
| Atrial fibrillation, familial, 10 | 11 | Nov 28, 2024 |
| Atrial fibrillation, familial, 13 | 2 | Nov 28, 2024 |
| Atrial fibrillation, familial, 18 | 1 | Nov 28, 2024 |
| Atrial fibrillation, familial, 3 | 7 | Nov 28, 2024 |
| Atrial septal defect 3 | 1 | Nov 28, 2024 |
| Atrial septal defect 5 | 1 | Nov 28, 2024 |
| Atrophia bulborum hereditaria | 2 | Nov 28, 2024 |
| Atypical glycine encephalopathy | 2 | Nov 28, 2024 |
| Au-Kline syndrome | 1 | Nov 28, 2024 |
| Auditory neuropathy-optic atrophy syndrome | 2 | Nov 28, 2024 |
| Auriculocondylar syndrome 2 | 1 | Nov 28, 2024 |
| Auriculocondylar syndrome 2B | 1 | Nov 28, 2024 |
| Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 1 | Nov 28, 2024 |
| Autism spectrum disorder due to AUTS2 deficiency | 2 | Nov 28, 2024 |
| Autism, susceptibility to, 17 | 2 | Nov 28, 2024 |
| Autism, susceptibility to, 5 | 1 | Nov 28, 2024 |
| Autism, susceptibility to, X-linked 2 | 1 | Nov 28, 2024 |
| Autism, susceptibility to, X-linked 3 | 4 | Nov 28, 2024 |
| Autism, susceptibility to, X-linked 4 | 1 | Nov 28, 2024 |
| Autoimmune lymphoproliferative syndrome type 4 | 1 | Nov 28, 2024 |
| Autosomal dominant Alport syndrome | 4 | Nov 28, 2024 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Nov 28, 2024 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Nov 28, 2024 |
| Autosomal dominant deafness - onychodystrophy syndrome | 1 | Nov 28, 2024 |
| Autosomal dominant distal renal tubular acidosis | 2 | Nov 28, 2024 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 2 | Nov 28, 2024 |
| Autosomal dominant hypocalcemia 1 | 2 | Nov 28, 2024 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Nov 28, 2024 |
| Autosomal dominant isolated somatotropin deficiency | 1 | Nov 28, 2024 |
| Autosomal dominant keratitis | 2 | Nov 28, 2024 |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 4 | Nov 28, 2024 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Nov 28, 2024 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 | Nov 28, 2024 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 11 | 13 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 12 | 4 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 15 | 2 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 22 | 5 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 2A | 3 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 2B | 1 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 36 | 4 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 3A | 4 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 3B | 1 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 4A | 2 | Dec 31, 2024 |
| Autosomal dominant nonsyndromic hearing loss 5 | 2 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 56 | 1 | Nov 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 6 | 10 | Dec 31, 2024 |
| Autosomal dominant nonsyndromic hearing loss 65 | 3 | Nov 28, 2024 |
| Autosomal dominant optic atrophy classic form | 1 | Nov 28, 2024 |
| Autosomal dominant osteopetrosis 1 | 1 | Dec 31, 2024 |
| Autosomal dominant popliteal pterygium syndrome | 3 | Nov 28, 2024 |
| Autosomal dominant vitreoretinochoroidopathy | 2 | Nov 28, 2024 |
| Autosomal recessive Alport syndrome | 14 | Nov 28, 2024 |
| Autosomal recessive DOPA responsive dystonia | 1 | Nov 28, 2024 |
| Autosomal recessive Kenny-Caffey syndrome | 1 | Nov 28, 2024 |
| Autosomal recessive Parkinson disease 14 | 4 | Nov 28, 2024 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 2 | Nov 28, 2024 |
| Autosomal recessive ataxia, Beauce type | 3 | Nov 28, 2024 |
| Autosomal recessive bestrophinopathy | 6 | Dec 31, 2024 |
| Autosomal recessive congenital ichthyosis 10 | 3 | Dec 31, 2024 |
| Autosomal recessive congenital ichthyosis 2 | 6 | Nov 28, 2024 |
| Autosomal recessive congenital ichthyosis 4A | 4 | Nov 28, 2024 |
| Autosomal recessive congenital ichthyosis 4B | 4 | Nov 28, 2024 |
| Autosomal recessive early-onset Parkinson disease 23 | 1 | Nov 28, 2024 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 2 | Nov 28, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 3 | Nov 28, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Nov 28, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 | Nov 28, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Nov 28, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 40 | Nov 28, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 2 | Nov 28, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Nov 28, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 2 | Nov 28, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 2 | Nov 28, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 1 | Nov 28, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 1 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 12 | 3 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 16 | 3 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 1A | 17 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 1B | 1 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 2 | 14 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 21 | 4 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 23 | 2 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 28 | 2 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 3 | 15 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 37 | 5 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 4 | 20 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 42 | 1 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 66 | 1 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 7 | 4 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 8 | 4 | Dec 31, 2024 |
| Autosomal recessive nonsyndromic hearing loss 84A | 1 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 84B | 3 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 86 | 3 | Nov 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 9 | 4 | Nov 28, 2024 |
| Autosomal recessive osteopetrosis 1 | 3 | Nov 28, 2024 |
| Autosomal recessive spinocerebellar ataxia 10 | 1 | Nov 28, 2024 |
| Avascular necrosis of femoral head, primary, 1 | 10 | Nov 28, 2024 |
| Avascular necrosis of femoral head, primary, 2 | 1 | Nov 28, 2024 |
| Avellino corneal dystrophy | 1 | Nov 28, 2024 |
| Axenfeld-Rieger syndrome type 3 | 1 | Nov 28, 2024 |
| BAP1-related tumor predisposition syndrome | 2 | Nov 28, 2024 |
| BLOOD GROUP--DIEGO SYSTEM | 2 | Nov 28, 2024 |
| BLOOD GROUP--FROESE | 2 | Nov 28, 2024 |
| BLOOD GROUP--SWANN SYSTEM | 2 | Nov 28, 2024 |
| BLOOD GROUP--WALDNER TYPE | 2 | Nov 28, 2024 |
| BLOOD GROUP--WRIGHT ANTIGEN | 2 | Nov 28, 2024 |
| BNAR syndrome | 1 | Nov 28, 2024 |
| Baraitser-Winter syndrome 1 | 2 | Dec 31, 2024 |
| Baraitser-winter syndrome 2 | 2 | Nov 28, 2024 |
| Bardet-Biedl syndrome 10 | 1 | Nov 28, 2024 |
| Bardet-Biedl syndrome 11 | 1 | Nov 28, 2024 |
| Bardet-Biedl syndrome 14 | 5 | Dec 31, 2024 |
| Bardet-Biedl syndrome 2 | 2 | Nov 28, 2024 |
| Bardet-Biedl syndrome 7 | 1 | Nov 28, 2024 |
| Bartter disease type 2 | 2 | Nov 28, 2024 |
| Bartter disease type 3 | 2 | Nov 28, 2024 |
| Bartter disease type 4B | 1 | Nov 28, 2024 |
| Bartter disease type 5 | 1 | Nov 28, 2024 |
| Basal cell carcinoma, susceptibility to, 1 | 2 | Nov 28, 2024 |
| Basal cell carcinoma, susceptibility to, 7 | 1 | Nov 28, 2024 |
| Basal cell nevus syndrome 1 | 5 | Nov 28, 2024 |
| Basilicata-Akhtar syndrome | 1 | Nov 28, 2024 |
| Beare-Stevenson cutis gyrata syndrome | 3 | Nov 28, 2024 |
| Becker muscular dystrophy | 19 | Nov 28, 2024 |
| Becker nevus syndrome | 1 | Dec 31, 2024 |
| Beckwith-Wiedemann syndrome | 2 | Nov 28, 2024 |
| Benign recurrent intrahepatic cholestasis type 1 | 1 | Nov 28, 2024 |
| Bent bone dysplasia syndrome 1 | 3 | Nov 28, 2024 |
| Beta-D-mannosidosis | 1 | Nov 28, 2024 |
| Beta-thalassemia HBB/LCRB | 8 | Nov 28, 2024 |
| Bethlem myopathy 1A | 2 | Nov 28, 2024 |
| Bietti crystalline corneoretinal dystrophy | 5 | Dec 31, 2024 |
| Bifunctional peroxisomal enzyme deficiency | 2 | Nov 28, 2024 |
| Bilateral parasagittal parieto-occipital polymicrogyria | 1 | Nov 28, 2024 |
| Bilirubin, serum level of, quantitative trait locus 1 | 8 | Dec 31, 2024 |
| Biotinidase deficiency | 1 | Nov 28, 2024 |
| Birt-Hogg-Dube syndrome 1 | 3 | Nov 28, 2024 |
| Bleeding disorder, platelet-type, 24 | 1 | Nov 28, 2024 |
| Blepharocheilodontic syndrome 1 | 1 | Nov 28, 2024 |
| Blepharocheilodontic syndrome 2 | 2 | Nov 28, 2024 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 2 | Nov 28, 2024 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 4 | Nov 28, 2024 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 10 | Nov 28, 2024 |
| Bloom syndrome | 2 | Nov 28, 2024 |
| Bohring-Opitz syndrome | 1 | Nov 28, 2024 |
| Bone marrow failure syndrome 5 | 1 | Nov 28, 2024 |
| Bone mineral density quantitative trait locus 1 | 1 | Dec 31, 2024 |
| Bone osteosarcoma | 6 | Nov 28, 2024 |
| Boomerang dysplasia | 3 | Nov 28, 2024 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Dec 31, 2024 |
| Brachydactyly type A1 | 1 | Nov 28, 2024 |
| Brachydactyly type A1C | 2 | Nov 28, 2024 |
| Brachydactyly type B1 | 2 | Nov 28, 2024 |
| Brachydactyly type B2 | 2 | Nov 28, 2024 |
| Brachydactyly type C | 2 | Nov 28, 2024 |
| Brachydactyly type E2 | 1 | Nov 28, 2024 |
| Brachyrachia (short spine dysplasia) | 1 | Nov 28, 2024 |
| Brain malformations with or without urinary tract defects | 2 | Nov 28, 2024 |
| Brain small vessel disease 1 with or without ocular anomalies | 1 | Nov 28, 2024 |
| Branchiootic syndrome 1 | 4 | Nov 28, 2024 |
| Branchiootic syndrome 3 | 2 | Nov 28, 2024 |
| Branchiootorenal syndrome 1 | 4 | Nov 28, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 17 | Dec 31, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 32 | Dec 31, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 1 | Nov 28, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 3 | Nov 28, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 11 | Dec 31, 2024 |
| Brody myopathy | 1 | Nov 28, 2024 |
| Bronchiectasis with or without elevated sweat chloride 1 | 9 | Nov 28, 2024 |
| Brugada syndrome 1 | 14 | Dec 31, 2024 |
| Brugada syndrome 3 | 3 | Dec 31, 2024 |
| Brugada syndrome 5 | 2 | Nov 28, 2024 |
| Brugada syndrome 9 | 1 | Nov 28, 2024 |
| Budd-Chiari syndrome | 1 | Nov 28, 2024 |
| CBL-related disorder | 1 | Nov 28, 2024 |
