| 11p partial monosomy syndrome | 1 | Mar 18, 2025 |
| 17p11.2 microduplication syndrome | 3 | Apr 21, 2025 |
| 2-aminoadipic 2-oxoadipic aciduria | 3 | Mar 18, 2025 |
| 22q11.2 deletion syndrome | 1 | Mar 18, 2025 |
| 3-Methylglutaconic aciduria type 2 | 1 | Mar 18, 2025 |
| 3-Methylglutaconic aciduria type 3 | 4 | Apr 21, 2025 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 3 | Mar 18, 2025 |
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | 4 | Apr 21, 2025 |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2 | Mar 18, 2025 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 3 | Apr 21, 2025 |
| 3-methylglutaconic aciduria type 1 | 3 | Apr 21, 2025 |
| 3-methylglutaconic aciduria type 8 | 1 | Apr 21, 2025 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2 | Apr 21, 2025 |
| 3M syndrome 1 | 1 | Mar 18, 2025 |
| 3M syndrome 2 | 7 | Apr 21, 2025 |
| 3M syndrome 3 | 2 | Mar 18, 2025 |
| 3MC syndrome 1 | 1 | Apr 21, 2025 |
| 46 XX gonadal dysgenesis | 3 | Mar 18, 2025 |
| 46,XX ovarian dysgenesis-short stature syndrome | 2 | Mar 18, 2025 |
| 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 1 | Mar 18, 2025 |
| 46,XY sex reversal 11 | 1 | Mar 18, 2025 |
| 46,XY sex reversal 6 | 9 | Apr 21, 2025 |
| 46,XY sex reversal 9 | 9 | Apr 21, 2025 |
| 4p partial monosomy syndrome | 1 | Mar 18, 2025 |
| 5-Oxoprolinase deficiency | 8 | Apr 21, 2025 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 | Mar 18, 2025 |
| A2M-related disorder | 1 | Mar 18, 2025 |
| ABCA4-related retinopathy | 19 | Mar 18, 2025 |
| ABCC11-related condition | 1 | Mar 18, 2025 |
| ABCD syndrome | 3 | Apr 21, 2025 |
| ABO-related disorder | 1 | Mar 18, 2025 |
| ABRAXAS1-related disorder | 1 | Mar 18, 2025 |
| ACD-related short telomere syndrome | 1 | Mar 18, 2025 |
| ACKR1-related disorder | 1 | Mar 18, 2025 |
| ACSL6-related disorder | 2 | Mar 18, 2025 |
| ACTH-independent macronodular adrenal hyperplasia 1 | 7 | Apr 21, 2025 |
| ACTH-independent macronodular adrenal hyperplasia 2 | 3 | Mar 18, 2025 |
| ADAR-related type 1 interferonopathy | 2 | Mar 18, 2025 |
| ADGRA3-related disorder | 2 | Mar 18, 2025 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Mar 18, 2025 |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 13 | Apr 21, 2025 |
| ADULT syndrome | 3 | Apr 21, 2025 |
| AGRP-related condition | 1 | Mar 18, 2025 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 3 | Mar 18, 2025 |
| AICA-ribosiduria | 1 | Mar 18, 2025 |
| AIPL1-related retinopathy | 3 | Mar 18, 2025 |
| ALDH18A1-related de Barsy syndrome | 1 | Mar 18, 2025 |
| ALDH2-related disorder | 1 | Mar 18, 2025 |
| ALG1-congenital disorder of glycosylation | 2 | Mar 18, 2025 |
| ALG12-congenital disorder of glycosylation | 1 | Mar 18, 2025 |
| ALG2-congenital disorder of glycosylation | 2 | Mar 18, 2025 |
| ALG6-congenital disorder of glycosylation 1C | 2 | Mar 18, 2025 |
| ALS2-related motor neuron disease | 6 | Mar 18, 2025 |
| ANE syndrome | 1 | Mar 18, 2025 |
| AP-4 deficiency syndrome | 6 | Mar 18, 2025 |
| APC-related attenuated familial adenomatous polyposis | 4 | Mar 18, 2025 |
| APOBEC3B-related condition | 4 | Mar 18, 2025 |
| AQP7-related condition | 1 | Mar 18, 2025 |
| ASAH1-related sphingolipidosis | 2 | Mar 18, 2025 |
| ASB14-related condition | 1 | Mar 18, 2025 |
| ATM-related cancer predisposition | 132 | Mar 18, 2025 |
| ATR-X-related syndrome | 6 | Mar 18, 2025 |
| Aarskog syndrome | 4 | Apr 21, 2025 |
| Abdominal obesity-metabolic syndrome 3 | 2 | Mar 18, 2025 |
| Abdominal obesity-metabolic syndrome 4 | 2 | Apr 21, 2025 |
| Abetalipoproteinaemia | 6 | Apr 21, 2025 |
| Abortive cerebellar ataxia | 4 | Apr 21, 2025 |
| Acetyl-CoA: carboxylase deficiency | 2 | Mar 18, 2025 |
| Acheiropodia | 4 | Apr 21, 2025 |
| Achondrogenesis, type IA | 4 | Apr 21, 2025 |
| Achondrogenesis, type IB | 6 | Apr 21, 2025 |
| Achondroplasia | 2 | Apr 21, 2025 |
| Achromatopsia 2 | 4 | Mar 18, 2025 |
| Achromatopsia 3 | 7 | Mar 18, 2025 |
| Achromatopsia 4 | 4 | Apr 21, 2025 |
| Acid sphingomyelinase deficiency | 2 | Mar 18, 2025 |
| Acne inversa, familial, 1 | 3 | Apr 21, 2025 |
| Acne inversa, familial, 3 | 2 | Apr 21, 2025 |
| Acquired hemoglobin H disease | 1 | Apr 21, 2025 |
| Acquired polycythemia vera | 5 | Apr 21, 2025 |
| Acral peeling skin syndrome | 3 | Mar 18, 2025 |
| Acrocallosal syndrome | 9 | Apr 21, 2025 |
| Acrocephalosyndactyly type I | 2 | Apr 21, 2025 |
| Acrodermatitis continua suppurativa of Hallopeau | 2 | Apr 21, 2025 |
| Acrodysostosis 2 with or without hormone resistance | 2 | Apr 21, 2025 |
| Acroerythrokeratoderma | 2 | Mar 18, 2025 |
| Acrofacial dysostosis Cincinnati type | 3 | Apr 21, 2025 |
| Acromelic frontonasal dysostosis | 6 | Apr 21, 2025 |
| Acromesomelic dysplasia 1, Maroteaux type | 4 | Apr 21, 2025 |
| Acromesomelic dysplasia 2B | 2 | Apr 21, 2025 |
| Acromesomelic dysplasia 2C, Hunter-Thompson type | 2 | Apr 21, 2025 |
| Acromesomelic dysplasia 3 | 1 | Apr 21, 2025 |
| Acromesomelic dysplasia 4 | 1 | Apr 21, 2025 |
| Acromicric dysplasia | 15 | Apr 21, 2025 |
| Acroosteolysis-keloid-like lesions-premature aging syndrome | 6 | Apr 21, 2025 |
| Acute febrile neutrophilic dermatosis | 17 | Apr 21, 2025 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 3 | Apr 21, 2025 |
| Acute intermittent porphyria | 3 | Apr 21, 2025 |
| Acute lymphoid leukemia | 12 | Apr 21, 2025 |
| Acute myeloid leukemia | 13 | Apr 21, 2025 |
| Acyl-CoA dehydrogenase 9 deficiency | 4 | Apr 21, 2025 |
| Acyl-CoA oxidase deficiency | 3 | Mar 18, 2025 |
| Adams-Oliver syndrome | 3 | Mar 18, 2025 |
| Adams-Oliver syndrome 1 | 3 | Mar 18, 2025 |
| Adams-Oliver syndrome 5 | 11 | Apr 21, 2025 |
| Adams-Oliver syndrome 6 | 1 | Mar 18, 2025 |
| Adenine phosphoribosyltransferase deficiency | 2 | Mar 18, 2025 |
| Adenosine monophosphate deaminase deficiency | 1 | Mar 18, 2025 |
| Adenylosuccinate lyase deficiency | 2 | Mar 18, 2025 |
| Adrenocortical carcinoma, hereditary | 1 | Apr 21, 2025 |
| Adult hypophosphatasia | 10 | Mar 18, 2025 |
| Adult polyglucosan body disease | 2 | Apr 21, 2025 |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 1 | Apr 21, 2025 |
| Adult-onset proximal spinal muscular atrophy, autosomal dominant | 1 | Apr 21, 2025 |
| Advanced sleep phase syndrome | 1 | Mar 18, 2025 |
| Advanced sleep phase syndrome 1 | 2 | Apr 21, 2025 |
| Advanced sleep phase syndrome 3 | 5 | Apr 21, 2025 |
| Agammaglobulinemia 2, autosomal recessive | 2 | Apr 21, 2025 |
| Agammaglobulinemia 4, autosomal recessive | 1 | Mar 18, 2025 |
| Agammaglobulinemia 5, autosomal dominant | 1 | Apr 21, 2025 |
| Agammaglobulinemia 7, autosomal recessive | 1 | Apr 21, 2025 |
| Agammaglobulinemia 8, autosomal dominant | 9 | Apr 21, 2025 |
| Agammaglobulinemia 8b, autosomal recessive | 9 | Apr 21, 2025 |
| Aganglionic megacolon | 1 | Mar 18, 2025 |
| Age related macular degeneration 1 | 1 | Mar 18, 2025 |
| Age related macular degeneration 2 | 1 | Mar 18, 2025 |
| Age related macular degeneration 6 | 1 | Apr 21, 2025 |
| Agenesis of the corpus callosum with peripheral neuropathy | 5 | Apr 21, 2025 |
| Aggressive systemic mastocytosis | 2 | Mar 18, 2025 |
| Agnathia-otocephaly complex | 1 | Apr 21, 2025 |
| Aicardi-Goutieres syndrome 1 | 3 | Apr 21, 2025 |
| Aicardi-Goutieres syndrome 2 | 3 | Apr 21, 2025 |
| Aicardi-Goutieres syndrome 3 | 1 | Apr 21, 2025 |
| Aicardi-Goutieres syndrome 5 | 1 | Apr 21, 2025 |
| Aicardi-Goutieres syndrome 7 | 6 | Apr 21, 2025 |
| Al Kaissi syndrome | 1 | Mar 18, 2025 |
| Al-Raqad syndrome | 1 | Mar 18, 2025 |
| Alagille syndrome due to a JAG1 point mutation | 6 | Apr 21, 2025 |
| Alagille syndrome due to a NOTCH2 point mutation | 4 | Apr 21, 2025 |
| Aland island eye disease | 1 | Mar 18, 2025 |
| Alanine glyoxylate aminotransferase deficiency | 5 | Mar 18, 2025 |
| Alazami-Yuan syndrome | 1 | Mar 18, 2025 |
| Alcohol dependence | 1 | Mar 18, 2025 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | Apr 21, 2025 |
| Alexander disease | 4 | Apr 21, 2025 |
| Alkaptonuria | 8 | Apr 21, 2025 |
| Alkuraya-Kucinskas syndrome | 3 | Mar 18, 2025 |
| Allan-Herndon-Dudley syndrome | 3 | Apr 21, 2025 |
| Alopecia universalis congenita | 3 | Apr 21, 2025 |
| Alopecia-intellectual disability syndrome 4 | 2 | Apr 21, 2025 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Apr 21, 2025 |
| Alpha-1-antitrypsin deficiency | 8 | Apr 21, 2025 |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 5 | Apr 21, 2025 |
| Alpha-N-acetylgalactosaminidase deficiency type 2 | 4 | Apr 21, 2025 |
| Alpha-fetoprotein, hereditary persistence of | 5 | Mar 18, 2025 |
| Alpha-methylacyl-CoA racemase deficiency | 2 | Mar 18, 2025 |
| Alport syndrome | 14 | Mar 18, 2025 |
| Alport syndrome 3b, autosomal recessive | 5 | Mar 18, 2025 |
| Alstrom syndrome | 18 | Apr 21, 2025 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 3 | Apr 21, 2025 |
| Alveolar rhabdomyosarcoma | 3 | Apr 21, 2025 |
| Alzahrani-Kuwahara syndrome | 1 | Apr 21, 2025 |
| Alzheimer disease | 1 | Dec 8, 2022 |
| Alzheimer disease 2 | 11 | Mar 18, 2025 |
| Alzheimer disease 3 | 2 | Apr 21, 2025 |
| Alzheimer disease 4 | 2 | Apr 21, 2025 |
| Alzheimer disease 9 | 2 | Apr 21, 2025 |
| Alzheimer disease type 1 | 9 | Apr 21, 2025 |
| Amegakaryocytic thrombocytopenia, congenital, 2 | 3 | Apr 21, 2025 |
| Amelocerebrohypohidrotic syndrome | 2 | Apr 21, 2025 |
| Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 5 | Apr 21, 2025 |
| Amelogenesis imperfecta hypomaturation type 2A2 | 3 | Apr 21, 2025 |
| Amelogenesis imperfecta type 1 | 1 | Mar 18, 2025 |
| Amelogenesis imperfecta type 1A | 10 | Apr 21, 2025 |
| Amelogenesis imperfecta type 1C | 4 | Apr 21, 2025 |
| Amelogenesis imperfecta type 1E | 1 | Mar 18, 2025 |
| Amelogenesis imperfecta type 1F | 1 | Mar 18, 2025 |
| Amelogenesis imperfecta type 1G | 1 | Mar 18, 2025 |
| Amelogenesis imperfecta type 1H | 1 | Apr 21, 2025 |
| Amelogenesis imperfecta, hypomaturation type, IIa6 | 1 | Mar 18, 2025 |
| Amelogenesis imperfecta, type 1J | 1 | Mar 18, 2025 |
| Amelogenesis imperfecta, type 3A | 4 | Apr 21, 2025 |
| Amelogenesis imperfecta, type 3C | 2 | Mar 18, 2025 |
| Aminoacylase 1 deficiency | 1 | Mar 18, 2025 |
| Aminoglycoside-induced deafness | 2 | Apr 21, 2025 |
| Amyloidosis, hereditary systemic 1 | 1 | Mar 18, 2025 |
| Amyloidosis, hereditary systemic 5 | 2 | Apr 21, 2025 |
| Amyloidosis, primary localized cutaneous, 1 | 2 | Apr 21, 2025 |
| Amyloidosis, primary localized cutaneous, 2 | 3 | Apr 21, 2025 |
| Amyloidosis, primary localized cutaneous, 3 | 3 | Mar 18, 2025 |
| Amyotrophic lateral sclerosis | 6 | Mar 18, 2025 |
| Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia | 1 | Mar 18, 2025 |
| Amyotrophic lateral sclerosis 27, juvenile | 3 | Apr 21, 2025 |
| Amyotrophic lateral sclerosis 28 | 2 | Apr 21, 2025 |
| Amyotrophic lateral sclerosis type 1 | 4 | Apr 21, 2025 |
| Amyotrophic lateral sclerosis type 11 | 3 | Apr 21, 2025 |