| CHARGE syndrome | 8 | Nov 28, 2024 |
| CLOVES syndrome | 1 | Nov 28, 2024 |
| COACH syndrome 1 | 1 | Nov 28, 2024 |
| COACH syndrome 2 | 11 | Nov 28, 2024 |
| COG5-congenital disorder of glycosylation | 2 | Nov 28, 2024 |
| Café-au-lait macules with pulmonary stenosis | 43 | Nov 28, 2024 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 3 | Nov 28, 2024 |
| Camptomelic dysplasia | 1 | Nov 28, 2024 |
| Capillary infantile hemangioma | 1 | Nov 28, 2024 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Nov 27, 2024 |
| Capillary malformation-arteriovenous malformation 2 | 5 | Nov 28, 2024 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Nov 28, 2024 |
| Cardiac valvular dysplasia, X-linked | 3 | Nov 28, 2024 |
| Cardiofaciocutaneous syndrome 1 | 2 | Nov 28, 2024 |
| Cardiofaciocutaneous syndrome 2 | 2 | Nov 28, 2024 |
| Cardiofaciocutaneous syndrome 4 | 1 | Nov 28, 2024 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 7 | Nov 28, 2024 |
| Cardiomyopathy, familial hypertrophic 27 | 1 | Nov 28, 2024 |
| Cardiomyopathy, familial restrictive, 1 | 3 | Nov 28, 2024 |
| Cardiomyopathy, familial restrictive, 3 | 3 | Nov 28, 2024 |
| Cardiospondylocarpofacial syndrome | 2 | Nov 28, 2024 |
| Carney-Stratakis syndrome | 4 | Dec 31, 2024 |
| Carnitine palmitoyl transferase 1A deficiency | 3 | Nov 28, 2024 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 2 | Nov 28, 2024 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 2 | Nov 28, 2024 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 2 | Nov 28, 2024 |
| Carpal tunnel syndrome 1 | 1 | Nov 28, 2024 |
| Carpal tunnel syndrome 2 | 2 | Nov 28, 2024 |
| Cataract 1 multiple types | 2 | Nov 28, 2024 |
| Cataract 10 multiple types | 1 | Nov 28, 2024 |
| Cataract 14 multiple types | 1 | Nov 28, 2024 |
| Cataract 23 | 1 | Nov 28, 2024 |
| Cataract 3 multiple types | 2 | Nov 28, 2024 |
| Cataract 36 | 1 | Nov 28, 2024 |
| Cataract 4 multiple types | 1 | Nov 28, 2024 |
| Cataract 40 | 1 | Nov 28, 2024 |
| Cataract 41 | 8 | Nov 28, 2024 |
| Cataract 45 | 2 | Nov 28, 2024 |
| Cataract 6 multiple types | 1 | Nov 28, 2024 |
| Cataract 9 multiple types | 1 | Nov 28, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 5 | Dec 31, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 1 | Nov 28, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 2 | Nov 28, 2024 |
| Central core myopathy | 10 | Dec 31, 2024 |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Nov 28, 2024 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 4 | Nov 28, 2024 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 2 | Nov 28, 2024 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 2 | Nov 28, 2024 |
| Cerebral amyloid angiopathy, APP-related | 1 | Nov 28, 2024 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 5 | Nov 28, 2024 |
| Cerebral arteriovenous malformation | 1 | Nov 28, 2024 |
| Cerebrooculofacioskeletal syndrome 1 | 1 | Nov 28, 2024 |
| Cerebrooculofacioskeletal syndrome 2 | 1 | Nov 28, 2024 |
| Cerebrooculofacioskeletal syndrome 3 | 1 | Nov 28, 2024 |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 1 | Nov 28, 2024 |
| Cervical cancer | 3 | Nov 28, 2024 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 2 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 4 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease axonal type 2T | 3 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease axonal type 2X | 2 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease axonal type 2Z | 2 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease dominant intermediate D | 2 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease recessive intermediate A | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease type 1B | 2 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease type 1F | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease type 2B1 | 3 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease type 2E | 2 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease type 2I | 2 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease type 2J | 2 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease type 4A | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease type 4B3 | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease type 4C | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease type 4J | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease, axonal, IIa 2II | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease, axonal, Type 2HH | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 2 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 1 | Nov 28, 2024 |
| Charcot-Marie-Tooth disease, dominant intermediate G | 1 | Nov 28, 2024 |
| Childhood hypophosphatasia | 5 | Nov 28, 2024 |
| Chitayat syndrome | 1 | Nov 28, 2024 |
| Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 4 | Nov 28, 2024 |
| Cholestanol storage disease | 2 | Nov 28, 2024 |
| Cholestasis, progressive familial intrahepatic, 10 | 1 | Nov 28, 2024 |
| Cholestasis, progressive familial intrahepatic, 4 | 2 | Nov 28, 2024 |
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 1 | Nov 28, 2024 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 2 | Nov 28, 2024 |
| Chondrodysplasia punctata 2 X-linked dominant | 1 | Nov 28, 2024 |
| Chondrosarcoma | 2 | Nov 28, 2024 |
| Chopra-Amiel-Gordon syndrome | 1 | Nov 28, 2024 |
| Choroid plexus papilloma | 1 | Nov 28, 2024 |
| Choroidal dystrophy, central areolar 2 | 1 | Dec 31, 2024 |
| Choroidal dystrophy, central areolar, 1 | 3 | Nov 28, 2024 |
| Choroideremia | 1 | Nov 28, 2024 |
| Chromosome 2p16.3 deletion syndrome | 3 | Nov 28, 2024 |
| Chromosome 2q32-q33 deletion syndrome | 3 | Nov 28, 2024 |
| Chuvash polycythemia | 2 | Nov 28, 2024 |
| Ciliary dyskinesia, primary, 37 | 8 | Dec 31, 2024 |
| Ciliary dyskinesia, primary, 40 | 2 | Nov 28, 2024 |
| Citrullinemia type I | 2 | Nov 28, 2024 |
| Citrullinemia, type II, adult-onset | 3 | Nov 28, 2024 |
| Clark-Baraitser syndrome | 2 | Nov 28, 2024 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 15 | Nov 28, 2024 |
| Classic homocystinuria | 3 | Nov 28, 2024 |
| Cobalamin C disease | 7 | Nov 28, 2024 |
| Cockayne syndrome type 2 | 3 | Nov 28, 2024 |
| Coffin-Lowry syndrome | 3 | Nov 28, 2024 |
| Coffin-Siris syndrome 1 | 1 | Nov 28, 2024 |
| Coffin-Siris syndrome 12 | 1 | Nov 28, 2024 |
| Coffin-Siris syndrome 8 | 2 | Nov 28, 2024 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Nov 28, 2024 |
| Cohen syndrome | 5 | Nov 28, 2024 |
| Coloboma of optic nerve | 2 | Nov 28, 2024 |
| Coloboma, ocular, autosomal dominant | 2 | Nov 28, 2024 |
| Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 2 | Nov 28, 2024 |
| Colorectal cancer | 14 | Nov 28, 2024 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 2 | Nov 28, 2024 |
| Colorectal cancer, hereditary nonpolyposis, type 6 | 1 | Nov 28, 2024 |
| Combined immunodeficiency due to LRBA deficiency | 3 | Nov 28, 2024 |
| Combined immunodeficiency, X-linked | 1 | Nov 28, 2024 |
| Combined malonic and methylmalonic acidemia | 2 | Nov 28, 2024 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 12 | Nov 28, 2024 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 3 | Nov 28, 2024 |
| Combined oxidative phosphorylation defect type 17 | 1 | Nov 28, 2024 |
| Combined oxidative phosphorylation defect type 20 | 1 | Nov 28, 2024 |
| Combined oxidative phosphorylation defect type 8 | 2 | Nov 28, 2024 |
| Combined oxidative phosphorylation deficiency 35 | 2 | Nov 28, 2024 |
| Complement component 6 deficiency | 1 | Nov 28, 2024 |
| Complement component 9 deficiency | 1 | Nov 28, 2024 |
| Complex cortical dysplasia with other brain malformations 1 | 2 | Dec 31, 2024 |
| Complex cortical dysplasia with other brain malformations 4 | 1 | Nov 28, 2024 |
| Complex cortical dysplasia with other brain malformations 6 | 1 | Nov 28, 2024 |
| Cone monochromatism | 1 | Nov 28, 2024 |
| Cone-rod dystrophy 12 | 2 | Nov 28, 2024 |
| Cone-rod dystrophy 3 | 16 | Dec 31, 2024 |
| Cone-rod dystrophy 6 | 3 | Nov 28, 2024 |
| Cone-rod dystrophy 9 | 1 | Nov 28, 2024 |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 | Nov 28, 2024 |
| Congenital adrenal hypoplasia, X-linked | 3 | Nov 28, 2024 |
| Congenital afibrinogenemia | 5 | Nov 28, 2024 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 19 | Nov 28, 2024 |
| Congenital bile acid synthesis defect 1 | 1 | Nov 28, 2024 |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 1 | Nov 28, 2024 |
| Congenital contractural arachnodactyly | 2 | Nov 28, 2024 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 2 | Nov 28, 2024 |
| Congenital diarrhea 5 with tufting enteropathy | 1 | Nov 28, 2024 |
| Congenital disorder of deglycosylation 1 | 2 | Nov 28, 2024 |
| Congenital disorder of glycosylation, type 2v | 3 | Nov 28, 2024 |
| Congenital disorder of glycosylation, type IIr | 1 | Nov 28, 2024 |
| Congenital disorder of glycosylation, type Iw, autosomal dominant | 1 | Nov 28, 2024 |
| Congenital dyserythropoietic anemia, type II | 2 | Nov 28, 2024 |
| Congenital factor VII deficiency | 5 | Nov 28, 2024 |
| Congenital fibrosis of extraocular muscles type 1 | 1 | Nov 28, 2024 |
| Congenital generalized lipodystrophy type 2 | 3 | Nov 28, 2024 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2 | Nov 28, 2024 |
| Congenital heart defects, multiple types, 7 | 1 | Nov 28, 2024 |
| Congenital hereditary endothelial dystrophy of cornea | 1 | Nov 28, 2024 |
| Congenital hyperammonemia, type I | 2 | Nov 28, 2024 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 | Nov 28, 2024 |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 2 | Dec 31, 2024 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 1 | Nov 28, 2024 |
| Congenital microvillous atrophy | 1 | Nov 28, 2024 |
| Congenital multicore myopathy with external ophthalmoplegia | 10 | Dec 31, 2024 |
| Congenital muscular dystrophy due to LMNA mutation | 2 | Nov 28, 2024 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2 | Nov 28, 2024 |
| Congenital muscular hypertrophy-cerebral syndrome | 2 | Nov 28, 2024 |
| Congenital myasthenic syndrome 11 | 2 | Dec 31, 2024 |
| Congenital myasthenic syndrome 13 | 1 | Nov 28, 2024 |
| Congenital myasthenic syndrome 16 | 5 | Nov 28, 2024 |
| Congenital myasthenic syndrome 4A | 1 | Nov 28, 2024 |
| Congenital myasthenic syndrome 4B | 1 | Nov 28, 2024 |
| Congenital myasthenic syndrome 4C | 1 | Nov 28, 2024 |
| Congenital myasthenic syndrome 8 | 1 | Nov 28, 2024 |
| Congenital myopathy 22A, classic | 4 | Nov 28, 2024 |
| Congenital myopathy 22B, severe fetal | 2 | Nov 28, 2024 |
| Congenital myopathy 2c, severe infantile, autosomal dominant | 1 | Nov 28, 2024 |
| Congenital myopathy 4A, autosomal dominant | 1 | Nov 28, 2024 |
| Congenital myotonia, autosomal dominant form | 3 | Nov 28, 2024 |
| Congenital myotonia, autosomal recessive form | 3 | Nov 28, 2024 |
| Congenital short bowel syndrome, autosomal recessive | 1 | Nov 28, 2024 |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 | Nov 28, 2024 |
| Congenital smooth muscle hamartoma, with or without hemihypertrophy | 1 | Dec 31, 2024 |
| Congenital stationary night blindness 1E | 3 | Nov 28, 2024 |
| Congenital stationary night blindness autosomal dominant 2 | 1 | Nov 28, 2024 |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 4 | Nov 28, 2024 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 4 | Nov 28, 2024 |
| Corneal dystrophy, Fuchs endothelial, 3 | 2 | Nov 28, 2024 |
| Corneal dystrophy, Fuchs endothelial, 4 | 1 | Nov 28, 2024 |
| Corneal dystrophy, Fuchs endothelial, 6 | 1 | Nov 28, 2024 |
| Corneal dystrophy, lattice type 3A | 1 | Nov 28, 2024 |
| Corneal dystrophy-perceptive deafness syndrome | 1 | Nov 28, 2024 |
| Cornelia de Lange syndrome 1 | 4 | Nov 28, 2024 |
| Cornelia de Lange syndrome 5 | 3 | Nov 28, 2024 |
| Coronary artery disease, autosomal dominant 2 | 1 | Nov 28, 2024 |
| Coronary heart disease, susceptibility to, 7 | 4 | Nov 28, 2024 |
| Corpus callosum agenesis-abnormal genitalia syndrome | 2 | Nov 28, 2024 |
| Costello syndrome | 6 | Nov 28, 2024 |
| Cowden syndrome 1 | 7 | Nov 28, 2024 |
| Cranioectodermal dysplasia 1 | 1 | Nov 28, 2024 |
| Cranioectodermal dysplasia 4 | 2 | Nov 28, 2024 |
| Craniofacial microsomia 1 | 1 | Nov 28, 2024 |
| Craniofacial-deafness-hand syndrome | 2 | Nov 28, 2024 |
| Craniosynostosis 4 | 1 | Nov 28, 2024 |
| Creatine transporter deficiency | 3 | Nov 28, 2024 |
| Crigler-Najjar syndrome type 1 | 8 | Dec 31, 2024 |
| Crigler-Najjar syndrome, type II | 8 | Dec 31, 2024 |
| Crouzon syndrome | 4 | Nov 28, 2024 |
| Crouzon syndrome-acanthosis nigricans syndrome | 3 | Nov 28, 2024 |
| Cryohydrocytosis | 2 | Nov 28, 2024 |
| Curry-Hall syndrome | 2 | Nov 28, 2024 |
| Cutaneous mastocytosis | 1 | Nov 28, 2024 |
| Cutis laxa, X-linked | 2 | Nov 28, 2024 |
| Cystic fibrosis | 14 | Nov 28, 2024 |
| Cystinuria | 1 | Nov 28, 2024 |
| D-2-hydroxyglutaric aciduria 1 | 2 | Nov 28, 2024 |
| DDX41-related hematologic malignancy predisposition syndrome | 3 | Nov 28, 2024 |
| DE SANCTIS-CACCHIONE SYNDROME | 1 | Nov 28, 2024 |
| DNA ligase IV deficiency | 2 | Nov 28, 2024 |
| DOORS syndrome | 3 | Nov 28, 2024 |
| DPAGT1-congenital disorder of glycosylation | 1 | Nov 28, 2024 |
| DYRK1A-related intellectual disability syndrome | 2 | Nov 28, 2024 |
| Dalmatian hypouricemia | 1 | Nov 28, 2024 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 3 | Nov 28, 2024 |
| Deafness, congenital heart defects, and posterior embryotoxon | 2 | Nov 28, 2024 |
| Deeah syndrome | 2 | Nov 28, 2024 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2 | Nov 28, 2024 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2 | Nov 28, 2024 |
| Deficiency of acetyl-CoA acetyltransferase | 1 | Nov 28, 2024 |
| Deficiency of alpha-mannosidase | 1 | Nov 28, 2024 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 2 | Nov 28, 2024 |
| Deficiency of butyryl-CoA dehydrogenase | 3 | Nov 28, 2024 |
| Deficiency of butyrylcholinesterase | 2 | Dec 31, 2024 |
| Deficiency of guanidinoacetate methyltransferase | 1 | Nov 28, 2024 |
| Deficiency of iodide peroxidase | 2 | Nov 28, 2024 |
| Deficiency of isobutyryl-CoA dehydrogenase | 1 | Nov 28, 2024 |
| Deficiency of steroid 17-alpha-monooxygenase | 4 | Nov 28, 2024 |
| Delpire-McNeill syndrome | 1 | Nov 28, 2024 |
| Dermatitis, atopic, 2 | 17 | Dec 31, 2024 |
| Desmin-related myofibrillar myopathy | 2 | Nov 28, 2024 |
| Desmoid disease, hereditary | 6 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy 101 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy 6B | 14 | Dec 31, 2024 |
| Developmental and epileptic encephalopathy 94 | 5 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy 96 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy 98 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy 99 | 4 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 1 | 2 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 11 | 7 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 13 | 2 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 14 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 16 | 3 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 18 | 1 | Dec 31, 2024 |
| Developmental and epileptic encephalopathy, 19 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 2 | 3 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 23 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 24 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 26 | 2 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 27 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 31A | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 38 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 4 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 42 | 5 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 44 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 50 | 2 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 52 | 2 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 61 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 62 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 66 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 7 | 6 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 74 | 2 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 75 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 79 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 8 | 1 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 2 | Nov 28, 2024 |
| Developmental and epileptic encephalopathy, 9 | 1 | Nov 28, 2024 |
| Developmental delay and seizures with or without movement abnormalities | 1 | Nov 28, 2024 |
| Developmental delay with autism spectrum disorder and gait instability | 3 | Nov 28, 2024 |
| Developmental delay with or without dysmorphic facies and autism | 2 | Nov 28, 2024 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 3 | Nov 28, 2024 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | 1 | Nov 28, 2024 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 3 | Nov 28, 2024 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | Nov 28, 2024 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 2 | Nov 28, 2024 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 2 | Nov 28, 2024 |
| Developmental malformations-deafness-dystonia syndrome | 1 | Dec 31, 2024 |
| Diabetes insipidus, nephrogenic, X-linked | 2 | Nov 28, 2024 |
| Diabetes mellitus, permanent neonatal 3 | 1 | Nov 28, 2024 |
| Diabetes mellitus, permanent neonatal 4 | 1 | Nov 28, 2024 |
| Diabetes mellitus, transient neonatal, 2 | 1 | Nov 28, 2024 |
| Diamond-Blackfan anemia 1 | 1 | Nov 28, 2024 |
| Dias-Logan syndrome | 2 | Nov 28, 2024 |
| Diastrophic dysplasia | 3 | Nov 28, 2024 |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 1 | Nov 28, 2024 |
| Diets-Jongmans syndrome | 1 | Nov 28, 2024 |
| Dihydropyrimidinase deficiency | 3 | Nov 28, 2024 |
| Dilated cardiomyopathy 1A | 3 | Nov 28, 2024 |
| Dilated cardiomyopathy 1BB | 4 | Nov 28, 2024 |
| Dilated cardiomyopathy 1D | 3 | Nov 28, 2024 |
| Dilated cardiomyopathy 1DD | 1 | Nov 28, 2024 |
| Dilated cardiomyopathy 1E | 11 | Nov 28, 2024 |
| Dilated cardiomyopathy 1EE | 1 | Nov 28, 2024 |
| Dilated cardiomyopathy 1FF | 3 | Nov 28, 2024 |
| Dilated cardiomyopathy 1G | 61 | Nov 28, 2024 |
| Dilated cardiomyopathy 1I | 2 | Nov 28, 2024 |
| Dilated cardiomyopathy 1NN | 1 | Nov 28, 2024 |
| Dilated cardiomyopathy 1P | 1 | Nov 28, 2024 |
| Dilated cardiomyopathy 1R | 1 | Nov 28, 2024 |
| Dilated cardiomyopathy 1S | 6 | Dec 31, 2024 |
| Dilated cardiomyopathy 1U | 1 | Nov 28, 2024 |
| Dilated cardiomyopathy 1W | 1 | Nov 28, 2024 |
| Dilated cardiomyopathy 1Y | 3 | Nov 28, 2024 |
| Dilated cardiomyopathy 2A | 3 | Nov 28, 2024 |
| Dilated cardiomyopathy 3B | 17 | Nov 28, 2024 |
| Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 2 | Nov 28, 2024 |
| Distal arthrogryposis type 2B1 | 1 | Nov 28, 2024 |
| Distal myopathy with anterior tibial onset | 2 | Nov 28, 2024 |
| Distal myopathy with posterior leg and anterior hand involvement | 6 | Nov 28, 2024 |
| Distichiasis-lymphedema syndrome | 1 | Nov 28, 2024 |
| Dizygotic twins | 2 | Nov 28, 2024 |
| Dominant beta-thalassemia | 1 | Nov 28, 2024 |
| Dominant dystrophic epidermolysis bullosa with absence of skin | 2 | Nov 28, 2024 |
| Donnai-Barrow syndrome | 4 | Dec 31, 2024 |
| Dowling-Degos disease 1 | 1 | Nov 28, 2024 |
| Drash syndrome | 1 | Nov 28, 2024 |
| Duane retraction syndrome 2 | 1 | Nov 28, 2024 |
| Duane-radial ray syndrome | 1 | Nov 28, 2024 |
| Dubin-Johnson syndrome | 10 | Nov 28, 2024 |
| Duchenne muscular dystrophy | 20 | Nov 28, 2024 |
| Dystonia 12 | 4 | Nov 28, 2024 |
| Dystonia 24 | 1 | Nov 28, 2024 |
| Dystonia 28, childhood-onset | 3 | Nov 28, 2024 |
| Dystonia 31 | 1 | Nov 28, 2024 |
| Dystonia 5 | 1 | Nov 28, 2024 |
| Early-onset myopathy with fatal cardiomyopathy | 40 | Nov 28, 2024 |
| Early-onset parkinsonism-intellectual disability syndrome | 1 | Nov 28, 2024 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 1 | Nov 28, 2024 |
| Ectopia lentis 1, isolated, autosomal dominant | 12 | Nov 28, 2024 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Nov 28, 2024 |
| Ehlers-Danlos syndrome, arthrochalasia type | 11 | Nov 28, 2024 |
| Ehlers-Danlos syndrome, cardiac valvular type | 3 | Nov 28, 2024 |
| Ehlers-Danlos syndrome, classic type, 1 | 4 | Nov 28, 2024 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | Nov 28, 2024 |
| Ehlers-Danlos syndrome, classic-like, 2 | 1 | Nov 28, 2024 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 1 | Nov 28, 2024 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 1 | Nov 28, 2024 |