| Amyotrophic lateral sclerosis type 12 | 4 | Apr 21, 2025 |
| Amyotrophic lateral sclerosis type 15 | 1 | Mar 18, 2025 |
| Amyotrophic lateral sclerosis type 19 | 5 | Apr 21, 2025 |
| Amyotrophic lateral sclerosis type 20 | 1 | Apr 21, 2025 |
| Amyotrophic lateral sclerosis type 22 | 1 | Mar 18, 2025 |
| Amyotrophic lateral sclerosis type 23 | 5 | Mar 18, 2025 |
| Amyotrophic lateral sclerosis type 4 | 11 | Apr 21, 2025 |
| Amyotrophic lateral sclerosis type 5 | 2 | Apr 21, 2025 |
| Amyotrophic lateral sclerosis type 6 | 2 | Apr 21, 2025 |
| Amyotrophic lateral sclerosis type 8 | 1 | Apr 21, 2025 |
| Amyotrophic lateral sclerosis type 9 | 1 | Mar 18, 2025 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 3 | Apr 21, 2025 |
| Amyotrophic lateral sclerosis, susceptibility to, 25 | 1 | Apr 21, 2025 |
| Amyotrophic neuralgia | 2 | Apr 21, 2025 |
| Andersen Tawil syndrome | 1 | Apr 21, 2025 |
| Anemia, congenital dyserythropoietic, type 1a | 1 | Mar 18, 2025 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 11 | Apr 21, 2025 |
| Aneurysm-osteoarthritis syndrome | 2 | Apr 21, 2025 |
| Angelman syndrome | 2 | Apr 21, 2025 |
| Angioedema, hereditary, 4 | 6 | Apr 21, 2025 |
| Angioedema, hereditary, 6 | 1 | Apr 21, 2025 |
| Aniridia 1 | 1 | Mar 18, 2025 |
| Aniridia 3 | 1 | Apr 21, 2025 |
| Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | 3 | Apr 21, 2025 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 3 | Apr 21, 2025 |
| Anterior segment dysgenesis 3 | 5 | Apr 21, 2025 |
| Anterior segment dysgenesis 6 | 4 | Mar 18, 2025 |
| Anterior segment dysgenesis 8 | 1 | Apr 21, 2025 |
| Antichymotrypsin deficiency-alpha-1 | 2 | Apr 21, 2025 |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 9 | Apr 21, 2025 |
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 6 | Apr 21, 2025 |
| Aortic aneurysm, familial thoracic 11, susceptibility to | 1 | Apr 21, 2025 |
| Aortic aneurysm, familial thoracic 12 | 1 | Apr 21, 2025 |
| Aortic aneurysm, familial thoracic 4 | 4 | Apr 21, 2025 |
| Aortic aneurysm, familial thoracic 7 | 7 | Apr 21, 2025 |
| Aortic aneurysm, familial thoracic 8 | 2 | Apr 21, 2025 |
| Aortic valve disease 1 | 11 | Apr 21, 2025 |
| Aortic valve disease 2 | 3 | Mar 18, 2025 |
| Aortic valve disease 3 | 7 | Apr 21, 2025 |
| Aplasia cutis congenita | 2 | Apr 21, 2025 |
| Aplastic anemia | 25 | Apr 21, 2025 |
| Apolipoprotein A-II amyloidosis | 1 | Mar 18, 2025 |
| Apolipoprotein c-III deficiency | 1 | Apr 21, 2025 |
| Arginase deficiency | 1 | Mar 18, 2025 |
| Argininosuccinate lyase deficiency | 4 | Mar 18, 2025 |
| Aromatase deficiency | 1 | Mar 18, 2025 |
| Arrhinia with choanal atresia and microphthalmia syndrome | 4 | Apr 21, 2025 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2 | Mar 18, 2025 |
| Arrhythmogenic right ventricular cardiomyopathy | 9 | Mar 18, 2025 |
| Arrhythmogenic right ventricular dysplasia 10 | 3 | Mar 18, 2025 |
| Arrhythmogenic right ventricular dysplasia 11 | 1 | Mar 18, 2025 |
| Arrhythmogenic right ventricular dysplasia 12 | 6 | Apr 21, 2025 |
| Arrhythmogenic right ventricular dysplasia 5 | 3 | Apr 21, 2025 |
| Arrhythmogenic right ventricular dysplasia 8 | 2 | Mar 18, 2025 |
| Arrhythmogenic right ventricular dysplasia 9 | 2 | Apr 21, 2025 |
| Arrhythmogenic right ventricular dysplasia, familial, 14 | 1 | Mar 18, 2025 |
| Arterial calcification, generalized, of infancy, 1 | 7 | Apr 21, 2025 |
| Arterial calcification, generalized, of infancy, 2 | 13 | Apr 21, 2025 |
| Arterial tortuosity syndrome | 1 | Apr 21, 2025 |
| Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 1 | Mar 18, 2025 |
| Arthrogryposis multiplex congenita 3, myogenic type | 20 | Apr 21, 2025 |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 1 | Mar 18, 2025 |
| Arthrogryposis multiplex congenita 6 | 38 | Apr 21, 2025 |
| Arthrogryposis, distal, IIa 11 | 22 | Apr 21, 2025 |
| Arthrogryposis, distal, type 1A | 1 | Apr 21, 2025 |
| Arthrogryposis, distal, type 1B | 5 | Apr 21, 2025 |
| Arthrogryposis, distal, type 1C | 1 | Mar 18, 2025 |
| Arthrogryposis, distal, type 2B2 | 3 | Apr 21, 2025 |
| Arthrogryposis, distal, type 2B3 | 5 | Apr 21, 2025 |
| Arthrogryposis, distal, with impaired proprioception and touch | 15 | Apr 21, 2025 |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 6 | Apr 21, 2025 |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 1 | Mar 18, 2025 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 15 | Apr 21, 2025 |
| Aspartylglucosaminuria | 4 | Mar 18, 2025 |
| Asphyxiating thoracic dystrophy 2 | 3 | Apr 21, 2025 |
| Asphyxiating thoracic dystrophy 3 | 22 | Mar 18, 2025 |
| Asphyxiating thoracic dystrophy 4 | 6 | Apr 21, 2025 |
| Asphyxiating thoracic dystrophy 5 | 9 | Apr 21, 2025 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 8 | Apr 21, 2025 |
| Ataxia with oculomotor apraxia type 3 | 1 | Mar 18, 2025 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 4 | Mar 18, 2025 |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 1 | Apr 21, 2025 |
| Ataxia-pancytopenia syndrome | 4 | Apr 21, 2025 |
| Ataxia-telangiectasia syndrome | 66 | Apr 21, 2025 |
| Ataxia-telangiectasia-like disorder 1 | 4 | Apr 21, 2025 |
| Ateleiotic dwarfism | 1 | Apr 21, 2025 |
| Atelosteogenesis type I | 12 | Apr 21, 2025 |
| Atelosteogenesis type II | 6 | Apr 21, 2025 |
| Atelosteogenesis type III | 12 | Apr 21, 2025 |
| Atrial conduction disease | 7 | Apr 21, 2025 |
| Atrial fibrillation, familial, 10 | 6 | Apr 21, 2025 |
| Atrial fibrillation, familial, 11 | 1 | Apr 21, 2025 |
| Atrial fibrillation, familial, 13 | 1 | Apr 21, 2025 |
| Atrial fibrillation, familial, 14 | 3 | Apr 21, 2025 |
| Atrial fibrillation, familial, 18 | 1 | Mar 18, 2025 |
| Atrial fibrillation, familial, 3 | 3 | Apr 21, 2025 |
| Atrial fibrillation, familial, 7 | 5 | Apr 21, 2025 |
| Atrial fibrillation, familial, 9 | 1 | Apr 21, 2025 |
| Atrial septal defect 2 | 3 | Apr 21, 2025 |
| Atrial septal defect 3 | 6 | Apr 21, 2025 |
| Atrial septal defect 4 | 2 | Apr 21, 2025 |
| Atrial septal defect 6 | 2 | Apr 21, 2025 |
| Atrial septal defect 7 | 1 | Apr 21, 2025 |
| Atrial septal defect 9 | 3 | Apr 21, 2025 |
| Atrial standstill 1 | 1 | Apr 21, 2025 |
| Atrichia with papular lesions | 3 | Apr 21, 2025 |
| Atrioventricular septal defect 4 | 3 | Apr 21, 2025 |
| Atrioventricular septal defect 5 | 4 | Apr 21, 2025 |
| Atypical glycine encephalopathy | 1 | Mar 18, 2025 |
| Atypical hemolytic-uremic syndrome | 4 | Mar 18, 2025 |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 1 | Mar 18, 2025 |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 1 | Mar 18, 2025 |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 1 | Mar 18, 2025 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 | Mar 18, 2025 |
| Auditory neuropathy | 3 | Mar 18, 2025 |
| Auditory neuropathy, autosomal dominant 3 | 3 | Apr 21, 2025 |
| Auditory neuropathy-optic atrophy syndrome | 2 | Mar 18, 2025 |
| Aural atresia, congenital | 6 | Apr 21, 2025 |
| Auriculocondylar syndrome 1 | 1 | Apr 21, 2025 |
| Auriculocondylar syndrome 2 | 2 | Apr 21, 2025 |
| Auriculocondylar syndrome 2B | 1 | Apr 21, 2025 |
| Auriculocondylar syndrome 3 | 2 | Apr 21, 2025 |
| Autism | 1 | Apr 21, 2025 |
| Autism spectrum disorder | 1 | Mar 18, 2025 |
| Autism, susceptibility to, 20 | 1 | Apr 21, 2025 |
| Autism, susceptibility to, X-linked 2 | 1 | Apr 21, 2025 |
| Autism, susceptibility to, X-linked 3 | 2 | Apr 21, 2025 |
| Autoimmune disease, multisystem, infantile-onset, 2 | 1 | Apr 21, 2025 |
| Autoimmune interstitial lung disease-arthritis syndrome | 1 | Mar 18, 2025 |
| Autoimmune lymphoproliferative syndrome type 2A | 6 | Apr 21, 2025 |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 1 | Mar 18, 2025 |
| Autoimmune thyroid disease, susceptibility to, 3 | 2 | Apr 21, 2025 |
| Autoinflammation with arthritis and dyskeratosis | 2 | Apr 21, 2025 |
| Autoinflammation with arthritis and vasculitis | 3 | Apr 21, 2025 |
| Autoinflammation with episodic fever and lymphadenopathy | 2 | Apr 21, 2025 |
| Autoinflammation, immune dysregulation, and eosinophilia | 3 | Apr 21, 2025 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 4 | Apr 21, 2025 |
| Autoinflammatory disease, X-linked | 2 | Apr 21, 2025 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 3 | Apr 21, 2025 |
| Autosomal dominant Alport syndrome | 5 | Mar 18, 2025 |
| Autosomal dominant Kenny-Caffey syndrome | 2 | Apr 21, 2025 |
| Autosomal dominant Parkinson disease 1 | 1 | Apr 21, 2025 |
| Autosomal dominant Parkinson disease 4 | 1 | Apr 21, 2025 |
| Autosomal dominant Parkinson disease 8 | 13 | Apr 21, 2025 |
| Autosomal dominant Robinow syndrome 1 | 1 | Apr 21, 2025 |
| Autosomal dominant Robinow syndrome 2 | 3 | Mar 18, 2025 |
| Autosomal dominant Robinow syndrome 3 | 1 | Mar 18, 2025 |
| Autosomal dominant aplasia and myelodysplasia | 1 | Apr 21, 2025 |
| Autosomal dominant auditory neuropathy 1 | 1 | Mar 18, 2025 |
| Autosomal dominant centronuclear myopathy | 3 | Apr 21, 2025 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 3 | Mar 18, 2025 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Mar 18, 2025 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Mar 18, 2025 |
| Autosomal dominant deafness - onychodystrophy syndrome | 1 | Mar 18, 2025 |
| Autosomal dominant distal renal tubular acidosis | 3 | Apr 21, 2025 |
| Autosomal dominant hypocalcemia 1 | 3 | Mar 18, 2025 |
| Autosomal dominant ichthyosis vulgaris | 6 | Mar 18, 2025 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 6 | Apr 21, 2025 |
| Autosomal dominant isolated somatotropin deficiency | 1 | Apr 21, 2025 |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 3 | Apr 21, 2025 |
| Autosomal dominant lamellar ichthyosis | 1 | Mar 18, 2025 |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 | Apr 21, 2025 |
| Autosomal dominant limb-girdle muscular dystrophy type 1G | 2 | Apr 21, 2025 |
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 2 | Apr 21, 2025 |
| Autosomal dominant neovascular inflammatory vitreoretinopathy | 3 | Mar 18, 2025 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 | Apr 21, 2025 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 3 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss | 2 | Mar 18, 2025 |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 11 | 14 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 12 | 12 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 13 | 2 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 17 | 6 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 22 | 3 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 25 | 3 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 2B | 4 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 36 | 6 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 3A | 3 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 4A | 9 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 4B | 1 | Mar 18, 2025 |