| Ehlers-Danlos syndrome, type 4 | 6 | Nov 28, 2024 |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 3 | Nov 28, 2024 |
| Elliptocytosis 2 | 1 | Nov 28, 2024 |
| Elliptocytosis 3 | 4 | Nov 28, 2024 |
| Ellis-van Creveld syndrome | 6 | Nov 28, 2024 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 3 | Nov 28, 2024 |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 2 | Nov 28, 2024 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 3 | Nov 28, 2024 |
| Encephalocraniocutaneous lipomatosis | 1 | Nov 28, 2024 |
| Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2 | Nov 28, 2024 |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 1 | Nov 28, 2024 |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 2 | Nov 28, 2024 |
| Endometrial carcinoma | 6 | Dec 31, 2024 |
| Enhanced S-cone syndrome | 1 | Nov 28, 2024 |
| Epidermal nevus | 7 | Nov 28, 2024 |
| Epidermolysis bullosa pruriginosa | 2 | Nov 28, 2024 |
| Epidermolysis bullosa simplex 2A, generalized severe | 1 | Nov 28, 2024 |
| Epidermolysis bullosa simplex 2B, generalized intermediate | 1 | Nov 28, 2024 |
| Epidermolysis bullosa simplex 2C, localized | 1 | Nov 28, 2024 |
| Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive | 1 | Nov 28, 2024 |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 2 | Nov 28, 2024 |
| Epidermolysis bullosa simplex with migratory circinate erythema | 1 | Nov 28, 2024 |
| Epidermolysis bullosa simplex with mottled pigmentation | 1 | Nov 28, 2024 |
| Epidermolysis bullosa, junctional 2A, intermediate | 2 | Nov 28, 2024 |
| Epidermolysis bullosa, junctional 2B, severe | 2 | Nov 28, 2024 |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 2 | Nov 28, 2024 |
| Epidermolytic palmoplantar keratoderma, 1 | 3 | Nov 28, 2024 |
| Epilepsy, childhood absence, susceptibility to, 6 | 3 | Nov 28, 2024 |
| Epilepsy, familial focal, with variable foci 1 | 6 | Nov 28, 2024 |
| Epilepsy, familial focal, with variable foci 2 | 1 | Nov 28, 2024 |
| Epilepsy, familial focal, with variable foci 4 | 2 | Nov 28, 2024 |
| Epilepsy, familial temporal lobe, 1 | 1 | Nov 28, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Nov 28, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 1 | Nov 28, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 2 | Nov 28, 2024 |
| Epiphyseal dysplasia, multiple, 3 | 4 | Nov 28, 2024 |
| Episodic ataxia type 1 | 1 | Nov 28, 2024 |
| Episodic ataxia type 2 | 3 | Nov 28, 2024 |
| Episodic ataxia, type 9 | 7 | Nov 28, 2024 |
| Episodic kinesigenic dyskinesia 1 | 5 | Nov 28, 2024 |
| Epithelial basement membrane dystrophy | 1 | Nov 28, 2024 |
| Epsilon-trimethyllysine hydroxylase deficiency | 1 | Nov 28, 2024 |
| Erythrocytosis, familial, 6 | 1 | Nov 28, 2024 |
| Erythrocytosis, familial, 7 | 2 | Nov 28, 2024 |
| Erythrokeratodermia variabilis et progressiva 1 | 1 | Nov 28, 2024 |
| Erythrokeratodermia variabilis et progressiva 4 | 1 | Nov 28, 2024 |
| Euthyroid goiter | 1 | Nov 28, 2024 |
| Exostoses, multiple, type 1 | 3 | Nov 28, 2024 |
| Exostoses, multiple, type 2 | 8 | Nov 28, 2024 |
| Exudative vitreoretinopathy 1 | 1 | Nov 28, 2024 |
| Exudative vitreoretinopathy 2, X-linked | 2 | Nov 28, 2024 |
| Exudative vitreoretinopathy 4 | 4 | Dec 31, 2024 |
| Exudative vitreoretinopathy 5 | 2 | Nov 28, 2024 |
| Exudative vitreoretinopathy 7 | 1 | Nov 28, 2024 |
| FG syndrome 1 | 2 | Nov 28, 2024 |
| FG syndrome 2 | 3 | Nov 28, 2024 |
| FG syndrome 4 | 1 | Nov 28, 2024 |
| Fabry disease | 2 | Nov 28, 2024 |
| Factor V and factor VIII, combined deficiency of, type 1 | 1 | Nov 28, 2024 |
| Factor XII deficiency disease | 2 | Nov 28, 2024 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 5 | Nov 28, 2024 |
| Familial adenomatous polyposis 1 | 8 | Nov 28, 2024 |
| Familial adenomatous polyposis 2 | 2 | Nov 28, 2024 |
| Familial adenomatous polyposis 4 | 1 | Nov 28, 2024 |
| Familial benign pemphigus | 1 | Nov 28, 2024 |
| Familial cancer of breast | 58 | Dec 31, 2024 |
| Familial cold autoinflammatory syndrome 2 | 1 | Nov 28, 2024 |
| Familial digital arthropathy-brachydactyly | 1 | Nov 28, 2024 |
| Familial dysfibrinogenemia | 8 | Nov 28, 2024 |
| Familial episodic pain syndrome with predominantly lower limb involvement | 1 | Nov 28, 2024 |
| Familial hyperaldosteronism type II | 1 | Nov 28, 2024 |
| Familial hyperaldosteronism type III | 1 | Nov 28, 2024 |
| Familial hypobetalipoproteinemia 1 | 4 | Nov 28, 2024 |
| Familial hypocalciuric hypercalcemia 1 | 2 | Nov 28, 2024 |
| Familial hypokalemia-hypomagnesemia | 18 | Nov 28, 2024 |
| Familial infantile myoclonic epilepsy | 3 | Nov 28, 2024 |
| Familial juvenile hyperuricemic nephropathy type 1 | 3 | Nov 28, 2024 |
| Familial medullary thyroid carcinoma | 1 | Nov 28, 2024 |
| Familial meningioma | 5 | Nov 28, 2024 |
| Familial pancreatic carcinoma | 4 | Nov 28, 2024 |
| Familial partial lipodystrophy, Dunnigan type | 2 | Nov 28, 2024 |
| Familial prostate cancer | 39 | Dec 31, 2024 |
| Familial scaphocephaly syndrome, McGillivray type | 3 | Nov 28, 2024 |
| Familial spontaneous pneumothorax | 2 | Nov 28, 2024 |
| Familial temporal lobe epilepsy 7 | 2 | Nov 28, 2024 |
| Fanconi anemia complementation group A | 4 | Dec 31, 2024 |
| Fanconi anemia complementation group D1 | 28 | Dec 31, 2024 |
| Fanconi anemia complementation group D2 | 1 | Nov 28, 2024 |
| Fanconi anemia complementation group J | 2 | Nov 28, 2024 |
| Fanconi anemia complementation group L | 1 | Nov 28, 2024 |
| Fanconi anemia complementation group N | 10 | Dec 31, 2024 |
| Fanconi anemia complementation group O | 1 | Nov 28, 2024 |
| Fanconi anemia, complementation group S | 11 | Dec 31, 2024 |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 | Nov 28, 2024 |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 2 | Nov 28, 2024 |
| Febrile seizures, familial, 4 | 3 | Nov 28, 2024 |
| Febrile seizures, familial, 8 | 1 | Nov 28, 2024 |
| Female infertility due to zona pellucida defect | 4 | Nov 28, 2024 |
| Fetal akinesia deformation sequence 2 | 2 | Dec 31, 2024 |
| Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 1 | Nov 28, 2024 |
| Fibrochondrogenesis 1 | 2 | Nov 28, 2024 |
| Fibromatosis, gingival, 1 | 1 | Nov 28, 2024 |
| Fibromuscular dysplasia, multifocal | 2 | Nov 28, 2024 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 2 | Dec 31, 2024 |
| Finnish congenital nephrotic syndrome | 4 | Nov 28, 2024 |
| Fliedner-Zweier syndrome | 2 | Nov 28, 2024 |
| Floating-Harbor syndrome | 2 | Nov 28, 2024 |
| Focal dermal hypoplasia | 1 | Dec 31, 2024 |
| Focal segmental glomerulosclerosis 7 | 1 | Nov 28, 2024 |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 2 | Nov 28, 2024 |
| Foveal hypoplasia 1 | 2 | Nov 28, 2024 |
| Fraser syndrome 2 | 1 | Nov 28, 2024 |
| Frasier syndrome | 1 | Nov 28, 2024 |
| Freeman-Sheldon syndrome | 4 | Nov 28, 2024 |
| Frontometaphyseal dysplasia 1 | 4 | Nov 28, 2024 |
| Frontometaphyseal dysplasia 2 | 1 | Nov 28, 2024 |
| Frontotemporal dementia | 3 | Nov 28, 2024 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 | Nov 28, 2024 |
| Fructose-biphosphatase deficiency | 1 | Nov 28, 2024 |
| GM1 gangliosidosis type 2 | 2 | Nov 28, 2024 |
| GNE myopathy | 5 | Nov 28, 2024 |
| GRACILE syndrome | 1 | Nov 28, 2024 |
| GTP cyclohydrolase I deficiency with hyperphenylalaninemia | 1 | Nov 28, 2024 |
| Gabriele de Vries syndrome | 1 | Nov 28, 2024 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Nov 28, 2024 |
| Gastric adenocarcinoma and proximal polyposis of the stomach | 6 | Nov 28, 2024 |
| Gastric cancer | 12 | Nov 28, 2024 |
| Gastrointestinal stromal tumor | 4 | Dec 31, 2024 |
| Gaucher disease perinatal lethal | 6 | Dec 31, 2024 |
| Gaucher disease type I | 8 | Dec 31, 2024 |
| Gaucher disease type II | 6 | Dec 31, 2024 |
| Gaucher disease type III | 6 | Dec 31, 2024 |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 6 | Dec 31, 2024 |
| Geleophysic dysplasia 2 | 12 | Nov 28, 2024 |
| Generalized dominant dystrophic epidermolysis bullosa | 2 | Nov 28, 2024 |
| Generalized epilepsy with febrile seizures plus, type 1 | 2 | Nov 28, 2024 |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 | Nov 28, 2024 |
| Generalized epilepsy with febrile seizures plus, type 2 | 17 | Dec 31, 2024 |
| Genitopatellar syndrome | 2 | Nov 28, 2024 |
| Genitourinary and/or brain malformation syndrome | 1 | Nov 28, 2024 |
| Germ cell tumor of testis | 5 | Nov 28, 2024 |
| Gilbert syndrome | 8 | Dec 31, 2024 |
| Glanzmann thrombasthenia 1 | 2 | Nov 28, 2024 |
| Glanzmann thrombasthenia 2 | 1 | Nov 28, 2024 |
| Glaucoma 3A | 1 | Nov 28, 2024 |
| Glioma susceptibility 1 | 1 | Nov 28, 2024 |
| Glioma susceptibility 2 | 4 | Nov 28, 2024 |
| Glioma susceptibility 3 | 28 | Dec 31, 2024 |
| Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | 1 | Nov 28, 2024 |
| Global developmental delay with or without impaired intellectual development | 2 | Nov 28, 2024 |
| Global developmental delay with speech and behavioral abnormalities | 3 | Nov 28, 2024 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 1 | Nov 28, 2024 |
| Globozoospermia | 1 | Nov 28, 2024 |
| Glomuvenous malformation | 2 | Nov 28, 2024 |
| Glucose-6-phosphate transport defect | 1 | Nov 28, 2024 |
| Glutaric aciduria, type 1 | 6 | Nov 28, 2024 |
| Glycogen storage disease IXa1 | 1 | Nov 28, 2024 |
| Glycogen storage disease IXb | 2 | Nov 28, 2024 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 3 | Nov 28, 2024 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 | Nov 28, 2024 |
| Glycogen storage disease type III | 2 | Nov 28, 2024 |
| Glycogen storage disease, type II | 5 | Nov 28, 2024 |
| Glycogen storage disease, type IV | 2 | Nov 28, 2024 |
| Glycogen storage disease, type V | 3 | Nov 28, 2024 |
| Glycogen storage disease, type VII | 1 | Dec 31, 2024 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 1 | Nov 28, 2024 |
| Goldberg-Shprintzen syndrome | 1 | Nov 28, 2024 |
| Grange syndrome | 1 | Nov 28, 2024 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 1 | Nov 28, 2024 |
| Gray platelet syndrome | 3 | Nov 28, 2024 |
| Grebe syndrome | 2 | Nov 28, 2024 |
| Greenberg dysplasia | 1 | Nov 28, 2024 |
| Greig cephalopolysyndactyly syndrome | 3 | Dec 31, 2024 |
| Groenouw corneal dystrophy type I | 1 | Nov 28, 2024 |
| Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 1 | Nov 28, 2024 |
| Growth delay due to insulin-like growth factor I resistance | 2 | Nov 28, 2024 |
| Guttmacher syndrome | 2 | Nov 28, 2024 |
| H syndrome | 1 | Dec 31, 2024 |
| Hand-foot-genital syndrome | 2 | Nov 28, 2024 |
| Hao-Fountain syndrome due to USP7 mutation | 1 | Nov 28, 2024 |
| Hartsfield-Bixler-Demyer syndrome | 1 | Nov 28, 2024 |
| Hb SS disease | 1 | Nov 28, 2024 |
| Hearing loss, autosomal dominant 37 | 2 | Nov 28, 2024 |
| Hearing loss, autosomal dominant 76 | 1 | Nov 28, 2024 |
| Hearing loss, autosomal dominant 78 | 1 | Nov 28, 2024 |
| Hearing loss, autosomal dominant 80 | 1 | Nov 28, 2024 |
| Hearing loss, autosomal recessive 111 | 2 | Nov 28, 2024 |
| Hearing loss, autosomal recessive 117 | 1 | Nov 28, 2024 |
| Hearing loss, autosomal recessive 57 | 1 | Nov 28, 2024 |
| Heart-hand syndrome, Slovenian type | 2 | Nov 28, 2024 |
| Heimler syndrome 1 | 1 | Nov 28, 2024 |
| Heimler syndrome 2 | 2 | Nov 28, 2024 |
| Heinz body anemia | 3 | Nov 28, 2024 |
| Hematuria, benign familial, 1 | 15 | Nov 28, 2024 |
| Hematuria, benign familial, 2 | 2 | Nov 28, 2024 |
| Hemochromatosis type 1 | 2 | Nov 28, 2024 |
| Hemochromatosis type 2B | 2 | Nov 28, 2024 |
| Hemochromatosis type 3 | 1 | Dec 31, 2024 |
| Hemochromatosis type 4 | 1 | Nov 28, 2024 |
| Hemoglobin H disease | 2 | Nov 28, 2024 |
| Hemorrhage, intracerebral, susceptibility to | 1 | Nov 28, 2024 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 1 | Nov 28, 2024 |
| Heparin cofactor II deficiency | 1 | Nov 28, 2024 |
| Hepatic methionine adenosyltransferase deficiency | 5 | Nov 28, 2024 |
| Hepatocellular carcinoma | 8 | Nov 28, 2024 |
| Hereditary angioedema type 1 | 1 | Nov 28, 2024 |
| Hereditary antithrombin deficiency | 6 | Nov 28, 2024 |
| Hereditary diffuse gastric adenocarcinoma | 2 | Nov 28, 2024 |
| Hereditary factor IX deficiency disease | 2 | Dec 31, 2024 |
| Hereditary factor VIII deficiency disease | 9 | Nov 28, 2024 |
| Hereditary factor XI deficiency disease | 7 | Nov 28, 2024 |
| Hereditary lymphedema type I | 1 | Nov 28, 2024 |
| Hereditary pancreatitis | 11 | Nov 28, 2024 |
| Hereditary persistence of fetal hemoglobin | 1 | Nov 28, 2024 |
| Hereditary sensory and autonomic neuropathy type 6 | 2 | Nov 28, 2024 |
| Hereditary spastic paraplegia 11 | 3 | Nov 28, 2024 |
| Hereditary spastic paraplegia 17 | 1 | Nov 28, 2024 |
| Hereditary spastic paraplegia 26 | 1 | Nov 28, 2024 |
| Hereditary spastic paraplegia 31 | 1 | Nov 28, 2024 |
| Hereditary spastic paraplegia 3A | 1 | Nov 28, 2024 |
| Hereditary spastic paraplegia 4 | 4 | Nov 28, 2024 |
| Hereditary spastic paraplegia 56 | 4 | Dec 31, 2024 |
| Hereditary spastic paraplegia 5A | 1 | Nov 28, 2024 |
| Hereditary spastic paraplegia 63 | 2 | Nov 28, 2024 |
| Hereditary spastic paraplegia 74 | 1 | Nov 28, 2024 |
| Hereditary spherocytosis type 1 | 8 | Dec 31, 2024 |
| Hereditary spherocytosis type 2 | 8 | Nov 28, 2024 |
| Hereditary spherocytosis type 3 | 1 | Nov 28, 2024 |
| Hereditary spherocytosis type 4 | 5 | Nov 28, 2024 |
| Hermansky-Pudlak syndrome 1 | 2 | Nov 28, 2024 |
| Hermansky-Pudlak syndrome 3 | 1 | Nov 28, 2024 |
| Hermansky-Pudlak syndrome 5 | 1 | Nov 28, 2024 |
| Hermansky-Pudlak syndrome 6 | 2 | Nov 28, 2024 |
| Heterotaxy, visceral, 5, autosomal | 1 | Nov 28, 2024 |
| Heterotaxy, visceral, 8, autosomal | 1 | Nov 28, 2024 |
| Heterotopia, periventricular, X-linked dominant | 5 | Nov 28, 2024 |
| Heyn-Sproul-Jackson syndrome | 2 | Nov 28, 2024 |
| Hidrotic ectodermal dysplasia syndrome | 1 | Nov 28, 2024 |
| Hirschsprung disease, susceptibility to, 1 | 1 | Nov 28, 2024 |
| Hogue-Janssens syndrome 1 | 1 | Nov 28, 2024 |
| Holocarboxylase synthetase deficiency | 2 | Nov 28, 2024 |
| Holoprosencephaly 12 with or without pancreatic agenesis | 1 | Nov 28, 2024 |
| Holoprosencephaly 2 | 1 | Nov 28, 2024 |
| Holoprosencephaly 7 | 1 | Nov 28, 2024 |
| Holoprosencephaly 9 | 5 | Nov 28, 2024 |
| Holt-Oram syndrome | 2 | Nov 28, 2024 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 4 | Nov 28, 2024 |
| Houge-Janssens syndrome 2 | 1 | Nov 28, 2024 |
| Houge-Janssens syndrome 3 | 1 | Nov 28, 2024 |
| Hurler syndrome | 3 | Nov 28, 2024 |
| Hutchinson-Gilford syndrome | 2 | Nov 28, 2024 |
| Hydatidiform mole, recurrent, 1 | 2 | Nov 28, 2024 |
| Hydatidiform mole, recurrent, 3 | 2 | Nov 28, 2024 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 2 | Nov 28, 2024 |
| Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 1 | Nov 28, 2024 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | Nov 28, 2024 |
| Hyper-IgM syndrome type 1 | 1 | Nov 28, 2024 |
| Hyper-IgM syndrome type 2 | 1 | Nov 28, 2024 |
| Hyperaldosteronism, familial, type IV | 3 | Nov 28, 2024 |
| Hypercalcemia, infantile, 2 | 2 | Nov 28, 2024 |
| Hypercholanemia, familial 1 | 2 | Nov 28, 2024 |
| Hypercholesterolemia, autosomal dominant, 3 | 3 | Nov 28, 2024 |
| Hypercholesterolemia, autosomal dominant, type B | 7 | Dec 31, 2024 |
| Hypercholesterolemia, familial, 1 | 48 | Dec 31, 2024 |
| Hypercholesterolemia, familial, 4 | 1 | Nov 28, 2024 |
| Hyperimmunoglobulin D with periodic fever | 1 | Nov 28, 2024 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 3 | Nov 28, 2024 |
| Hyperinsulinism due to INSR deficiency | 2 | Nov 28, 2024 |
| Hyperinsulinism due to glucokinase deficiency | 4 | Nov 28, 2024 |
| Hyperkalemic periodic paralysis | 5 | Nov 28, 2024 |
| Hyperlipidemia, familial combined, LPL related | 2 | Nov 28, 2024 |
| Hyperlipoproteinemia, type I | 3 | Nov 28, 2024 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 1 | Nov 28, 2024 |
| Hyperparathyroidism 1 | 1 | Nov 28, 2024 |
| Hyperparathyroidism 2 with jaw tumors | 1 | Nov 28, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 5 | 2 | Nov 28, 2024 |
| Hyperthyroxinemia, dystransthyretinemic | 1 | Nov 28, 2024 |
| Hypertrophic cardiomyopathy 1 | 13 | Dec 31, 2024 |
| Hypertrophic cardiomyopathy 10 | 1 | Nov 28, 2024 |
| Hypertrophic cardiomyopathy 11 | 2 | Nov 28, 2024 |
| Hypertrophic cardiomyopathy 14 | 1 | Nov 28, 2024 |
| Hypertrophic cardiomyopathy 15 | 1 | Nov 28, 2024 |
| Hypertrophic cardiomyopathy 2 | 3 | Nov 28, 2024 |
| Hypertrophic cardiomyopathy 26 | 8 | Nov 28, 2024 |
| Hypertrophic cardiomyopathy 3 | 4 | Nov 28, 2024 |
| Hypertrophic cardiomyopathy 4 | 21 | Nov 28, 2024 |
| Hypertrophic cardiomyopathy 6 | 1 | Nov 28, 2024 |
| Hypertrophic cardiomyopathy 7 | 3 | Nov 28, 2024 |
| Hypertrophic cardiomyopathy 8 | 1 | Nov 28, 2024 |
| Hypertrophic cardiomyopathy 9 | 39 | Nov 28, 2024 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 2 | Dec 31, 2024 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 2 | Nov 28, 2024 |
| Hyperuricemic nephropathy, familial juvenile type 4 | 1 | Nov 28, 2024 |
| Hypochondroplasia | 5 | Nov 28, 2024 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 2 | Nov 28, 2024 |
| Hypogonadotropic hypogonadism 13 with or without anosmia | 1 | Nov 28, 2024 |
| Hypogonadotropic hypogonadism 16 with or without anosmia | 1 | Nov 28, 2024 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 2 | Nov 28, 2024 |
| Hypogonadotropic hypogonadism 26 with or without anosmia | 2 | Nov 28, 2024 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 2 | Nov 28, 2024 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 6 | Nov 28, 2024 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 1 | Nov 28, 2024 |
| Hypohidrotic X-linked ectodermal dysplasia | 3 | Nov 28, 2024 |
| Hypokalemic periodic paralysis, type 1 | 1 | Nov 28, 2024 |
| Hypokalemic periodic paralysis, type 2 | 7 | Nov 28, 2024 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 1 | Nov 28, 2024 |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 | Dec 31, 2024 |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 1 | Nov 28, 2024 |
| Hypospadias 1, X-linked | 2 | Nov 28, 2024 |
| Hypospadias 2, X-linked | 1 | Nov 28, 2024 |
| Hypothyroidism due to TSH receptor mutations | 2 | Nov 28, 2024 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Nov 28, 2024 |
| Hypotrichosis 7 | 2 | Nov 28, 2024 |
| IMAGe syndrome | 1 | Nov 28, 2024 |
| Ichthyosis vulgaris | 21 | Dec 31, 2024 |
| Ichthyosis, congenital, autosomal recessive 13 | 1 | Nov 28, 2024 |
| Ichthyosis, hystrix-like, with hearing loss | 4 | Nov 28, 2024 |
| Immunodeficiency 14 | 1 | Nov 28, 2024 |
| Immunodeficiency 23 | 2 | Nov 28, 2024 |
| Immunodeficiency 36 | 1 | Nov 28, 2024 |
| Immunodeficiency 49 | 1 | Nov 28, 2024 |
| Immunodeficiency 67 | 1 | Nov 28, 2024 |
| Inclusion body myopathy and brain white matter abnormalities | 1 | Nov 28, 2024 |
| Incontinentia pigmenti syndrome | 1 | Nov 28, 2024 |
| Infantile convulsions and choreoathetosis | 5 | Nov 28, 2024 |
| Infantile cortical hyperostosis | 10 | Nov 28, 2024 |
| Infantile hypophosphatasia | 6 | Nov 28, 2024 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 1 | Nov 28, 2024 |
| Infantile nephronophthisis | 1 | Nov 28, 2024 |
| Infantile neuroaxonal dystrophy | 4 | Nov 28, 2024 |
| Infantile onset spinocerebellar ataxia | 1 | Nov 28, 2024 |
| Inherited Creutzfeldt-Jakob disease | 2 | Nov 28, 2024 |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 2 | Nov 28, 2024 |
| Intellectual developmental disorder 60 with seizures | 1 | Nov 28, 2024 |
| Intellectual developmental disorder 61 | 2 | Nov 28, 2024 |
| Intellectual developmental disorder 62 | 2 | Dec 31, 2024 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Nov 28, 2024 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Nov 28, 2024 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Nov 28, 2024 |
| Intellectual developmental disorder with seizures and language delay | 2 | Nov 28, 2024 |
| Intellectual developmental disorder with speech delay and axonal peripheral neuropathy | 1 | Nov 28, 2024 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Nov 28, 2024 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 1 | Nov 28, 2024 |
| Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | 1 | Nov 28, 2024 |
| Intellectual developmental disorder, X-linked, syndromic, Pilorge type | 1 | Nov 28, 2024 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 5 | Dec 31, 2024 |
| Intellectual developmental disorder, autosomal dominant 64 | 1 | Nov 28, 2024 |
| Intellectual developmental disorder, autosomal dominant 66 | 1 | Nov 28, 2024 |
| Intellectual developmental disorder, autosomal dominant 68 | 3 | Nov 28, 2024 |