| Autosomal dominant nonsyndromic hearing loss 5 | 6 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 56 | 8 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 6 | 16 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 65 | 4 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 67 | 1 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 68 | 2 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 7 | 2 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 70 | 5 | Apr 21, 2025 |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 | Mar 18, 2025 |
| Autosomal dominant optic atrophy classic form | 4 | Apr 21, 2025 |
| Autosomal dominant osteopetrosis 1 | 12 | Apr 21, 2025 |
| Autosomal dominant palmoplantar keratoderma and congenital alopecia | 3 | Apr 21, 2025 |
| Autosomal dominant polycystic kidney disease | 68 | Mar 18, 2025 |
| Autosomal dominant polycystic liver disease | 1 | Mar 18, 2025 |
| Autosomal dominant pseudohypoaldosteronism type 1 | 2 | Apr 21, 2025 |
| Autosomal dominant sensory ataxia 1 | 1 | Apr 21, 2025 |
| Autosomal dominant sideroblastic anemia | 5 | Apr 21, 2025 |
| Autosomal dominant slowed nerve conduction velocity | 4 | Apr 21, 2025 |
| Autosomal dominant vibratory urticaria | 8 | Mar 18, 2025 |
| Autosomal dominant vitreoretinochoroidopathy | 4 | Mar 18, 2025 |
| Autosomal dominant wooly hair | 2 | Apr 21, 2025 |
| Autosomal recessive Alport syndrome | 1 | Mar 18, 2025 |
| Autosomal recessive DOPA responsive dystonia | 4 | Apr 21, 2025 |
| Autosomal recessive Kenny-Caffey syndrome | 7 | Apr 21, 2025 |
| Autosomal recessive Parkinson disease 14 | 8 | Apr 21, 2025 |
| Autosomal recessive Robinow syndrome | 8 | Apr 21, 2025 |
| Autosomal recessive amelia | 2 | Apr 21, 2025 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 3 | Mar 18, 2025 |
| Autosomal recessive ataxia, Beauce type | 21 | Apr 21, 2025 |
| Autosomal recessive bestrophinopathy | 4 | Mar 18, 2025 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Mar 18, 2025 |
| Autosomal recessive congenital ichthyosis 1 | 6 | Apr 21, 2025 |
| Autosomal recessive congenital ichthyosis 10 | 2 | Mar 18, 2025 |
| Autosomal recessive congenital ichthyosis 2 | 7 | Mar 18, 2025 |
| Autosomal recessive congenital ichthyosis 3 | 3 | Mar 18, 2025 |
| Autosomal recessive congenital ichthyosis 4A | 3 | Mar 18, 2025 |
| Autosomal recessive congenital ichthyosis 4B | 12 | Mar 18, 2025 |
| Autosomal recessive congenital ichthyosis 5 | 2 | Mar 18, 2025 |
| Autosomal recessive congenital ichthyosis 6 | 1 | Mar 18, 2025 |
| Autosomal recessive congenital ichthyosis 9 | 2 | Mar 18, 2025 |
| Autosomal recessive cutis laxa type 2B | 6 | Apr 21, 2025 |
| Autosomal recessive distal spinal muscular atrophy 1 | 5 | Apr 21, 2025 |
| Autosomal recessive early-onset Parkinson disease 23 | 2 | Apr 21, 2025 |
| Autosomal recessive early-onset Parkinson disease 6 | 3 | Mar 18, 2025 |
| Autosomal recessive hypophosphatemic bone disease | 2 | Mar 18, 2025 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 24 | Apr 21, 2025 |
| Autosomal recessive juvenile Parkinson disease 2 | 4 | Mar 18, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy | 16 | Mar 18, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 6 | Apr 21, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 3 | Mar 18, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 4 | Apr 21, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 3 | Apr 21, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 3 | Apr 21, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 135 | Apr 21, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 4 | Apr 21, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 2 | Mar 18, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 2 | Apr 21, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 4 | Apr 21, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 3 | Mar 18, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 1 | Mar 18, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 38 | Apr 21, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2R1 | 1 | Apr 21, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 3 | Mar 18, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 2 | Mar 18, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 | Apr 21, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2X | 1 | Apr 21, 2025 |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 2 | Apr 21, 2025 |
| Autosomal recessive multiple pterygium syndrome | 1 | Mar 18, 2025 |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 16 | 6 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 18A | 8 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 18B | 6 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 1A | 7 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 2 | 14 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 21 | 12 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 22 | 2 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 23 | 9 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 25 | 2 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 28 | 21 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 | Mar 18, 2025 |
| Autosomal recessive nonsyndromic hearing loss 3 | 23 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 30 | 13 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 35 | 4 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 36 | 4 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 37 | 3 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 4 | 15 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 42 | 5 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 | Mar 18, 2025 |
| Autosomal recessive nonsyndromic hearing loss 53 | 2 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 6 | 1 | Mar 18, 2025 |
| Autosomal recessive nonsyndromic hearing loss 61 | 1 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 63 | 4 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 7 | 6 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 70 | 6 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 76 | 1 | Mar 18, 2025 |
| Autosomal recessive nonsyndromic hearing loss 77 | 12 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 79 | 9 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 8 | 8 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 84A | 3 | Mar 18, 2025 |
| Autosomal recessive nonsyndromic hearing loss 84B | 8 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 86 | 4 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 88 | 1 | Mar 18, 2025 |
| Autosomal recessive nonsyndromic hearing loss 9 | 20 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 97 | 22 | Apr 21, 2025 |
| Autosomal recessive nonsyndromic hearing loss 98 | 2 | Mar 18, 2025 |
| Autosomal recessive optic atrophy, OPA7 type | 1 | Mar 18, 2025 |
| Autosomal recessive osteopetrosis 1 | 9 | Apr 21, 2025 |
| Autosomal recessive osteopetrosis 2 | 1 | Mar 18, 2025 |
| Autosomal recessive osteopetrosis 4 | 2 | Mar 18, 2025 |
| Autosomal recessive osteopetrosis 6 | 1 | Apr 21, 2025 |
| Autosomal recessive polycystic kidney disease | 17 | Mar 18, 2025 |
| Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | 1 | Apr 21, 2025 |
| Autosomal recessive primary microcephaly | 1 | Mar 18, 2025 |
| Autosomal recessive proximal renal tubular acidosis | 3 | Apr 21, 2025 |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 2 | Mar 18, 2025 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 1 | Mar 18, 2025 |
| Autosomal recessive spastic paraplegia type 76 | 2 | Mar 18, 2025 |
| Autosomal recessive spastic paraplegia type 78 | 2 | Mar 18, 2025 |
| Autosomal recessive spinocerebellar ataxia 10 | 3 | Mar 18, 2025 |
| Autosomal recessive spinocerebellar ataxia 12 | 1 | Apr 21, 2025 |
| Autosomal recessive spinocerebellar ataxia 13 | 1 | Mar 18, 2025 |
| Autosomal recessive spinocerebellar ataxia 14 | 8 | Apr 21, 2025 |
| Autosomal recessive spinocerebellar ataxia 16 | 2 | Apr 21, 2025 |
| Autosomal recessive spinocerebellar ataxia 7 | 2 | Apr 21, 2025 |
| Autosomal systemic lupus erythematosus type 16 | 1 | Mar 18, 2025 |
| Avascular necrosis of femoral head, primary, 2 | 1 | Apr 21, 2025 |
| Avellino corneal dystrophy | 2 | Apr 21, 2025 |
| Axenfeld-Rieger syndrome type 3 | 4 | Apr 21, 2025 |
| Axial spondylometaphyseal dysplasia | 1 | Mar 18, 2025 |
| Azorean disease | 4 | Mar 18, 2025 |
| B4GALT1-congenital disorder of glycosylation | 1 | Mar 18, 2025 |
| BAP1-related tumor predisposition syndrome | 28 | Apr 21, 2025 |
| BARD1-related cancer predisposition | 60 | Mar 18, 2025 |
| BBS1-related ciliopathy | 7 | Mar 18, 2025 |
| BBS10-related ciliopathy | 2 | Mar 18, 2025 |
| BBS12-related ciliopathy | 4 | Mar 18, 2025 |
| BBS2-related ciliopathy | 1 | Mar 18, 2025 |
| BBS7-related ciliopathy | 5 | Mar 18, 2025 |
| BBS9-related ciliopathy | 7 | Mar 18, 2025 |
| BEST1-related dominant retinopathy | 6 | Mar 18, 2025 |
| BLOOD GROUP--LUTHERAN SYSTEM | 1 | Apr 21, 2025 |
| BNAR syndrome | 7 | Apr 21, 2025 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 2 | Apr 21, 2025 |
| BRCA2-related cancer predisposition | 193 | Mar 18, 2025 |
| BTNL2-related condition | 1 | Mar 18, 2025 |
| Baller-Gerold syndrome | 14 | Apr 21, 2025 |
| Bamforth-Lazarus syndrome | 3 | Apr 21, 2025 |
| Baraitser-winter syndrome 2 | 1 | Mar 18, 2025 |
| Bardet-Biedl syndrome | 17 | Mar 18, 2025 |
| Bardet-Biedl syndrome 10 | 1 | Apr 21, 2025 |
| Bardet-Biedl syndrome 11 | 3 | Apr 21, 2025 |
| Bardet-Biedl syndrome 13 | 5 | Apr 21, 2025 |
| Bardet-Biedl syndrome 14 | 15 | Apr 21, 2025 |
| Bardet-Biedl syndrome 15 | 1 | Apr 21, 2025 |
| Bardet-Biedl syndrome 20 | 1 | Mar 18, 2025 |
| Bardet-Biedl syndrome 3 | 1 | Mar 18, 2025 |
| Bardet-Biedl syndrome 4 | 1 | Apr 21, 2025 |
| Bardet-Biedl syndrome 6 | 6 | Apr 21, 2025 |
| Bardet-Biedl syndrome 8 | 2 | Apr 21, 2025 |
| Bardet-biedl syndrome 21 | 1 | Apr 21, 2025 |
| Bartsocas-Papas syndrome 1 | 2 | Apr 21, 2025 |
| Bartter disease type 1 | 6 | Apr 21, 2025 |
| Bartter disease type 2 | 5 | Apr 21, 2025 |
| Bartter disease type 3 | 2 | Apr 21, 2025 |
| Bartter disease type 4A | 1 | Mar 18, 2025 |
| Bartter disease type 4B | 2 | Apr 21, 2025 |
| Bartter syndrome type 4 | 4 | Mar 18, 2025 |
| Basal cell carcinoma, susceptibility to, 1 | 56 | Apr 21, 2025 |
| Basal cell nevus syndrome 1 | 48 | Apr 21, 2025 |
| Basal cell nevus syndrome 2 | 11 | Apr 21, 2025 |
| Basal ganglia calcification, idiopathic, 4 | 6 | Apr 21, 2025 |
| Basal ganglia calcification, idiopathic, 5 | 1 | Apr 21, 2025 |
| Basal ganglia calcification, idiopathic, 6 | 1 | Mar 18, 2025 |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 1 | Mar 18, 2025 |
| Basilicata-Akhtar syndrome | 2 | Apr 21, 2025 |
| Beare-Stevenson cutis gyrata syndrome | 2 | Apr 21, 2025 |
| Beck-Fahrner syndrome | 3 | Apr 21, 2025 |
| Beckwith-Wiedemann syndrome | 5 | Apr 21, 2025 |