| Intellectual developmental disorder, autosomal recessive 71 | 2 | Nov 28, 2024 |
| Intellectual disability, X-linked 1 | 1 | Nov 28, 2024 |
| Intellectual disability, X-linked 102 | 4 | Nov 28, 2024 |
| Intellectual disability, X-linked 103 | 1 | Nov 28, 2024 |
| Intellectual disability, X-linked 106 | 1 | Nov 28, 2024 |
| Intellectual disability, X-linked 19 | 2 | Nov 28, 2024 |
| Intellectual disability, X-linked 21 | 1 | Nov 28, 2024 |
| Intellectual disability, X-linked 41 | 1 | Nov 28, 2024 |
| Intellectual disability, X-linked 63 | 3 | Nov 28, 2024 |
| Intellectual disability, X-linked 72 | 2 | Nov 28, 2024 |
| Intellectual disability, X-linked 99 | 1 | Nov 28, 2024 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Nov 28, 2024 |
| Intellectual disability, X-linked, syndromic, 35 | 1 | Nov 28, 2024 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Nov 28, 2024 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 2 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 13 | 2 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 14 | 5 | Dec 31, 2024 |
| Intellectual disability, autosomal dominant 15 | 1 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 20 | 1 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 24 | 1 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 27 | 1 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 29 | 1 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 39 | 2 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 41 | 1 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 43 | 3 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 45 | 2 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 46 | 2 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 5 | 4 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 50 | 1 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 51 | 2 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 52 | 5 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 54 | 1 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 55, with seizures | 1 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 56 | 4 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 57 | 2 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 6 | 1 | Nov 28, 2024 |
| Intellectual disability, autosomal dominant 8 | 1 | Nov 28, 2024 |
| Intellectual disability, autosomal recessive 18 | 1 | Nov 28, 2024 |
| Intellectual disability, autosomal recessive 66 | 1 | Dec 31, 2024 |
| Intellectual disability, autosomal recessive 7 | 1 | Nov 28, 2024 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 3 | Dec 31, 2024 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 1 | Nov 28, 2024 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 3 | Nov 28, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 4 | Nov 28, 2024 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 3 | Dec 31, 2024 |
| Interstitial lung disease 2 | 1 | Nov 28, 2024 |
| Intervertebral disc disorder | 4 | Nov 28, 2024 |
| Intestinal hypomagnesemia 1 | 1 | Dec 31, 2024 |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 3 | Nov 28, 2024 |
| Iodotyrosyl coupling defect | 2 | Nov 28, 2024 |
| Irido-corneo-trabecular dysgenesis | 2 | Nov 28, 2024 |
| Islet cell adenomatosis | 1 | Dec 31, 2024 |
| Isolated congenital digital clubbing | 1 | Dec 31, 2024 |
| Isolated cryptophthalmia | 1 | Nov 28, 2024 |
| Isolated focal cortical dysplasia type II | 14 | Nov 28, 2024 |
| Isolated optic nerve hypoplasia | 2 | Nov 28, 2024 |
| Isovaleryl-CoA dehydrogenase deficiency | 5 | Nov 28, 2024 |
| Jackson-Weiss syndrome | 4 | Nov 28, 2024 |
| Jervell and Lange-Nielsen syndrome 1 | 7 | Nov 28, 2024 |
| Johanson-Blizzard syndrome | 1 | Nov 28, 2024 |
| Joubert syndrome 10 | 2 | Nov 28, 2024 |
| Joubert syndrome 17 | 2 | Nov 28, 2024 |
| Joubert syndrome 2 | 1 | Nov 28, 2024 |
| Joubert syndrome 21 | 3 | Nov 28, 2024 |
| Joubert syndrome 24 | 2 | Nov 28, 2024 |
| Joubert syndrome 27 | 1 | Nov 28, 2024 |
| Joubert syndrome 3 | 1 | Nov 28, 2024 |
| Joubert syndrome 30 | 1 | Nov 28, 2024 |
| Joubert syndrome 5 | 8 | Dec 31, 2024 |
| Joubert syndrome 6 | 1 | Nov 28, 2024 |
| Joubert syndrome 9 | 13 | Nov 28, 2024 |
| Joubert syndrome with renal defect | 1 | Nov 28, 2024 |
| Juvenile myelomonocytic leukemia | 48 | Nov 28, 2024 |
| Juvenile nephropathic cystinosis | 1 | Nov 28, 2024 |
| Juvenile polyposis syndrome | 2 | Nov 28, 2024 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 | Nov 28, 2024 |
| Juvenile retinoschisis | 1 | Nov 28, 2024 |
| KBG syndrome | 5 | Nov 28, 2024 |
| Kabuki syndrome 1 | 5 | Nov 28, 2024 |
| Kabuki syndrome 2 | 2 | Nov 28, 2024 |
| Kartagener syndrome | 2 | Nov 28, 2024 |
| Kennedy disease | 2 | Nov 28, 2024 |
| Keratosis palmoplantaris striata 2 | 6 | Nov 28, 2024 |
| Kilquist syndrome | 1 | Nov 28, 2024 |
| Kindler syndrome | 2 | Nov 28, 2024 |
| King Denborough syndrome | 9 | Dec 31, 2024 |
| Kleefstra syndrome 2 | 2 | Nov 28, 2024 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 4 | Nov 28, 2024 |
| Kniest dysplasia | 11 | Nov 28, 2024 |
| Knobloch syndrome 1 | 2 | Nov 28, 2024 |
| Knuckle pads, deafness AND leukonychia syndrome | 4 | Nov 28, 2024 |
| Koolen-de Vries syndrome | 3 | Nov 28, 2024 |
| Kury-Isidor syndrome | 2 | Nov 28, 2024 |
| LADD syndrome 1 | 5 | Nov 28, 2024 |
| LEOPARD syndrome 1 | 10 | Nov 28, 2024 |
| LEOPARD syndrome 2 | 1 | Nov 28, 2024 |
| LEOPARD syndrome 3 | 1 | Nov 28, 2024 |
| LZTR1-related schwannomatosis | 8 | Nov 28, 2024 |
| Lacrimoauriculodentodigital syndrome 2 | 1 | Nov 28, 2024 |
| Lamb-Shaffer syndrome | 3 | Dec 31, 2024 |
| Landau-Kleffner syndrome | 2 | Nov 28, 2024 |
| Langer mesomelic dysplasia syndrome | 1 | Nov 28, 2024 |
| Large congenital melanocytic nevus | 4 | Nov 28, 2024 |
| Laron-type isolated somatotropin defect | 3 | Nov 28, 2024 |
| Larsen syndrome | 3 | Nov 28, 2024 |
| Laryngo-onycho-cutaneous syndrome | 2 | Nov 28, 2024 |
| Lateral meningocele syndrome | 5 | Nov 28, 2024 |
| Lattice corneal dystrophy Type I | 2 | Nov 28, 2024 |
| Laurin-Sandrow syndrome | 1 | Nov 28, 2024 |
| Leber congenital amaurosis 1 | 4 | Nov 28, 2024 |
| Leber congenital amaurosis 10 | 4 | Dec 31, 2024 |
| Leber congenital amaurosis 11 | 1 | Nov 28, 2024 |
| Leber congenital amaurosis 13 | 2 | Nov 28, 2024 |
| Leber congenital amaurosis 15 | 4 | Nov 28, 2024 |
| Leber congenital amaurosis 2 | 2 | Nov 28, 2024 |
| Leber congenital amaurosis 8 | 3 | Nov 28, 2024 |
| Leber congenital amaurosis with early-onset deafness | 1 | Nov 28, 2024 |
| Left ventricular noncompaction 10 | 6 | Nov 28, 2024 |
| Legg-Calve-Perthes disease | 10 | Nov 28, 2024 |
| Legius syndrome | 2 | Nov 28, 2024 |
| Leprechaunism syndrome | 2 | Nov 28, 2024 |
| Leri-Weill dyschondrosteosis | 1 | Nov 28, 2024 |
| Lesch-Nyhan syndrome | 1 | Nov 28, 2024 |
| Lethal Kniest-like syndrome | 1 | Nov 28, 2024 |
| Lethal acantholytic epidermolysis bullosa | 6 | Nov 28, 2024 |
| Lethal congenital contracture syndrome 11 | 2 | Nov 28, 2024 |
| Lethal congenital glycogen storage disease of heart | 1 | Nov 28, 2024 |
| Leucine-induced hypoglycemia | 1 | Nov 28, 2024 |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 1 | Nov 28, 2024 |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 1 | Nov 28, 2024 |
| Leukoencephalopathy with vanishing white matter 1 | 1 | Nov 28, 2024 |
| Leukoencephalopathy with vanishing white matter 2 | 1 | Nov 28, 2024 |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | 1 | Nov 28, 2024 |
| Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 2 | Nov 28, 2024 |
| Leukoencephalopathy, progressive, with ovarian failure | 2 | Nov 28, 2024 |
| Lewy body dementia | 5 | Dec 31, 2024 |
| Li-Fraumeni syndrome 1 | 3 | Dec 31, 2024 |
| Li-Fraumeni syndrome 2 | 4 | Nov 28, 2024 |
| Li-Ghorbani-Weisz-Hubshman syndrome | 1 | Nov 28, 2024 |
| Liang-Wang syndrome | 1 | Nov 28, 2024 |
| Linear nevus sebaceous syndrome | 5 | Nov 28, 2024 |
| Lipase deficiency, combined | 1 | Nov 28, 2024 |
| Lissencephaly due to LIS1 mutation | 1 | Nov 28, 2024 |
| Lissencephaly due to TUBA1A mutation | 3 | Dec 31, 2024 |
| Lissencephaly type 1 due to doublecortin gene mutation | 4 | Nov 28, 2024 |
| Loeys-Dietz syndrome 1 | 1 | Nov 28, 2024 |
| Loeys-Dietz syndrome 2 | 3 | Nov 28, 2024 |
| Long QT syndrome 1 | 10 | Dec 31, 2024 |
| Long QT syndrome 13 | 1 | Nov 28, 2024 |
| Long QT syndrome 2 | 7 | Nov 28, 2024 |
| Long QT syndrome 3 | 12 | Nov 28, 2024 |
| Long qt syndrome 8 | 3 | Dec 31, 2024 |
| Low phospholipid associated cholelithiasis | 1 | Nov 28, 2024 |
| Lowe syndrome | 1 | Nov 28, 2024 |
| Lucey-Driscoll syndrome | 8 | Dec 31, 2024 |
| Lung cancer | 3 | Nov 28, 2024 |
| Lymphangiomyomatosis | 14 | Nov 28, 2024 |
| Lymphatic malformation 7 | 5 | Nov 28, 2024 |
| Lynch syndrome 1 | 3 | Nov 28, 2024 |
| Lynch syndrome 4 | 4 | Nov 28, 2024 |
| Lynch syndrome 5 | 6 | Dec 31, 2024 |
| Lynch syndrome 8 | 1 | Nov 28, 2024 |
| MASA syndrome | 5 | Nov 28, 2024 |
| MASS syndrome | 12 | Nov 28, 2024 |
| MEGF8-related Carpenter syndrome | 1 | Nov 28, 2024 |
| MELANESIAN BLOND HAIR | 1 | Nov 28, 2024 |
| MEND syndrome | 1 | Nov 28, 2024 |
| METHEMOGLOBINEMIA, BETA TYPE | 1 | Nov 28, 2024 |
| MIRAGE syndrome | 1 | Nov 28, 2024 |
| MPDU1-congenital disorder of glycosylation | 1 | Nov 28, 2024 |
| MYH7-related skeletal myopathy | 6 | Dec 31, 2024 |
| Macrocephaly-autism syndrome | 4 | Nov 28, 2024 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 | Nov 28, 2024 |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 | Nov 28, 2024 |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 1 | Nov 28, 2024 |
| Macular corneal dystrophy | 1 | Nov 28, 2024 |
| Macular degeneration, X-linked atrophic | 2 | Nov 28, 2024 |
| Macular degeneration, early-onset | 1 | Nov 28, 2024 |
| Malan overgrowth syndrome | 2 | Nov 28, 2024 |
| Malaria, susceptibility to | 12 | Dec 31, 2024 |
| Malignant hyperthermia, susceptibility to, 1 | 13 | Dec 31, 2024 |
| Malignant hyperthermia, susceptibility to, 5 | 1 | Nov 28, 2024 |
| Malignant tumor of esophagus | 1 | Nov 28, 2024 |
| Malignant tumor of urinary bladder | 9 | Nov 28, 2024 |
| Mandibuloacral dysplasia with type A lipodystrophy | 2 | Nov 28, 2024 |
| Mandibuloacral dysplasia with type B lipodystrophy | 2 | Nov 28, 2024 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | Nov 28, 2024 |