| Benign adult familial myoclonic epilepsy | 1 | Mar 18, 2025 |
| Benign concentric annular macular dystrophy | 6 | Apr 21, 2025 |
| Benign familial infantile epilepsy | 2 | Mar 18, 2025 |
| Benign recurrent intrahepatic cholestasis type 2 | 5 | Apr 21, 2025 |
| Bent bone dysplasia syndrome 1 | 2 | Apr 21, 2025 |
| Bernard Soulier syndrome | 5 | Apr 21, 2025 |
| Bernard-Soulier syndrome, type A2, autosomal dominant | 3 | Apr 21, 2025 |
| Beryllium disease, chronic, susceptibility to | 1 | Apr 21, 2025 |
| Beta-D-mannosidosis | 4 | Mar 18, 2025 |
| Beta-thalassemia HBB/LCRB | 6 | Apr 21, 2025 |
| Beta-thalassemia-X-linked thrombocytopenia syndrome | 1 | Apr 21, 2025 |
| Bethlem myopathy 1A | 1 | Apr 21, 2025 |
| Bethlem myopathy 1B | 2 | Apr 21, 2025 |
| Bethlem myopathy 1C | 2 | Apr 21, 2025 |
| Bethlem myopathy 2 | 12 | Apr 21, 2025 |
| Bifunctional peroxisomal enzyme deficiency | 4 | Apr 21, 2025 |
| Bilateral frontoparietal polymicrogyria | 1 | Mar 18, 2025 |
| Bilateral microtia-deafness-cleft palate syndrome | 1 | Apr 21, 2025 |
| Bilateral parasagittal parieto-occipital polymicrogyria | 3 | Apr 21, 2025 |
| Bile acid malabsorption, primary, 1 | 3 | Apr 21, 2025 |
| Bile duct cancer | 10 | Mar 31, 2021 |
| Biotin-responsive basal ganglia disease | 6 | Apr 21, 2025 |
| Biotinidase deficiency | 10 | Mar 18, 2025 |
| Birt-Hogg-Dube syndrome 1 | 21 | Apr 21, 2025 |
| Blau syndrome | 13 | Apr 21, 2025 |
| Bleeding disorder, platelet-type, 13, susceptibility to | 1 | Apr 21, 2025 |
| Bleeding disorder, platelet-type, 21 | 1 | Apr 21, 2025 |
| Bleeding disorder, platelet-type, 22 | 1 | Apr 21, 2025 |
| Bleeding disorder, platelet-type, 24 | 2 | Apr 21, 2025 |
| Blepharocheilodontic syndrome 1 | 9 | Apr 21, 2025 |
| Blepharocheilodontic syndrome 2 | 2 | Apr 21, 2025 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 2 | Apr 21, 2025 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 2 | Apr 21, 2025 |
| Blepharophimosis-impaired intellectual development syndrome | 2 | Apr 21, 2025 |
| Bloom syndrome | 2 | Apr 21, 2025 |
| Blue color blindness | 1 | Apr 21, 2025 |
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 2 | Mar 18, 2025 |
| Bohring-Opitz syndrome | 5 | Mar 18, 2025 |
| Bombay phenotype | 2 | Apr 21, 2025 |
| Bone marrow failure syndrome 3 | 1 | Mar 18, 2025 |
| Bone marrow failure syndrome 4 | 1 | Apr 21, 2025 |
| Bone marrow failure syndrome 5 | 1 | Apr 21, 2025 |
| Bone marrow failure syndrome 6 | 1 | Apr 21, 2025 |
| Bone osteosarcoma | 21 | Apr 21, 2025 |
| Boomerang dysplasia | 12 | Apr 21, 2025 |
| Bothnia retinal dystrophy | 3 | Apr 21, 2025 |
| Brachydactyly type A1C | 2 | Apr 21, 2025 |
| Brachydactyly type A1D | 1 | Apr 21, 2025 |
| Brachydactyly type B1 | 8 | Apr 21, 2025 |
| Brachydactyly type C | 2 | Apr 21, 2025 |
| Brachydactyly type D | 3 | Apr 21, 2025 |
| Brachydactyly type E1 | 3 | Apr 21, 2025 |
| Brachydactyly-arterial hypertension syndrome | 5 | Apr 21, 2025 |
| Brachydactyly-syndactyly syndrome | 2 | Apr 21, 2025 |
| Brachyolmia-amelogenesis imperfecta syndrome | 1 | Apr 21, 2025 |
| Brachyrachia (short spine dysplasia) | 1 | Apr 21, 2025 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 1 | Mar 18, 2025 |
| Brain small vessel disease 1 with or without ocular anomalies | 9 | Mar 18, 2025 |
| Brain small vessel disease 3 | 1 | Mar 18, 2025 |
| Branchiootic syndrome 1 | 1 | Apr 21, 2025 |
| Branchiootic syndrome 3 | 1 | Apr 21, 2025 |
| Branchiootorenal syndrome 1 | 2 | Apr 21, 2025 |
| Branchiootorenal syndrome 2 | 4 | Apr 21, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 215 | Apr 21, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 348 | Apr 21, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 61 | Apr 21, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 24 | Apr 21, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 147 | Apr 21, 2025 |
| Brittle cornea syndrome 1 | 47 | Apr 21, 2025 |
| Brittle cornea syndrome 2 | 2 | Mar 18, 2025 |
| Brody myopathy | 4 | Apr 21, 2025 |
| Bronchiectasis with or without elevated sweat chloride 1 | 16 | Apr 21, 2025 |
| Bronchiectasis with or without elevated sweat chloride 2 | 4 | Apr 21, 2025 |
| Brown-Vialetto-van Laere syndrome 1 | 1 | Apr 21, 2025 |
| Brown-Vialetto-van Laere syndrome 2 | 2 | Apr 21, 2025 |
| Bruck syndrome 2 | 1 | Apr 21, 2025 |
| Brugada syndrome | 11 | Mar 18, 2025 |
| Brugada syndrome 1 | 7 | Apr 21, 2025 |
| Brugada syndrome 2 | 1 | Apr 21, 2025 |
| Brugada syndrome 5 | 1 | Apr 21, 2025 |
| Brugada syndrome 8 | 2 | Apr 21, 2025 |
| Brugada syndrome 9 | 1 | Apr 21, 2025 |
| Budd-Chiari syndrome | 16 | Apr 21, 2025 |
| C syndrome | 2 | Mar 18, 2025 |
| C1Q deficiency 3 | 1 | Mar 18, 2025 |
| C3 glomerulonephritis | 4 | Apr 21, 2025 |
| CACNA1F-related retinopathy | 1 | Mar 18, 2025 |
| CACNA2D4-related retinopathy | 1 | Mar 18, 2025 |
| CALCR-related disorder | 2 | Mar 18, 2025 |
| CAPN10-related disorder | 2 | Mar 18, 2025 |
| CARASIL syndrome | 4 | Mar 18, 2025 |
| CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | 1 | Apr 21, 2025 |
| CATSPER2-related condition | 1 | Mar 18, 2025 |
| CBL-related disorder | 1 | Mar 18, 2025 |
| CCDC170-related condition | 1 | Mar 18, 2025 |
| CCDC28B-related disorder | 1 | Mar 18, 2025 |
| CCL2-related disorder | 1 | Mar 18, 2025 |
| CCL5-related condition | 1 | Mar 18, 2025 |
| CDCA8-related condition | 1 | Mar 18, 2025 |
| CDH1-related diffuse gastric and lobular breast cancer syndrome | 61 | Mar 18, 2025 |
| CDH10-related condition | 2 | Mar 18, 2025 |
| CEBALID syndrome | 4 | Apr 21, 2025 |
| CEP290-related ciliopathy | 11 | Mar 18, 2025 |
| CERKL-related retinopathy | 1 | Mar 18, 2025 |
| CES1-related condition | 2 | Mar 18, 2025 |
| CFAP91-related condition | 2 | Mar 18, 2025 |
| CHARGE syndrome | 4 | Mar 18, 2025 |
| CHEK2-related cancer predisposition | 93 | Apr 21, 2025 |
| CHIME syndrome | 1 | Apr 21, 2025 |
| CHRNA5-related condition | 1 | Mar 18, 2025 |
| CHRNG-associated hypo-akinesia disorder of prenatal onset | 5 | Mar 18, 2025 |
| CIDEC-related familial partial lipodystrophy | 1 | Mar 18, 2025 |
| CLASP1-related disorder | 2 | Apr 21, 2025 |
| CNGA1-related retinopathy | 2 | Mar 18, 2025 |
| CNGA3-related retinopathy | 7 | Mar 18, 2025 |
| CNGB1-related retinopathy | 12 | Mar 18, 2025 |
| CNGB3-related retinopathy | 7 | Mar 18, 2025 |
| COACH syndrome 1 | 15 | Apr 21, 2025 |
| COACH syndrome 2 | 2 | Apr 21, 2025 |
| COACH syndrome 3 | 4 | Apr 21, 2025 |
| CODAS syndrome | 3 | Apr 21, 2025 |
| COG4-congenital disorder of glycosylation | 2 | Mar 18, 2025 |
| COG6-congenital disorder of glycosylation | 1 | Mar 18, 2025 |
| COG8-congenital disorder of glycosylation | 1 | Mar 18, 2025 |
| CPOX-related hereditary coproporphyria | 2 | Mar 18, 2025 |
| CRTC1-related condition | 1 | Mar 18, 2025 |
| CRYGA-related disorder | 1 | Mar 18, 2025 |
| CTR9-related disorder | 2 | Apr 21, 2025 |
| CYBRD1-related disorder | 1 | Apr 21, 2025 |
| CYP1B1-related glaucoma with or without anterior segment dysgenesis | 1 | Mar 18, 2025 |
| CYP2B6-related disorder | 1 | Mar 18, 2025 |
| CYP2D6-related condition | 1 | Mar 18, 2025 |
| Café-au-lait macules with pulmonary stenosis | 22 | Apr 21, 2025 |
| Calvarial doughnut lesions-bone fragility syndrome | 1 | Apr 21, 2025 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 2 | Apr 21, 2025 |
| Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | 2 | Apr 21, 2025 |
| Candidiasis, familial, 9 | 1 | Mar 18, 2025 |
| Capillary infantile hemangioma | 10 | Apr 21, 2025 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Apr 21, 2025 |
| Capillary malformation-arteriovenous malformation 2 | 1 | Mar 18, 2025 |
| Carcinoma of colon | 667 | Mar 31, 2021 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 4 | Apr 21, 2025 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Apr 21, 2025 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | Apr 21, 2025 |
| Cardiac valvular defect, developmental | 2 | Mar 18, 2025 |
| Cardiac valvular dysplasia, X-linked | 4 | Apr 21, 2025 |
| Cardiac, facial, and digital anomalies with developmental delay | 3 | Apr 21, 2025 |
| Cardiac-urogenital syndrome | 5 | Apr 21, 2025 |
| Cardio-facio-cutaneous syndrome | 1 | Mar 18, 2025 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 6 | Apr 21, 2025 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 2 | Mar 18, 2025 |
| Cardiofaciocutaneous syndrome 3 | 3 | Apr 21, 2025 |
| Cardiofaciocutaneous syndrome 4 | 2 | Apr 21, 2025 |
| Cardiomyopathy, dilated, 2E | 3 | Apr 21, 2025 |
| Cardiomyopathy, dilated, 2c | 1 | Mar 18, 2025 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2 | Mar 18, 2025 |
| Cardiomyopathy, familial hypertrophic 27 | 4 | Mar 18, 2025 |
| Cardiomyopathy, familial restrictive, 3 | 2 | Apr 21, 2025 |
| Cardiomyopathy-hypotonia-lactic acidosis syndrome | 1 | Apr 21, 2025 |
| Carney complex - trismus - pseudocamptodactyly syndrome | 4 | Apr 21, 2025 |
| Carney complex, type 1 | 10 | Mar 18, 2025 |
| Carney-Stratakis syndrome | 36 | Apr 21, 2025 |
| Carnitine palmitoyl transferase 1A deficiency | 2 | Mar 18, 2025 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 3 | Mar 18, 2025 |
| Carnitine palmitoyltransferase II deficiency | 6 | Mar 18, 2025 |
| Cataract 12 multiple types | 4 | Mar 18, 2025 |
| Cataract 13 with adult I phenotype | 5 | Apr 21, 2025 |
| Cataract 14 multiple types | 2 | Apr 21, 2025 |
| Cataract 15 multiple types | 1 | Apr 21, 2025 |
| Cataract 16 multiple types | 2 | Mar 18, 2025 |
| Cataract 17 multiple types | 1 | Mar 18, 2025 |
| Cataract 2, multiple types | 2 | Mar 18, 2025 |
| Cataract 20 multiple types | 1 | Mar 18, 2025 |
| Cataract 22 multiple types | 3 | Mar 18, 2025 |
| Cataract 23 | 1 | Apr 21, 2025 |
| Cataract 3 multiple types | 2 | Mar 18, 2025 |
| Cataract 30 | 2 | Apr 21, 2025 |
| Cataract 36 | 1 | Apr 21, 2025 |
| Cataract 38 | 1 | Apr 21, 2025 |
| Cataract 40 | 1 | Apr 21, 2025 |
| Cataract 41 | 16 | Apr 21, 2025 |
| Cataract 42 | 2 | Apr 21, 2025 |
| Cataract 43 | 5 | Apr 21, 2025 |
| Cataract 44 | 2 | Apr 21, 2025 |
| Cataract 45 | 1 | Mar 18, 2025 |
| Cataract 5 multiple types | 1 | Apr 21, 2025 |
| Cataract 6 multiple types | 5 | Apr 21, 2025 |
| Cataract 9 multiple types | 2 | Mar 18, 2025 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 20 | Apr 21, 2025 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 3 | Mar 18, 2025 |
| Catecholaminergic polymorphic ventricular tachycardia 3 | 1 | Mar 18, 2025 |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 3 | Mar 18, 2025 |
| Catel-Manzke syndrome | 2 | Apr 21, 2025 |
| Catifa syndrome | 2 | Apr 21, 2025 |
| Caveolinopathy | 1 | Mar 18, 2025 |
| Cenani-Lenz syndactyly syndrome | 2 | Apr 21, 2025 |
| Central core myopathy | 32 | Apr 21, 2025 |
| Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction | 2 | Mar 18, 2025 |
| Centronuclear myopathy | 3 | Mar 18, 2025 |
| Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | 1 | Apr 21, 2025 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 3 | Mar 18, 2025 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 2 | Mar 18, 2025 |
| Cerebellar ataxia-hypogonadism syndrome | 1 | Mar 18, 2025 |
| Cerebellar atrophy, developmental delay, and seizures | 2 | Apr 21, 2025 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 2 | Mar 18, 2025 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 5 | Mar 18, 2025 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 11 | Apr 21, 2025 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 4 | Mar 18, 2025 |
| Cerebral cavernous malformation | 4 | Apr 21, 2025 |
| Cerebral cavernous malformation 2 | 4 | Mar 18, 2025 |
| Cerebral cavernous malformation 3 | 2 | Apr 21, 2025 |
| Cerebral folate transport deficiency | 1 | Apr 21, 2025 |
| Cerebral palsy, spastic quadriplegic, 2 | 3 | Apr 21, 2025 |
| Cerebrooculofacioskeletal syndrome 1 | 12 | Apr 21, 2025 |
| Cerebrooculofacioskeletal syndrome 2 | 8 | Apr 21, 2025 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 3 | Apr 21, 2025 |
| Cerebroretinal microangiopathy with calcifications and cysts 3 | 11 | Apr 21, 2025 |
| Cervical cancer | 3 | Apr 21, 2025 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 7 | Apr 21, 2025 |
| Char syndrome | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease | 10 | Mar 18, 2025 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease axonal type 2CC | 3 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease axonal type 2K | 3 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease axonal type 2N | 4 | Mar 18, 2025 |
| Charcot-Marie-Tooth disease axonal type 2O | 3 | Mar 18, 2025 |
| Charcot-Marie-Tooth disease axonal type 2P | 7 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease axonal type 2S | 5 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease axonal type 2T | 5 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease axonal type 2V | 5 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease axonal type 2X | 2 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease dominant intermediate E | 4 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease recessive intermediate C | 10 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 1B | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 1C | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 1D | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 1E | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 1F | 3 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 2A1 | 9 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Mar 18, 2025 |
| Charcot-Marie-Tooth disease type 2B1 | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 2B2 | 2 | Mar 18, 2025 |
| Charcot-Marie-Tooth disease type 2D | 2 | Mar 18, 2025 |
| Charcot-Marie-Tooth disease type 2E | 3 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 2I | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 2J | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 4 | 1 | Mar 18, 2025 |
| Charcot-Marie-Tooth disease type 4B1 | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 4B3 | 2 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 4C | 10 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 4D | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 4E | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 4F | 11 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 4G | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 4H | 7 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 4J | 3 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease type 4K | 1 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease, axonal, IIa 2II | 5 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease, axonal, Type 2HH | 5 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 1 | Mar 18, 2025 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 2 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1H | 4 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease, dominant intermediate G | 3 | Apr 21, 2025 |
| Charcot-Marie-Tooth disease, type IA | 1 | Apr 21, 2025 |
| Charcot-Marie-tooth disease, axonal, type 2DD | 1 | Mar 18, 2025 |
| Charlevoix-Saguenay spastic ataxia | 20 | Apr 21, 2025 |
| Chilblain lupus 1 | 2 | Apr 21, 2025 |
| Chilblain lupus 2 | 1 | Apr 21, 2025 |
| Childhood apraxia of speech | 2 | Apr 21, 2025 |
| Childhood hypophosphatasia | 10 | Mar 18, 2025 |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 | Apr 21, 2025 |
| Chitayat syndrome | 2 | Apr 21, 2025 |
| Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 15 | Apr 21, 2025 |
| Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 3 | Apr 21, 2025 |
| Cholestanol storage disease | 5 | Mar 18, 2025 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 3 | Mar 18, 2025 |
| Cholestasis, progressive familial intrahepatic, 10 | 2 | Apr 21, 2025 |
| Cholestasis, progressive familial intrahepatic, 12 | 5 | Apr 21, 2025 |
| Cholestasis, progressive familial intrahepatic, 4 | 1 | Mar 18, 2025 |
| Cholestasis, progressive familial intrahepatic, 8 | 2 | Mar 18, 2025 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 2 | Apr 21, 2025 |
| Cholesterol-ester transfer protein deficiency | 3 | Mar 18, 2025 |
| Cholesteryl ester storage disease | 1 | Apr 21, 2025 |
| Chondrodysplasia Blomstrand type | 2 | Apr 21, 2025 |
| Chorea-acanthocytosis | 16 | Apr 21, 2025 |
| Choroid plexus papilloma | 1 | Apr 21, 2025 |
| Choroidal dystrophy, central areolar 2 | 4 | Apr 21, 2025 |
| Choroidal dystrophy, central areolar, 1 | 8 | Apr 21, 2025 |
| Choroideremia | 1 | Mar 18, 2025 |
| Chromosome 17q11.2 deletion syndrome, 1.4Mb | 5 | Mar 18, 2025 |
| Chromosome 1p36 deletion syndrome | 1 | Mar 18, 2025 |
| Chromosome 1q21.1 deletion syndrome | 1 | Apr 21, 2025 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Apr 21, 2025 |
| Chronic granulomatous disease | 1 | Mar 18, 2025 |
| Chronic infantile neurological, cutaneous and articular syndrome | 2 | Mar 18, 2025 |
| Chudley-McCullough syndrome | 2 | Apr 21, 2025 |
| Chuvash polycythemia | 16 | Apr 21, 2025 |
| Chédiak-Higashi syndrome | 13 | Apr 21, 2025 |
| Ciliary dyskinesia, primary, 37 | 5 | Apr 21, 2025 |
| Ciliary dyskinesia, primary, 40 | 11 | Apr 21, 2025 |
| Ciliary dyskinesia, primary, 41 | 3 | Apr 21, 2025 |
| Ciliary dyskinesia, primary, 42 | 1 | Apr 21, 2025 |
| Ciliary dyskinesia, primary, 43 | 2 | Apr 21, 2025 |
| Ciliary dyskinesia, primary, 46 | 2 | Mar 18, 2025 |
| Ciliary dyskinesia, primary, 47, and lissencephaly | 1 | Apr 21, 2025 |
| Ciliopathy | 25 | Mar 18, 2025 |
| Citrin deficiency | 2 | Mar 18, 2025 |
| Citrullinemia type I | 7 | Apr 21, 2025 |
| Citrullinemia, type II, adult-onset | 1 | Apr 21, 2025 |
| Clark-Baraitser syndrome | 4 | Apr 21, 2025 |
| Classic Hodgkin lymphoma | 1 | Apr 21, 2025 |
| Classic homocystinuria | 7 | Mar 18, 2025 |
| Classic or attenuated familial adenomatous polyposis | 107 | Mar 18, 2025 |
| Cleidocranial dysostosis | 2 | Apr 21, 2025 |
| Cobalamin C disease | 10 | Apr 21, 2025 |
| Cobblestone lissencephaly without muscular or ocular involvement | 1 | Mar 18, 2025 |
| Cockayne spectrum with or without cerebrooculofacioskeletal syndrome | 1 | Mar 18, 2025 |
| Cockayne syndrome type 1 | 4 | Apr 21, 2025 |
| Cockayne syndrome type 2 | 12 | Apr 21, 2025 |
| Coffin-Siris syndrome | 34 | Mar 18, 2025 |
| Coffin-Siris syndrome 1 | 4 | Apr 21, 2025 |
| Coffin-Siris syndrome 10 | 3 | Apr 21, 2025 |
| Coffin-Siris syndrome 5 | 3 | Apr 21, 2025 |
| Coffin-Siris syndrome 8 | 4 | Apr 21, 2025 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 | Mar 31, 2021 |
| Cognitive impairment with or without cerebellar ataxia | 2 | Apr 21, 2025 |
| Cohen syndrome | 29 | Apr 21, 2025 |
| Cold-induced sweating syndrome 1 | 2 | Mar 18, 2025 |
| Cole-Carpenter syndrome 1 | 1 | Apr 21, 2025 |
| Collagen 6-related myopathy | 20 | Mar 18, 2025 |
| Coloboma, ocular, autosomal recessive | 1 | Mar 18, 2025 |
| Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 3 | Apr 21, 2025 |
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 1 | Apr 21, 2025 |
| Colon cancer | 3 | Aug 22, 2024 |
| Colorectal cancer | 146 | Apr 21, 2025 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 109 | Apr 21, 2025 |
| Colorectal cancer, hereditary nonpolyposis, type 6 | 1 | Apr 21, 2025 |
| Colorectal cancer, hereditary nonpolyposis, type 7 | 101 | Apr 21, 2025 |
| Colorectal cancer, susceptibility to, 1 | 84 | Apr 21, 2025 |
| Colorectal cancer, susceptibility to, 10 | 46 | Apr 21, 2025 |
| Colorectal cancer, susceptibility to, 12 | 133 | Apr 21, 2025 |
| Combined deficiency of sialidase AND beta galactosidase | 2 | Apr 21, 2025 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 1 | Mar 18, 2025 |
| Combined immunodeficiency due to DOCK8 deficiency | 3 | Mar 18, 2025 |
| Combined immunodeficiency due to LRBA deficiency | 3 | Apr 21, 2025 |
| Combined immunodeficiency due to MALT1 deficiency | 1 | Mar 18, 2025 |
| Combined immunodeficiency due to ORAI1 deficiency | 3 | Apr 21, 2025 |
| Combined immunodeficiency due to STIM1 deficiency | 3 | Apr 21, 2025 |
| Combined immunodeficiency due to ZAP70 deficiency | 1 | Apr 21, 2025 |
| Combined immunodeficiency with faciooculoskeletal anomalies | 4 | Apr 21, 2025 |
| Combined immunodeficiency with skin granulomas | 10 | Apr 21, 2025 |
| Combined immunodeficiency, X-linked | 1 | Apr 21, 2025 |
| Combined malonic and methylmalonic acidemia | 4 | Mar 18, 2025 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 3 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 11 | 1 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 13 | 6 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 14 | 3 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 15 | 3 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 17 | 2 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 2 | 1 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 20 | 4 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 21 | 2 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 23 | 1 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 24 | 1 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 25 | 2 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 26 | 3 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 30 | 1 | Mar 18, 2025 |
| Combined oxidative phosphorylation defect type 4 | 4 | Apr 21, 2025 |
| Combined oxidative phosphorylation defect type 8 | 2 | Mar 18, 2025 |
| Combined oxidative phosphorylation deficiency 39 | 3 | Apr 21, 2025 |
| Combined oxidative phosphorylation deficiency 40 | 1 | Mar 18, 2025 |
| Combined oxidative phosphorylation deficiency 42 | 1 | Mar 18, 2025 |
| Combined oxidative phosphorylation deficiency 43 | 1 | Apr 21, 2025 |
| Combined oxidative phosphorylation deficiency 44 | 2 | Apr 21, 2025 |
| Combined oxidative phosphorylation deficiency 53 | 1 | Apr 21, 2025 |