| Maple syrup urine disease type 1A | 1 | Dec 31, 2024 |
| Marfan syndrome | 34 | Dec 31, 2024 |
| Marshall syndrome | 2 | Nov 28, 2024 |
| Marshall-Smith syndrome | 1 | Nov 28, 2024 |
| Maturity-onset diabetes of the young type 1 | 1 | Nov 28, 2024 |
| Maturity-onset diabetes of the young type 11 | 3 | Nov 28, 2024 |
| Maturity-onset diabetes of the young type 2 | 5 | Nov 28, 2024 |
| Maturity-onset diabetes of the young type 3 | 2 | Nov 28, 2024 |
| Maturity-onset diabetes of the young type 4 | 1 | Nov 28, 2024 |
| Maturity-onset diabetes of the young type 8 | 1 | Nov 28, 2024 |
| Meacham syndrome | 1 | Nov 28, 2024 |
| Meckel syndrome, type 2 | 1 | Nov 28, 2024 |
| Meckel syndrome, type 3 | 1 | Nov 28, 2024 |
| Meckel syndrome, type 4 | 4 | Dec 31, 2024 |
| Meckel syndrome, type 6 | 13 | Nov 28, 2024 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Nov 28, 2024 |
| Medulloblastoma | 29 | Dec 31, 2024 |
| Megabladder, congenital | 1 | Nov 28, 2024 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 1 | Nov 28, 2024 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 1 | Nov 28, 2024 |
| Meier-Gorlin syndrome 6 | 1 | Nov 28, 2024 |
| Melanoma, cutaneous malignant, susceptibility to, 1 | 2 | Nov 28, 2024 |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 2 | Nov 28, 2024 |
| Melanoma, uveal, susceptibility to, 2 | 2 | Nov 28, 2024 |
| Melnick-Needles syndrome | 3 | Nov 28, 2024 |
| Menke-Hennekam syndrome 1 | 3 | Nov 28, 2024 |
| Menkes kinky-hair syndrome | 2 | Nov 28, 2024 |
| Merosin deficient congenital muscular dystrophy | 4 | Nov 28, 2024 |
| Mesothelioma, malignant | 1 | Nov 28, 2024 |
| Metachondromatosis | 5 | Nov 28, 2024 |
| Metaphyseal chondrodysplasia, Schmid type | 4 | Nov 28, 2024 |
| Metaphyseal chondrodysplasia, Spahr type | 1 | Nov 28, 2024 |
| Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | 1 | Nov 28, 2024 |
| Metatropic dysplasia | 1 | Nov 28, 2024 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 8 | Dec 31, 2024 |
| Methylmalonic aciduria, cblB type | 1 | Nov 28, 2024 |
| Mevalonic aciduria | 1 | Nov 28, 2024 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 1 | Nov 28, 2024 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 1 | Dec 31, 2024 |
| Microcephaly 1, primary, autosomal recessive | 1 | Nov 28, 2024 |
| Microcephaly 5, primary, autosomal recessive | 8 | Nov 28, 2024 |
| Microcephaly 9, primary, autosomal recessive | 1 | Nov 28, 2024 |
| Microcephaly and chorioretinopathy 1 | 1 | Nov 28, 2024 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 3 | Nov 28, 2024 |
| Microcephaly, growth restriction, and increased sister chromatid exchange 2 | 1 | Nov 28, 2024 |
| Microcephaly, normal intelligence and immunodeficiency | 2 | Nov 28, 2024 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 1 | Dec 31, 2024 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 5 | Dec 31, 2024 |
| Microphthalmia, syndromic 1 | 2 | Nov 28, 2024 |
| Migraine, familial hemiplegic, 1 | 4 | Nov 28, 2024 |
| Migraine, familial hemiplegic, 2 | 2 | Nov 28, 2024 |
| Migraine, familial hemiplegic, 3 | 13 | Dec 31, 2024 |
| Mismatch repair cancer syndrome 1 | 2 | Nov 28, 2024 |
| Mismatch repair cancer syndrome 2 | 2 | Nov 28, 2024 |
| Mismatch repair cancer syndrome 3 | 5 | Dec 31, 2024 |
| Mismatch repair cancer syndrome 4 | 1 | Nov 28, 2024 |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | 1 | Nov 28, 2024 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 4 | Nov 28, 2024 |
| Mitochondrial DNA depletion syndrome 4b | 2 | Nov 28, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 2 | Nov 28, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 29 | 1 | Nov 28, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 1 | Dec 31, 2024 |
| Mitochondrial complex 2 deficiency, nuclear type 3 | 1 | Nov 28, 2024 |
| Mitochondrial complex 2 deficiency, nuclear type 4 | 1 | Dec 31, 2024 |
| Mitochondrial complex 4 deficiency, nuclear type 11 | 1 | Nov 28, 2024 |
| Mitochondrial complex III deficiency nuclear type 1 | 1 | Nov 28, 2024 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 2 | Nov 28, 2024 |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 1 | Nov 28, 2024 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 3 | Nov 28, 2024 |
| Miyoshi muscular dystrophy 1 | 2 | Nov 28, 2024 |
| Miyoshi muscular dystrophy 3 | 1 | Nov 28, 2024 |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 1 | Nov 28, 2024 |
| Monosomy 7 myelodysplasia and leukemia syndrome 2 | 1 | Nov 28, 2024 |
| Mosaic variegated aneuploidy syndrome 3 | 1 | Nov 28, 2024 |
| Mowat-Wilson syndrome | 2 | Nov 28, 2024 |
| Moyamoya disease 5 | 2 | Nov 28, 2024 |
| Mucolipidosis type II | 2 | Nov 28, 2024 |
| Mucopolysaccharidosis, MPS-I-H/S | 3 | Nov 28, 2024 |
| Mucopolysaccharidosis, MPS-I-S | 3 | Nov 28, 2024 |
| Mucopolysaccharidosis, MPS-II | 2 | Nov 28, 2024 |
| Mucopolysaccharidosis, MPS-III-A | 1 | Nov 28, 2024 |
| Mucopolysaccharidosis, MPS-III-B | 3 | Nov 28, 2024 |
| Mucopolysaccharidosis, MPS-III-C | 2 | Nov 28, 2024 |
| Mucopolysaccharidosis, MPS-IV-A | 2 | Nov 28, 2024 |
| Muenke syndrome | 3 | Nov 28, 2024 |
| Muir-Torré syndrome | 4 | Nov 28, 2024 |
| Multicentric osteolysis, nodulosis, and arthropathy | 1 | Nov 28, 2024 |
| Multiple acyl-CoA dehydrogenase deficiency | 5 | Dec 31, 2024 |
| Multiple benign circumferential skin creases on limbs 1 | 1 | Nov 28, 2024 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Nov 28, 2024 |
| Multiple endocrine neoplasia type 2A | 2 | Nov 28, 2024 |
| Multiple endocrine neoplasia type 2B | 3 | Nov 28, 2024 |
| Multiple endocrine neoplasia type 4 | 1 | Nov 28, 2024 |
| Multiple endocrine neoplasia, type 1 | 2 | Nov 28, 2024 |
| Multiple epiphyseal dysplasia type 1 | 2 | Nov 28, 2024 |
| Multiple epiphyseal dysplasia type 4 | 3 | Nov 28, 2024 |
| Multiple epiphyseal dysplasia, Beighton type | 10 | Nov 28, 2024 |
| Multiple mitochondrial dysfunctions syndrome 3 | 3 | Nov 28, 2024 |
| Multiple self-healing squamous epithelioma | 1 | Nov 28, 2024 |
| Multiple synostoses syndrome 2 | 2 | Nov 28, 2024 |
| Multisystemic smooth muscle dysfunction syndrome | 2 | Nov 28, 2024 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 | Nov 28, 2024 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 | Nov 28, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2 | Nov 28, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 2 | Nov 28, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 2 | Nov 28, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 1 | Nov 28, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 | Nov 27, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2 | Nov 28, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 2 | Nov 28, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2 | Nov 28, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 1 | Dec 31, 2024 |
| Muscular dystrophy-dystroglycanopathy type B5 | 1 | Nov 28, 2024 |
| Mutilating keratoderma | 4 | Nov 28, 2024 |
| Myasthenic syndrome, congenital, 22 | 1 | Nov 28, 2024 |
| Myhre syndrome | 2 | Nov 28, 2024 |
| Myocardial infarction, susceptibility to | 3 | Nov 28, 2024 |
| Myoclonic dystonia 11 | 1 | Nov 28, 2024 |
| Myoclonic-atonic epilepsy | 2 | Nov 28, 2024 |
| Myoclonus, familial, 2 | 1 | Nov 28, 2024 |
| Myofibrillar myopathy 4 | 1 | Nov 28, 2024 |
| Myofibrillar myopathy 5 | 6 | Nov 28, 2024 |
| Myofibromatosis, infantile, 2 | 5 | Nov 28, 2024 |
| Myopathy with abnormal lipid metabolism | 1 | Nov 28, 2024 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 40 | Nov 28, 2024 |
| Myopathy, myosin storage, autosomal recessive | 6 | Dec 31, 2024 |
| Myopia, high, with cataract and vitreoretinal degeneration | 1 | Nov 28, 2024 |
| Myosin storage myopathy | 6 | Dec 31, 2024 |
| NEK9-related lethal skeletal dysplasia | 1 | Nov 28, 2024 |
| NPHP3-related Meckel-like syndrome | 3 | Nov 28, 2024 |
| Nager syndrome | 1 | Nov 28, 2024 |
| Nail-patella syndrome | 2 | Nov 28, 2024 |
| Nail-patella-like renal disease | 1 | Nov 28, 2024 |
| Namaqualand hip dysplasia | 10 | Nov 28, 2024 |
| Nance-Horan syndrome | 1 | Nov 28, 2024 |
| Nasopharyngeal carcinoma | 1 | Nov 28, 2024 |
| Nemaline myopathy 2 | 5 | Dec 31, 2024 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 3 | Nov 28, 2024 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 1 | Nov 28, 2024 |
| Neonatal severe primary hyperparathyroidism | 2 | Nov 28, 2024 |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 | Nov 28, 2024 |
| Nephrogenic syndrome of inappropriate antidiuresis | 2 | Nov 28, 2024 |
| Nephronophthisis 1 | 1 | Nov 28, 2024 |
| Nephronophthisis 11 | 1 | Nov 28, 2024 |
| Nephronophthisis 12 | 2 | Nov 28, 2024 |
| Nephronophthisis 13 | 2 | Nov 28, 2024 |
| Nephronophthisis 19 | 1 | Nov 28, 2024 |
| Nephronophthisis 20 | 1 | Nov 28, 2024 |
| Nephronophthisis 3 | 3 | Nov 28, 2024 |
| Nephronophthisis 9 | 3 | Nov 28, 2024 |
| Nephropathic cystinosis | 1 | Nov 28, 2024 |
| Nephrotic syndrome, type 2 | 2 | Nov 28, 2024 |
| Nephrotic syndrome, type 4 | 1 | Nov 28, 2024 |
| Nephrotic syndrome, type 9 | 2 | Nov 28, 2024 |
| Netherton syndrome | 3 | Nov 28, 2024 |
| Neural tube defects, folate-sensitive | 3 | Nov 28, 2024 |
| Neural tube defects, susceptibility to | 1 | Nov 28, 2024 |
| Neuroblastoma, susceptibility to, 2 | 1 | Nov 28, 2024 |
| Neurodegeneration with brain iron accumulation 2B | 4 | Nov 28, 2024 |
| Neurodegeneration with brain iron accumulation 5 | 3 | Nov 28, 2024 |
| Neurodegeneration with brain iron accumulation 8 | 2 | Nov 28, 2024 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 1 | Nov 28, 2024 |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 2 | Nov 28, 2024 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | Nov 28, 2024 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 3 | Nov 28, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Nov 28, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 1 | Nov 28, 2024 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 2 | Nov 28, 2024 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 2 | Dec 31, 2024 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 1 | Dec 31, 2024 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 2 | Nov 28, 2024 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 2 | Nov 28, 2024 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2 | Nov 28, 2024 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 1 | Nov 28, 2024 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 2 | Nov 28, 2024 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 2 | Nov 28, 2024 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Nov 28, 2024 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 2 | Nov 28, 2024 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 1 | Nov 28, 2024 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 1 | Nov 28, 2024 |
| Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 1 | Nov 28, 2024 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 1 | Nov 28, 2024 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 1 | Nov 28, 2024 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 1 | Nov 28, 2024 |
| Neurofibromatosis, familial spinal | 43 | Nov 28, 2024 |
| Neurofibromatosis, type 1 | 142 | Dec 31, 2024 |
| Neurofibromatosis, type 2 | 7 | Nov 28, 2024 |
| Neurofibromatosis-Noonan syndrome | 43 | Nov 28, 2024 |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 2 | Nov 28, 2024 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 1 | Nov 28, 2024 |
| Neuronal ceroid lipofuscinosis 1 | 2 | Nov 28, 2024 |
| Neuronal ceroid lipofuscinosis 10 | 1 | Nov 28, 2024 |
| Neuronal ceroid lipofuscinosis 2 | 1 | Nov 28, 2024 |
| Neuronal ceroid lipofuscinosis 8 | 1 | Nov 28, 2024 |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 1 | Nov 28, 2024 |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 | Nov 28, 2024 |
| Neuronopathy, distal hereditary motor, autosomal recessive 10 | 1 | Nov 28, 2024 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 1 | Nov 28, 2024 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 1 | Nov 28, 2024 |
| Neuronopathy, distal hereditary motor, type 2B | 1 | Nov 28, 2024 |
| Neuronopathy, distal hereditary motor, type 5C | 1 | Nov 28, 2024 |
| Neuroocular syndrome 1 | 1 | Nov 28, 2024 |
| Neuropathy, hereditary motor and sensory, type 6B | 2 | Nov 28, 2024 |
| Neuropathy, hereditary sensory, type 1D | 1 | Nov 28, 2024 |
| Neutral lipid storage myopathy | 2 | Nov 28, 2024 |
| Neutropenia, severe congenital, 9, autosomal dominant | 1 | Nov 28, 2024 |
| Niemann-Pick disease, type A | 1 | Nov 28, 2024 |
| Niemann-Pick disease, type B | 1 | Nov 28, 2024 |
| Niemann-Pick disease, type C1 | 2 | Nov 28, 2024 |
| Night blindness, congenital stationary, type1i | 3 | Nov 28, 2024 |
| Nijmegen breakage syndrome-like disorder | 1 | Nov 28, 2024 |
| Nonpapillary renal cell carcinoma | 4 | Nov 28, 2024 |
| Nonsyndromic congenital nail disorder 8 | 2 | Nov 28, 2024 |
| Noonan syndrome 1 | 17 | Nov 28, 2024 |
| Noonan syndrome 10 | 6 | Nov 28, 2024 |
| Noonan syndrome 11 | 1 | Nov 28, 2024 |
| Noonan syndrome 2 | 9 | Nov 28, 2024 |
| Noonan syndrome 3 | 1 | Nov 28, 2024 |
| Noonan syndrome 4 | 2 | Nov 28, 2024 |
| Noonan syndrome 5 | 2 | Nov 28, 2024 |
| Noonan syndrome 6 | 1 | Nov 28, 2024 |
| Noonan syndrome 7 | 1 | Nov 28, 2024 |
| Noonan syndrome 8 | 2 | Nov 28, 2024 |
| Norman-Roberts syndrome | 1 | Nov 28, 2024 |
| Normophosphatemic familial tumoral calcinosis | 1 | Nov 28, 2024 |
| O'Donnell-Luria-Rodan syndrome | 1 | Nov 28, 2024 |
| Occult macular dystrophy | 2 | Dec 31, 2024 |
| Ocular cystinosis | 1 | Nov 28, 2024 |
| Oculocerebrofacial syndrome, Kaufman type | 1 | Nov 28, 2024 |
| Oculocutaneous albinism type 1B | 17 | Dec 31, 2024 |
| Oculocutaneous albinism type 3 | 1 | Nov 28, 2024 |
| Oculocutaneous albinism type 4 | 5 | Nov 28, 2024 |
| Oculofaciocardiodental syndrome | 1 | Nov 28, 2024 |
| Oculootoradial syndrome | 1 | Nov 28, 2024 |
| Oculopharyngeal muscular dystrophy 1 | 1 | Nov 28, 2024 |
| Oculotrichoanal syndrome | 1 | Nov 28, 2024 |
| Ogden syndrome | 2 | Nov 28, 2024 |
| Oguchi disease-1 | 1 | Nov 28, 2024 |
| Okur-Chung neurodevelopmental syndrome | 1 | Nov 28, 2024 |
| Oocyte maturation defect 2 | 9 | Nov 28, 2024 |
| Oocyte maturation defect 4 | 5 | Nov 28, 2024 |
| Oocyte maturation defect 6 | 2 | Nov 28, 2024 |
| Oocyte maturation defect 7 | 1 | Nov 28, 2024 |
| Oocyte maturation defect 9 | 1 | Nov 28, 2024 |
| Oocyte/zygote/embryo maturation arrest 17 | 1 | Nov 28, 2024 |
| Oocyte/zygote/embryo maturation arrest 20 | 2 | Dec 31, 2024 |
| Optic atrophy 12 | 1 | Nov 28, 2024 |
| Optic atrophy 3 | 2 | Nov 28, 2024 |
| Ornithine carbamoyltransferase deficiency | 3 | Dec 31, 2024 |
| Orofacial cleft 6, susceptibility to | 3 | Nov 28, 2024 |
| Orofaciodigital syndrome I | 2 | Nov 28, 2024 |
| Orofaciodigital syndrome type 6 | 2 | Nov 28, 2024 |
| Osteoarthritis susceptibility 5 | 2 | Nov 28, 2024 |
| Osteogenesis imperfecta type 5 | 1 | Nov 28, 2024 |
| Osteogenesis imperfecta type 6 | 1 | Nov 28, 2024 |
| Osteogenesis imperfecta type 7 | 1 | Nov 28, 2024 |
| Osteogenesis imperfecta type 8 | 2 | Nov 28, 2024 |
| Osteogenesis imperfecta type I | 13 | Nov 28, 2024 |
| Osteogenesis imperfecta type III | 20 | Nov 28, 2024 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 18 | Nov 28, 2024 |
| Osteogenesis imperfecta, perinatal lethal | 19 | Nov 28, 2024 |
| Osteoglophonic dysplasia | 1 | Nov 28, 2024 |
| Osteoporosis | 13 | Nov 28, 2024 |
| Osteoporosis with pseudoglioma | 1 | Dec 31, 2024 |
| Oto-palato-digital syndrome, type I | 3 | Nov 28, 2024 |
| Oto-palato-digital syndrome, type II | 3 | Nov 28, 2024 |
| Otofaciocervical syndrome 1 | 2 | Nov 28, 2024 |
| Ovarian cancer | 2 | Nov 28, 2024 |
| Ovarian dysgenesis 1 | 4 | Nov 28, 2024 |
| Ovarian dysgenesis 5 | 2 | Nov 28, 2024 |
| Ovarian dysgenesis 8 | 2 | Nov 28, 2024 |
| Ovarian hyperstimulation syndrome | 2 | Nov 28, 2024 |
| PCWH syndrome | 1 | Nov 28, 2024 |
| PGM1-congenital disorder of glycosylation | 1 | Nov 27, 2024 |
| PHGDH deficiency | 1 | Nov 28, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2 | Nov 28, 2024 |
| PMM2-congenital disorder of glycosylation | 1 | Nov 28, 2024 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Nov 28, 2024 |
| Pachyonychia congenita 2 | 1 | Nov 28, 2024 |
| Pallister-Hall syndrome | 3 | Dec 31, 2024 |
| Palmoplantar keratoderma, Nagashima type | 2 | Nov 28, 2024 |
| Palmoplantar keratoderma-deafness syndrome | 4 | Nov 28, 2024 |
| Pancreatic agenesis 1 | 1 | Nov 28, 2024 |
| Pancreatic cancer, susceptibility to, 2 | 28 | Dec 31, 2024 |
| Pancreatic cancer, susceptibility to, 3 | 11 | Dec 31, 2024 |
| Pancreatic cancer, susceptibility to, 4 | 11 | Dec 31, 2024 |
| Paragangliomas 1 | 1 | Nov 28, 2024 |
| Paragangliomas 3 | 2 | Dec 31, 2024 |
| Paragangliomas 4 | 4 | Dec 31, 2024 |
| Paragangliomas 5 | 3 | Nov 28, 2024 |
| Paramyotonia congenita of Von Eulenburg | 5 | Nov 28, 2024 |
| Parastremmatic dwarfism | 1 | Nov 28, 2024 |
| Parathyroid carcinoma | 1 | Nov 28, 2024 |
| Parenti-mignot neurodevelopmental syndrome | 1 | Nov 28, 2024 |
| Parkinson disease, late-onset | 6 | Dec 31, 2024 |
| Paroxysmal extreme pain disorder | 1 | Nov 28, 2024 |
| Partial androgen insensitivity syndrome | 2 | Nov 28, 2024 |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 1 | Nov 28, 2024 |
| Partington syndrome | 2 | Nov 28, 2024 |
| Patterned macular dystrophy 1 | 1 | Dec 31, 2024 |
| Pelger-Huët anomaly | 1 | Nov 28, 2024 |
| Pelizaeus-Merzbacher disease | 1 | Nov 28, 2024 |
| Pendred syndrome | 20 | Nov 28, 2024 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 2 | Dec 31, 2024 |
| Permanent neonatal diabetes mellitus 1 | 5 | Dec 31, 2024 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Nov 28, 2024 |
| Peroxisome biogenesis disorder 1B | 1 | Nov 28, 2024 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 2 | Nov 28, 2024 |
| Peroxisome biogenesis disorder 4B | 2 | Nov 28, 2024 |
| Peroxisome biogenesis disorder 5A (Zellweger) | 1 | Nov 28, 2024 |
| Peroxisome biogenesis disorder 5B | 1 | Nov 28, 2024 |
| Peroxisome biogenesis disorder 6A (Zellweger) | 2 | Nov 28, 2024 |
| Peroxisome biogenesis disorder 6B | 2 | Nov 28, 2024 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 1 | Nov 28, 2024 |
| Peroxisome biogenesis disorder 7B | 1 | Nov 28, 2024 |
| Peroxisome biogenesis disorder 9B | 1 | Nov 28, 2024 |
| Perrault syndrome 1 | 2 | Nov 28, 2024 |
| Perrault syndrome 4 | 1 | Nov 28, 2024 |
| Perrault syndrome 5 | 1 | Nov 28, 2024 |
| Peters plus syndrome | 1 | Nov 28, 2024 |
| Peutz-Jeghers syndrome | 7 | Nov 28, 2024 |
| Pfeiffer syndrome | 5 | Nov 28, 2024 |
| Phelan-McDermid syndrome | 3 | Nov 28, 2024 |
| Phenylketonuria | 51 | Dec 31, 2024 |
| Pheochromocytoma | 7 | Nov 28, 2024 |
| Phosphate transport defect | 1 | Nov 28, 2024 |
| Pick disease | 2 | Nov 28, 2024 |
| Piebaldism | 2 | Dec 31, 2024 |
| Pierpont syndrome | 1 | Nov 28, 2024 |
| Pigmentary pallidal degeneration | 1 | Dec 31, 2024 |
| Pigmentary retinal dystrophy | 2 | Dec 31, 2024 |
| Pigmented paravenous retinochoroidal atrophy | 1 | Nov 28, 2024 |
| Pili torti-deafness syndrome | 2 | Nov 28, 2024 |
| Pilomatrixoma | 1 | Nov 28, 2024 |
| Pitt-Hopkins syndrome | 3 | Nov 28, 2024 |
| Pitt-Hopkins-like syndrome 2 | 3 | Nov 28, 2024 |
| Pituitary adenoma 5, multiple types | 3 | Nov 28, 2024 |
| Pituitary hormone deficiency, combined, 1 | 2 | Nov 28, 2024 |
| Pituitary hormone deficiency, combined, 2 | 1 | Nov 28, 2024 |
| Pituitary hormone deficiency, combined, 6 | 1 | Nov 28, 2024 |
| Platelet-type bleeding disorder 10 | 4 | Nov 28, 2024 |
| Platelet-type bleeding disorder 15 | 1 | Nov 28, 2024 |
| Platelet-type bleeding disorder 16 | 2 | Nov 28, 2024 |
| Platyspondylic dysplasia, Torrance type | 10 | Nov 28, 2024 |
| Pleuropulmonary blastoma | 1 | Nov 28, 2024 |
| Poirier-Bienvenu neurodevelopmental syndrome | 3 | Nov 28, 2024 |
| Polycystic kidney disease 2 | 30 | Nov 28, 2024 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 1 | Nov 28, 2024 |
| Polycystic kidney disease 4 | 14 | Nov 28, 2024 |
| Polycystic kidney disease, adult type | 285 | Dec 31, 2024 |
| Polycystic liver disease 1 | 4 | Nov 28, 2024 |
| Polycystic liver disease 2 | 2 | Nov 28, 2024 |
| Polycystic liver disease 4 with or without kidney cysts | 1 | Dec 31, 2024 |
| Polydactyly of a triphalangeal thumb | 1 | Nov 28, 2024 |
| Polydactyly, postaxial, type A1 | 3 | Dec 31, 2024 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 3 | Nov 28, 2024 |
| Polyposis syndrome, hereditary mixed, 2 | 1 | <