| Combined oxidative phosphorylation deficiency 54 | 1 | Apr 21, 2025 |
| Complement component 2 deficiency | 3 | Mar 18, 2025 |
| Complement component 4a deficiency | 1 | Mar 18, 2025 |
| Complement component 5 deficiency | 5 | Apr 21, 2025 |
| Complement component 6 deficiency | 5 | Mar 18, 2025 |
| Complement component 7 deficiency | 4 | Mar 18, 2025 |
| Complement component 9 deficiency | 4 | Mar 18, 2025 |
| Complex cortical dysplasia with other brain malformations 2 | 2 | Apr 21, 2025 |
| Complex cortical dysplasia with other brain malformations 3 | 2 | Apr 21, 2025 |
| Complex hereditary spastic paraplegia | 1 | Mar 18, 2025 |
| Complex neurodevelopmental disorder | 30 | Mar 18, 2025 |
| Complex neurodevelopmental disorder with motor features | 4 | Mar 18, 2025 |
| Complex neurodevelopmental disorder with or without congenital anomalies | 2 | Mar 18, 2025 |
| Compton-North congenital myopathy | 2 | Mar 18, 2025 |
| Cone dystrophy 3 | 1 | Apr 21, 2025 |
| Cone dystrophy 4 | 4 | Apr 21, 2025 |
| Cone dystrophy with supernormal rod response | 1 | Mar 18, 2025 |
| Cone-rod dystrophy 10 | 4 | Apr 21, 2025 |
| Cone-rod dystrophy 11 | 1 | Apr 21, 2025 |
| Cone-rod dystrophy 12 | 7 | Apr 21, 2025 |
| Cone-rod dystrophy 13 | 15 | Apr 21, 2025 |
| Cone-rod dystrophy 15 | 8 | Mar 18, 2025 |
| Cone-rod dystrophy 16 | 1 | Apr 21, 2025 |
| Cone-rod dystrophy 18 | 1 | Mar 18, 2025 |
| Cone-rod dystrophy 2 | 3 | Mar 18, 2025 |
| Cone-rod dystrophy 21 | 1 | Mar 18, 2025 |
| Cone-rod dystrophy 22 | 1 | Mar 18, 2025 |
| Cone-rod dystrophy 3 | 16 | Mar 18, 2025 |
| Cone-rod dystrophy 6 | 8 | Apr 21, 2025 |
| Cone-rod dystrophy 9 | 1 | Mar 18, 2025 |
| Cone-rod dystrophy and hearing loss 1 | 1 | Mar 18, 2025 |
| Cone-rod dystrophy and hearing loss 2 | 6 | Apr 21, 2025 |
| Cone-rod synaptic disorder, congenital nonprogressive | 4 | Mar 18, 2025 |
| Congenital absence of salivary gland | 1 | Apr 21, 2025 |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 6 | Apr 21, 2025 |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 3 | Mar 18, 2025 |
| Congenital afibrinogenemia | 13 | Apr 21, 2025 |
| Congenital amegakaryocytic thrombocytopenia 1 | 6 | Apr 21, 2025 |
| Congenital anomalies of kidney and urinary tract 2 | 3 | Apr 21, 2025 |
| Congenital anomalies of kidney and urinary tract 3 | 4 | Apr 21, 2025 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 16 | Apr 21, 2025 |
| Congenital bile acid synthesis defect 1 | 1 | Apr 21, 2025 |
| Congenital bile acid synthesis defect 3 | 1 | Mar 18, 2025 |
| Congenital bile acid synthesis defect 6 | 1 | Mar 18, 2025 |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 1 | Mar 18, 2025 |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 4 | Apr 21, 2025 |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 | Mar 18, 2025 |
| Congenital cerebellar hypoplasia | 3 | Apr 21, 2025 |
| Congenital contractural arachnodactyly | 9 | Apr 21, 2025 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 4 | Apr 21, 2025 |
| Congenital defect of folate absorption | 1 | Apr 21, 2025 |
| Congenital diarrhea 5 with tufting enteropathy | 4 | Apr 21, 2025 |
| Congenital diarrhea 6 | 4 | Apr 21, 2025 |
| Congenital diarrhea 7 with exudative enteropathy | 1 | Apr 21, 2025 |
| Congenital disorder of deglycosylation 1 | 2 | Mar 18, 2025 |
| Congenital disorder of deglycosylation 2 | 4 | Apr 21, 2025 |
| Congenital disorder of glycosylation type 1E | 1 | Mar 18, 2025 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 7 | Apr 21, 2025 |
| Congenital disorder of glycosylation, type IIw | 3 | Apr 21, 2025 |
| Congenital dyserythropoietic anemia type 4 | 1 | Apr 21, 2025 |
| Congenital dyserythropoietic anemia, type II | 4 | Apr 21, 2025 |
| Congenital factor V deficiency | 13 | Apr 21, 2025 |
| Congenital factor VII deficiency | 4 | Mar 18, 2025 |
| Congenital fibrosis of extraocular muscles | 1 | Mar 18, 2025 |
| Congenital fibrosis of extraocular muscles type 1 | 2 | Apr 21, 2025 |
| Congenital generalized lipodystrophy type 1 | 1 | Mar 18, 2025 |
| Congenital generalized lipodystrophy type 2 | 1 | Mar 18, 2025 |
| Congenital heart defects and ectodermal dysplasia | 3 | Apr 21, 2025 |
| Congenital heart defects and skeletal malformations syndrome | 3 | Mar 18, 2025 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Apr 21, 2025 |
| Congenital heart defects, multiple types, 2 | 2 | Apr 21, 2025 |
| Congenital heart defects, multiple types, 5 | 2 | Apr 21, 2025 |
| Congenital heart defects, multiple types, 6 | 5 | Mar 18, 2025 |
| Congenital heart defects, multiple types, 7 | 2 | Apr 21, 2025 |
| Congenital heart disease | 23 | Mar 18, 2025 |
| Congenital hereditary endothelial dystrophy of cornea | 7 | Apr 21, 2025 |
| Congenital hyperammonemia, type I | 8 | Apr 21, 2025 |
| Congenital hypothalamic hamartoma syndrome | 1 | Apr 21, 2025 |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 2 | Apr 21, 2025 |
| Congenital hypotrichosis with juvenile macular dystrophy | 2 | Mar 18, 2025 |
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 1 | Apr 21, 2025 |
| Congenital isolated adrenocorticotropic hormone deficiency | 1 | Mar 18, 2025 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 6 | Apr 21, 2025 |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 2 | Apr 21, 2025 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 1 | Mar 18, 2025 |
| Congenital microvillous atrophy | 3 | Apr 21, 2025 |
| Congenital multicore myopathy with external ophthalmoplegia | 32 | Apr 21, 2025 |
| Congenital muscular dystrophy due to LMNA mutation | 1 | Apr 21, 2025 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 4 | Apr 21, 2025 |
| Congenital myasthenic syndrome | 4 | Mar 18, 2025 |
| Congenital myasthenic syndrome 10 | 4 | Mar 18, 2025 |
| Congenital myasthenic syndrome 11 | 3 | Apr 21, 2025 |
| Congenital myasthenic syndrome 12 | 1 | Mar 18, 2025 |
| Congenital myasthenic syndrome 14 | 1 | Mar 18, 2025 |
| Congenital myasthenic syndrome 17 | 2 | Apr 21, 2025 |
| Congenital myasthenic syndrome 1A | 3 | Mar 18, 2025 |
| Congenital myasthenic syndrome 2A | 1 | Mar 18, 2025 |
| Congenital myasthenic syndrome 3A | 2 | Mar 18, 2025 |
| Congenital myasthenic syndrome 4A | 2 | Apr 21, 2025 |
| Congenital myasthenic syndrome 4B | 2 | Apr 21, 2025 |
| Congenital myasthenic syndrome 4C | 1 | Apr 21, 2025 |
| Congenital myasthenic syndrome 7 | 2 | Apr 21, 2025 |
| Congenital myasthenic syndrome 9 | 2 | Mar 18, 2025 |
| Congenital myopathy 10b, mild variant | 2 | Apr 21, 2025 |
| Congenital myopathy 23 | 1 | Apr 21, 2025 |
| Congenital myopathy 4A, autosomal dominant | 1 | Apr 21, 2025 |
| Congenital myopathy 4B, autosomal recessive | 1 | Apr 21, 2025 |
| Congenital myopathy with myasthenic-like onset | 1 | Mar 18, 2025 |
| Congenital myotonia, autosomal dominant form | 10 | Mar 18, 2025 |
| Congenital myotonia, autosomal recessive form | 5 | Mar 18, 2025 |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 1 | Apr 21, 2025 |
| Congenital plasminogen activator inhibitor type 1 deficiency | 4 | Apr 21, 2025 |
| Congenital pontocerebellar hypoplasia type 1 | 1 | Mar 18, 2025 |
| Congenital primary aphakia | 1 | Apr 21, 2025 |
| Congenital prothrombin deficiency | 5 | Apr 21, 2025 |
| Congenital reticular ichthyosiform erythroderma | 4 | Apr 21, 2025 |
| Congenital secretory diarrhea, chloride type | 1 | Mar 18, 2025 |
| Congenital secretory sodium diarrhea 8 | 1 | Mar 18, 2025 |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 4 | Apr 21, 2025 |
| Congenital stationary night blindness 1B | 5 | Apr 21, 2025 |
| Congenital stationary night blindness 1C | 2 | Mar 18, 2025 |
| Congenital stationary night blindness 1D | 1 | Mar 18, 2025 |
| Congenital stationary night blindness 1E | 7 | Apr 21, 2025 |
| Congenital stationary night blindness 1F | 1 | Mar 18, 2025 |
| Congenital stationary night blindness 1G | 1 | Apr 21, 2025 |
| Congenital stationary night blindness 1H | 1 | Apr 21, 2025 |
| Congenital stationary night blindness 2A | 1 | Mar 18, 2025 |
| Congenital stationary night blindness autosomal dominant 1 | 1 | Apr 21, 2025 |
| Congenital stationary night blindness autosomal dominant 2 | 5 | Apr 21, 2025 |
| Congenital stationary night blindness autosomal dominant 3 | 1 | Apr 21, 2025 |
| Congenital structural myopathy | 4 | Mar 18, 2025 |
| Congenital vertical talus | 1 | Apr 21, 2025 |
| Conotruncal heart malformations | 4 | Apr 21, 2025 |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 5 | Apr 21, 2025 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 5 | Apr 21, 2025 |
| Cornea plana 2 | 1 | Mar 18, 2025 |
| Corneal dystrophy, Fuchs endothelial, 3 | 1 | Apr 21, 2025 |
| Corneal dystrophy, Fuchs endothelial, 4 | 7 | Apr 21, 2025 |
| Corneal dystrophy, Fuchs endothelial, 6 | 1 | Apr 21, 2025 |
| Corneal dystrophy, Meesmann, 1 | 1 | Apr 21, 2025 |
| Corneal dystrophy, Meesmann, 2 | 3 | Apr 21, 2025 |
| Corneal dystrophy, lattice type 3A | 2 | Apr 21, 2025 |
| Corneal dystrophy-perceptive deafness syndrome | 8 | Apr 21, 2025 |
| Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 2 | Apr 21, 2025 |
| Cornelia de Lange syndrome 1 | 4 | Apr 21, 2025 |
| Cornelia de Lange syndrome 3 | 1 | Apr 21, 2025 |
| Cornelia de Lange syndrome 4 | 2 | Apr 21, 2025 |
| Cornelia de Lange syndrome 5 | 1 | Apr 21, 2025 |
| Cornelia de Lange syndrome 6 | 1 | Mar 18, 2025 |
| Coronary artery disease, autosomal dominant 2 | 7 | Apr 21, 2025 |
| Coronary artery disease, autosomal dominant, 1 | 2 | Apr 21, 2025 |
| Cortical dysplasia-focal epilepsy syndrome | 1 | Mar 18, 2025 |
| Corticosteroid-binding globulin deficiency | 4 | Apr 21, 2025 |
| Corticosterone methyloxidase type 2 deficiency | 1 | Mar 18, 2025 |
| Cowden syndrome | 16 | Mar 18, 2025 |
| Cowden syndrome 1 | 40 | Apr 21, 2025 |
| Cowden syndrome 7 | 2 | Apr 21, 2025 |
| Coxopodopatellar syndrome | 2 | Apr 21, 2025 |
| Cranioectodermal dysplasia 1 | 1 | Mar 18, 2025 |
| Cranioectodermal dysplasia 3 | 1 | Mar 18, 2025 |
| Cranioectodermal dysplasia 4 | 9 | Apr 21, 2025 |
| Craniofacial anomalies and anterior segment dysgenesis syndrome | 3 | Apr 21, 2025 |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 2 | Mar 18, 2025 |
| Craniofacial-deafness-hand syndrome | 1 | Apr 21, 2025 |
| Craniometaphyseal dysplasia, autosomal recessive | 3 | Apr 21, 2025 |
| Craniosynostosis and dental anomalies | 1 | Apr 21, 2025 |
| Crigler-Najjar syndrome type 1 | 9 | Apr 21, 2025 |
| Crigler-Najjar syndrome, type II | 9 | Apr 21, 2025 |
| Crohn’s Disease | 1 | Dec 8, 2022 |
| Crouzon syndrome | 2 | Apr 21, 2025 |
| Crouzon syndrome-acanthosis nigricans syndrome | 2 | Apr 21, 2025 |
| Cryohydrocytosis | 3 | Apr 21, 2025 |
| Cryptophthalmos syndrome | 5 | Mar 18, 2025 |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 2 | Apr 21, 2025 |
| Curly hair, ankyloblepharon, nail dysplasia syndrome | 1 | Apr 21, 2025 |
| Currarino triad | 1 | Apr 21, 2025 |
| Curry-Hall syndrome | 18 | Apr 21, 2025 |
| Curry-Jones syndrome | 1 | Apr 21, 2025 |
| Cutaneous porphyria | 4 | Apr 21, 2025 |
| Cutis laxa with osteodystrophy | 9 | Mar 18, 2025 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 2 | Mar 18, 2025 |
| Cutis laxa, autosomal dominant 1 | 1 | Mar 18, 2025 |
| Cutis laxa, autosomal dominant 2 | 4 | Apr 21, 2025 |
| Cutis laxa, autosomal dominant 3 | 1 | Mar 18, 2025 |
| Cutis laxa, autosomal recessive, type 1A | 4 | Apr 21, 2025 |
| Cutis laxa, autosomal recessive, type 1d | 1 | Apr 21, 2025 |
| Cystathioninuria | 1 | Mar 18, 2025 |
| Cystic fibrosis | 43 | Apr 21, 2025 |
| Cystinosis | 4 | Mar 18, 2025 |
| Cystinuria | 16 | Apr 21, 2025 |
| D-2-hydroxyglutaric aciduria 1 | 3 | Mar 18, 2025 |
| D-2-hydroxyglutaric aciduria 2 | 1 | Apr 21, 2025 |
| DCAF6-related condition | 1 | Mar 18, 2025 |
| DDX41-related hematologic malignancy predisposition syndrome | 4 | Mar 18, 2025 |
| DE SANCTIS-CACCHIONE SYNDROME | 11 | Apr 21, 2025 |
| DHDDS-CDG | 1 | Mar 18, 2025 |
| DICER1-related tumor predisposition | 17 | Mar 18, 2025 |
| DNA ligase IV deficiency | 2 | Apr 21, 2025 |
| DOORS syndrome | 4 | Apr 21, 2025 |
| DPAGT1-congenital disorder of glycosylation | 6 | Mar 18, 2025 |
| DPYD-related disorder | 4 | Mar 18, 2025 |
| DRD3-related disorder | 1 | Mar 18, 2025 |
| DRD4-related disorder | 2 | Mar 18, 2025 |
| DRD5-related disorder | 1 | Mar 18, 2025 |
| DRUG METABOLISM, ALTERED, CES1-RELATED | 2 | Apr 21, 2025 |
| Dalmatian hypouricemia | 1 | Mar 18, 2025 |
| DeSanto-Shinawi syndrome | 1 | Mar 18, 2025 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 2 | Apr 21, 2025 |
| Deafness, Y-linked 2 | 1 | Apr 21, 2025 |
| Deafness, congenital heart defects, and posterior embryotoxon | 4 | Apr 21, 2025 |
| Deafness-infertility syndrome | 6 | Apr 21, 2025 |
| Deeah syndrome | 1 | Mar 18, 2025 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 5 | Apr 21, 2025 |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 2 | Apr 21, 2025 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 4 | Apr 21, 2025 |
| Deficiency of alpha-mannosidase | 4 | Apr 21, 2025 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 5 | Apr 21, 2025 |
| Deficiency of beta-ureidopropionase | 3 | Mar 18, 2025 |
| Deficiency of butyryl-CoA dehydrogenase | 4 | Mar 18, 2025 |
| Deficiency of butyrylcholinesterase | 8 | Mar 18, 2025 |
| Deficiency of cytochrome-b5 reductase | 1 | Mar 18, 2025 |
| Deficiency of ferroxidase | 7 | Apr 21, 2025 |
| Deficiency of galactokinase | 2 | Apr 21, 2025 |
| Deficiency of guanidinoacetate methyltransferase | 3 | Mar 18, 2025 |
| Deficiency of hyaluronoglucosaminidase | 1 | Apr 21, 2025 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 4 | Apr 21, 2025 |
| Deficiency of iodide peroxidase | 4 | Apr 21, 2025 |
| Deficiency of isobutyryl-CoA dehydrogenase | 1 | Mar 18, 2025 |
| Deficiency of malonyl-CoA decarboxylase | 1 | Apr 21, 2025 |
| Deficiency of phosphoserine phosphatase | 1 | Apr 21, 2025 |
| Deficiency of steroid 11-beta-monooxygenase | 4 | Mar 18, 2025 |
| Deficiency of steroid 17-alpha-monooxygenase | 3 | Mar 18, 2025 |
| Deficiency of transaldolase | 1 | Mar 18, 2025 |
| Dehydrated hereditary stomatocytosis 2 | 2 | Apr 21, 2025 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 23 | Apr 21, 2025 |
| Dejerine-Sottas disease | 14 | Apr 21, 2025 |
| Delpire-McNeill syndrome | 4 | Apr 21, 2025 |
| Delta-beta-thalassemia | 1 | Mar 18, 2025 |
| Dent disease type 1 | 1 | Mar 31, 2021 |
| Dent disease type 2 | 1 | Apr 21, 2025 |
| Dentatorubral-pallidoluysian atrophy | 3 | Apr 21, 2025 |
| Dentici-Novelli neurodevelopmental syndrome | 1 | Apr 21, 2025 |
| Dentinogenesis imperfecta | 2 | Mar 18, 2025 |
| Dentinogenesis imperfecta type 2 | 1 | Mar 18, 2025 |
| Dermatofibrosis lenticularis disseminata | 4 | Apr 21, 2025 |
| Dermatopathia pigmentosa reticularis | 3 | Apr 21, 2025 |
| Desbuquois dysplasia 2 | 1 | Apr 21, 2025 |
| Desmin-related myofibrillar myopathy | 4 | Apr 21, 2025 |
| Desmoid disease, hereditary | 86 | Apr 21, 2025 |
| Desmoid tumor | 1 | Mar 31, 2021 |
| Desmosterolosis | 1 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy | 11 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy 101 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy 104 | 1 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy 106 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy 6B | 6 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy 92 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 11 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 13 | 2 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 14 | 3 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 16 | 4 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 17 | 3 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 18 | 5 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 23 | 1 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy, 26 | 3 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 27 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 28 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 3 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 30 | 2 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 34 | 1 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy, 35 | 2 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 38 | 1 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy, 4 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 40 | 1 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy, 42 | 1 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy, 43 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 44 | 3 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 46 | 3 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 48 | 1 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy, 5 | 3 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 51 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 52 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 53 | 1 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy, 54 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 57 | 3 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 58 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 59 | 2 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 60 | 1 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy, 62 | 2 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 63 | 1 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy, 64 | 3 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 66 | 2 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 68 | 2 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy, 7 | 3 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 70 | 1 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 75 | 2 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 77 | 3 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 84 | 2 | Apr 21, 2025 |
| Developmental and epileptic encephalopathy, 86 | 1 | Mar 18, 2025 |
| Developmental and epileptic encephalopathy, 9 | 1 | Apr 21, 2025 |
| Developmental delay with autism spectrum disorder and gait instability | 1 | Mar 18, 2025 |
| Developmental delay with or without dysmorphic facies and autism | 4 | Apr 21, 2025 |
| Developmental delay with or without epilepsy | 3 | Apr 21, 2025 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | 1 | Mar 18, 2025 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 6 | Apr 21, 2025 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 5 | Apr 21, 2025 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 1 | Apr 21, 2025 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 | Mar 18, 2025 |
| Developmental dysplasia of the hip 3 | 3 | Apr 21, 2025 |
| Diabetes mellitus, ketosis-prone | 2 | Apr 21, 2025 |
| Diabetes mellitus, permanent neonatal 2 | 5 | Mar 18, 2025 |
| Diabetes mellitus, permanent neonatal 4 | 1 | Mar 18, 2025 |
| Diabetes mellitus, transient neonatal, 1 | 1 | Apr 21, 2025 |
| Diabetes mellitus, transient neonatal, 3 | 5 | Mar 18, 2025 |
| Diamond-Blackfan anemia | 3 | Mar 18, 2025 |
| Diamond-Blackfan anemia 13 | 1 | Apr 21, 2025 |
| Diamond-Blackfan anemia 18 | 1 | Apr 21, 2025 |
| Diamond-Blackfan anemia 3 | 1 | Apr 21, 2025 |
| Diamond-Blackfan anemia 6 | 1 | Apr 21, 2025 |
| Diaphragmatic hernia 3 | 9 | Apr 21, 2025 |
| Diaphyseal medullary stenosis-bone malignancy syndrome | 2 | Apr 21, 2025 |
| Diarrhea 9 | 2 | Apr 21, 2025 |
| Dias-Logan syndrome | 2 | Apr 21, 2025 |
| Diastrophic dysplasia | 6 | Apr 21, 2025 |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 2 | Apr 21, 2025 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 | Mar 18, 2025 |
| Dihydropteridine reductase deficiency | 1 | Mar 18, 2025 |
| Dihydropyrimidinase deficiency | 3 | Mar 18, 2025 |
| Dihydropyrimidine dehydrogenase deficiency | 3 | Mar 18, 2025 |
| Dilated cardiomyopathy 1A | 3 | Apr 21, 2025 |
| Dilated cardiomyopathy 1BB | 3 | Mar 18, 2025 |
| Dilated cardiomyopathy 1C | 4 | Apr 21, 2025 |
| Dilated cardiomyopathy 1CC | 2 | Apr 21, 2025 |
| Dilated cardiomyopathy 1D | 2 | Apr 21, 2025 |
| Dilated cardiomyopathy 1DD | 7 | Apr 21, 2025 |
| Dilated cardiomyopathy 1E | 6 | Apr 21, 2025 |
| Dilated cardiomyopathy 1EE | 7 | Apr 21, 2025 |
| Dilated cardiomyopathy 1G | 135 | Apr 21, 2025 |
| Dilated cardiomyopathy 1GG | 36 | Apr 21, 2025 |
| Dilated cardiomyopathy 1HH | 1 | Mar 18, 2025 |
| Dilated cardiomyopathy 1I | 4 | Apr 21, 2025 |
| Dilated cardiomyopathy 1JJ | 3 | Apr 21, 2025 |
| Dilated cardiomyopathy 1KK | 5 | Apr 21, 2025 |
| Dilated cardiomyopathy 1M | 1 | Mar 18, 2025 |
| Dilated cardiomyopathy 1NN | 3 | Apr 21, 2025 |
| Dilated cardiomyopathy 1S | 8 | Apr 21, 2025 |
| Dilated cardiomyopathy 1U | 1 | Apr 21, 2025 |
| Dilated cardiomyopathy 1V | 2 | Apr 21, 2025 |
| Dilated cardiomyopathy 1W | 2 | Apr 21, 2025 |
| Dilated cardiomyopathy 1X | 1 | Apr 21, 2025 |
| Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 3 | Apr 21, 2025 |
| Dimethylglycine dehydrogenase deficiency | 2 | Apr 21, 2025 |
| Disseminated superficial actinic porokeratosis | 1 | Mar 18, 2025 |
| Distal arthrogryposis type 2B1 | 1 | Mar 18, 2025 |
| Distal arthrogryposis type 5D | 2 | Mar 18, 2025 |
| Distal myopathy with anterior tibial onset | 4 | Mar 18, 2025 |
| Distal myopathy with posterior leg and anterior hand involvement | 12 | Apr 21, 2025 |
| Distal myopathy with vocal cord weakness | 2 | Mar 18, 2025 |
| Distichiasis-lymphedema syndrome | 2 | Apr 21, 2025 |
| Dominant beta-thalassemia | 6 | Apr 21, 2025 |
| Dominant hypophosphatemia with nephrolithiasis or osteoporosis | 5 | Mar 18, 2025 |
| Donnai-Barrow syndrome | 23 | Apr 21, 2025 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 3 | Apr 21, 2025 |
| Dowling-Degos disease 1 | 5 | Apr 21, 2025 |
| Dowling-Degos disease 4 | 1 | Apr 21, 2025 |
| Doyne honeycomb retinal dystrophy | 1 | Apr 21, 2025 |
| Duane retraction syndrome 2 | 1 | Mar 18, 2025 |
| Duane-radial ray syndrome | 6 | Apr 21, 2025 |
| Dubin-Johnson syndrome | 5 | Apr 21, 2025 |
| Dyschromatosis universalis hereditaria 1 | 2 | Apr 21, 2025 |
| Dyschromatosis universalis hereditaria 3 | 2 | Mar 18, 2025 |
| Dyskeratosis congenita | 5 | Mar 18, 2025 |
| Dyskeratosis congenita, autosomal dominant 3 | 1 | Mar 18, 2025 |
| Dyskeratosis congenita, autosomal dominant 6 | 1 | Apr 21, 2025 |
| Dyskeratosis congenita, autosomal recessive 5 | 10 | Apr 21, 2025 |
| Dyskeratosis congenita, autosomal recessive 6 | 3 | Apr 21, 2025 |
| Dyskinesia with orofacial involvement, autosomal dominant | 6 | Apr 21, 2025 |
| Dyskinesia with orofacial involvement, autosomal recessive | 1 | Apr 21, 2025 |
| Dyslexia, susceptibility to, 1 | 1 | Apr 21, 2025 |
| Dysosteosclerosis | 1 | Mar 18, 2025 |
| Dystonia 16 | 2 | Mar 18, 2025 |
| Dystonia 24 | 5 | Mar 18, 2025 |
| Dystonia 25 | 1 | Apr 21, 2025 |
| Dystonia 27 | 22 | Apr 21, 2025 |
| Dystonia 28, childhood-onset | 6 | Apr 21, 2025 |
| Dystonia 31 | 3 | Mar 18, 2025 |
| Dystonia 33 | 1 | Apr 21, 2025 |
| Dystonia 5 | 3 | Apr 21, 2025 |
| Dystonia 9 | 1 | Apr 21, 2025 |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 2 | Apr 21, 2025 |
| EAST syndrome | 1 | Apr 21, 2025 |
| EEM syndrome | 2 | Mar 18, 2025 |
| EHBP1-related disorder | 1 | Mar 18, 2025 |
| EYS-related retinopathy | 3 | Mar 18, 2025 |
| Early-onset Parkinson disease 20 | 1 | Mar 18, 2025 |
| Early-onset anterior polar cataract | 2 | Mar 18, 2025 |
| Early-onset myopathy with fatal cardiomyopathy | 138 | Apr 21, 2025 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 1 | Mar 18, 2025 |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 1 | Mar 18, 2025 |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 5 | Apr 21, 2025 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 5 | Apr 21, 2025 |
| Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | 1 | Apr 21, 2025 |
| Ectodermal dysplasia 13, hair/tooth type | 1 | Mar 18, 2025 |
| Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | 5 | Mar 18, 2025 |
| Ectodermal dysplasia 4, hair/nail type | 1 | Apr 21, 2025 |
| Ectodermal dysplasia 7, hair/nail type | 2 | Apr 21, 2025 |
| Ectodermal dysplasia and immunodeficiency 1 | 2 | Apr 21, 2025 |
| Ectodermal dysplasia and immunodeficiency 2 | 2 | Apr 21, 2025 |
| Ectopia lentis 1, isolated, autosomal dominant | 15 | Apr 21, 2025 |
| Ectopia lentis 2, isolated, autosomal recessive | 3 | Mar 18, 2025 |
| Ectopia lentis et pupillae | 3 | Mar 18, 2025 |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 3 | Apr 21, 2025 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 16 | Apr 21, 2025 |
| Ehlers-Danlos syndrome, arthrochalasia type | 4 | Mar 18, 2025 |
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | 1 | Apr 21, 2025 |
| Ehlers-Danlos syndrome, cardiac valvular type | 1 | Apr 21, 2025 |
| Ehlers-Danlos syndrome, classic type | 11 | Mar 18, 2025 |
| Ehlers-Danlos syndrome, classic-like, 3 | 1 | Apr 21, 2025 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 10 | Apr 21, 2025 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 5 | Apr 21, 2025 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 1 | Mar 18, 2025 |
| Ehlers-Danlos syndrome, musculocontractural type 2 | 1 | Mar 18, 2025 |
| Ehlers-Danlos syndrome, periodontal type 1 | 1 | Mar 18, 2025 |
| Ehlers-Danlos syndrome, periodontal type 2 | 1 | Mar 18, 2025 |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 1 | Apr 21, 2025 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 1 | 1 | Mar 18, 2025 |
| Ehlers-Danlos syndrome, type 4 | 7 | Mar 18, 2025 |
| Eichsfeld type congenital muscular dystrophy | 7 | Apr 21, 2025 |
| Eiken syndrome | 3 | Apr 21, 2025 |
| Elliptocytosis 1 | 2 | Apr 21, 2025 |
| Elliptocytosis 2 | 11 | Apr 21, 2025 |
| Elliptocytosis 3 | 7 | Apr 21, 2025 |
| Ellis-van Creveld syndrome | 20 | Apr 21, 2025 |
| Emery-Dreifuss muscular dystrophy 1, X-linked | 1 | Apr 21, 2025 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 3 | Apr 21, 2025 |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 1 | Apr 21, 2025 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 19 | Apr 21, 2025 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 13 | Apr 21, 2025 |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 3 | Apr 21, 2025 |
| Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | 4 | Apr 21, 2025 |
| Encephalocraniocutaneous lipomatosis | 5 | Apr 21, 2025 |
| Encephalopathy due to GLUT1 deficiency | 1 | Apr 21, 2025 |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 1 | Apr 21, 2025 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | 3 | Apr 21, 2025 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | 3 | Apr 21, 2025 |
| Encephalopathy, acute, infection-induced, susceptibility to, 9 | 1 | Mar 18, 2025 |
| Encephalopathy, porphyria-related | 3 | Apr 21, 2025 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 1 | Apr 21, 2025 |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 7 | Apr 21, 2025 |
| Endocrine-cerebro-osteodysplasia syndrome | 3 | Mar 18, 2025 |
| Endometrial carcinoma | 465 | Apr 21, 2025 |
| Enhanced S-cone syndrome | 4 | Apr 21, 2025 |
| Enterokinase deficiency | 4 | Mar 18, 2025 |
| Eosinophil peroxidase deficiency | 1 | Mar 18, 2025 |
| Epidermal nevus | 2 | Apr 21, 2025 |
| Epidermodysplasia verruciformis, susceptibility to, 3 | 1 | Mar 18, 2025 |
| Epidermolysis bullosa pruriginosa | 2 | Mar 18, 2025 |
| Epidermolysis bullosa simplex 1A, generalized severe | 8 | Apr 21, 2025 |
| Epidermolysis bullosa simplex 1C, localized | 3 | Apr 21, 2025 |
| Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 3 | Apr 21, 2025 |
| Epidermolysis bullosa simplex 2A, generalized severe | 5 | Apr 21, 2025 |
| Epidermolysis bullosa simplex 2B, generalized intermediate | 5 | Apr 21, 2025 |
| Epidermolysis bullosa simplex 2C, localized | 5 | Apr 21, 2025 |
| Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive | 5 | Apr 21, 2025 |
| Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive | 1 | Mar 18, 2025 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 39 | Apr 21, 2025 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 38 | Apr 21, 2025 |
| Epidermolysis bullosa simplex due to plakophilin deficiency | 1 | Apr 21, 2025 |
| Epidermolysis bullosa simplex with migratory circinate erythema | 5 | Apr 21, 2025 |
| Epidermolysis bullosa simplex with mottled pigmentation | 5 | Apr 21, 2025 |
| Epidermolysis bullosa simplex with nail dystrophy | 38 | Apr 21, 2025 |
| Epidermolysis bullosa simplex, Koebner type | 3 | Apr 21, 2025 |
| Epidermolysis bullosa simplex, Ogna type | 38 | Apr 21, 2025 |
| Epidermolysis bullosa, junctional 2A, intermediate | 15 | Apr 21, 2025 |
| Epidermolysis bullosa, junctional 2B, severe | 15 | Apr 21, 2025 |
| Epidermolysis bullosa, junctional 3A, intermediate | 8 | Apr 21, 2025 |
| Epidermolysis bullosa, junctional 3B, severe | 8 | Apr 21, 2025 |
| Epidermolysis bullosa, junctional 4, intermediate | 5 | Apr 21, 2025 |
| Epidermolysis bullosa, junctional 5A, intermediate | 8 | Apr 21, 2025 |
| Epidermolysis bullosa, junctional 6, with pyloric atresia | 5 | Apr 21, 2025 |
| Epidermolytic hyperkeratosis 2A, autosomal dominant | 4 | Apr 21, 2025 |
| Epidermolytic hyperkeratosis 2B, autosomal recessive | 4 | Apr 21, 2025 |
| Epidermolytic palmoplantar keratoderma, 1 | 5 | Apr 21, 2025 |
| Epilepsy | 11 | Mar 18, 2025 |
| Epilepsy, childhood absence, susceptibility to, 5 | 1 | Apr 21, 2025 |
| Epilepsy, early-onset, with or without developmental delay | 8 | Apr 21, 2025 |
| Epilepsy, familial adult myoclonic, 2 | 1 | Apr 21, 2025 |
| Epilepsy, familial adult myoclonic, 4 | 3 | Apr 21, 2025 |
| Epilepsy, familial focal, with variable foci 3 | 3 | Apr 21, 2025 |
| Epilepsy, familial focal, with variable foci 4 | 2 | Apr 21, 2025 |
| Epilepsy, familial temporal lobe, 1 | 11 | Apr 21, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 1 | Apr 21, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Mar 18, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 1 | Apr 21, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 16 | 2 | Apr 21, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 18 | 2 | Apr 21, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 1 | Mar 18, 2025 |
| Epilepsy, juvenile absence, susceptibility to, 1 | 2 | Apr 21, 2025 |
| Epilepsy, progressive myoclonic, 1B | 1 | Apr 21, 2025 |
| Epiphyseal dysplasia, multiple, 2 | 1 | Mar 18, 2025 |
| Epiphyseal dysplasia, multiple, 6 | 1 | Mar 18, 2025 |
| Episodic ataxia type 2 | 1 | Mar 18, 2025 |
| Episodic ataxia type 6 | 1 | Apr 21, 2025 |
| Episodic ataxia, type 9 | 1 | Apr 21, 2025 |
| Episodic pain syndrome, familial, 2 | 9 | Apr 21, 2025 |
| Epithelial basement membrane dystrophy | 2 | Apr 21, 2025 |
| Epithelial recurrent erosion dystrophy | 5 | Apr 21, 2025 |
| Erythrocytosis, familial, 4 | 3 | Apr 21, 2025 |
| Erythrocytosis, familial, 6 | 8 | Apr 21, 2025 |
| Erythrokeratodermia variabilis | 1 | Mar 18, 2025 |
| Erythrokeratodermia variabilis et progressiva 1 | 4 | Apr 21, 2025 |
| Erythrokeratodermia variabilis et progressiva 2 | 5 | Apr 21, 2025 |
| Erythrokeratodermia variabilis et progressiva 3 | 3 | Apr 21, 2025 |
| Erythrokeratodermia variabilis et progressiva 5 | 3 | Apr 21, 2025 |
| Erythrokeratodermia variabilis et progressiva 6 | 6 | Apr 21, 2025 |
| Erythroleukemia, familial, susceptibility to | 2 | Apr 21, 2025 |
| Essential fructosuria | 2 | Apr 21, 2025 |
| Essential hypertension, genetic | 2 | Apr 21, 2025 |
| Essential pentosuria | 1 | Apr 21, 2025 |
| Estrogen resistance syndrome | 2 | Apr 21, 2025 |
| Ethylmalonic encephalopathy | 3 | Apr 21, 2025 |
| Euthyroid goiter | 17 | Apr 21, 2025 |
| Even-plus syndrome | 3 | Apr 21, 2025 |
| Exercise-induced hyperinsulinism | 1 | Apr 21, 2025 |
| Extraskeletal myxoid chondrosarcoma | 1 | Apr 21, 2025 |
| Exudative vitreoretinopathy 1 | 14 | Apr 21, 2025 |
| Exudative vitreoretinopathy 4 | 13 | Apr 21, 2025 |
| Exudative vitreoretinopathy 5 | 1 | Apr 21, 2025 |
| Exudative vitreoretinopathy 6 | 3 | Apr 21, 2025 |
| FANCM Fanconi-like genomic instability disorder | 1 | Mar 18, 2025 |
| FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 | 1 | Apr 21, 2025 |
| FAT1-related disorder | 20 | Apr 21, 2025 |
| FCGR1A-related disorder | 1 | Apr 21, 2025 |
| FG syndrome 1 | 2 | Apr 21, 2025 |
| FG syndrome 2 | 4 | Apr 21, 2025 |
| FGFR4-related disorder | 2 | Apr 21, 2025 |
| Fabry disease | 2 | Apr 21, 2025 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 1 | Apr 21, 2025 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 133 | Apr 21, 2025 |
| Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 5 | Mar 18, 2025 |
| Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | 2 | Apr 21, 2025 |
| Facioscapulohumeral muscular dystrophy 2 | 4 | Apr 21, 2025 |
| Factor I deficiency | 1 | Mar 18, 2025 |
| Factor XII deficiency disease | 3 | Mar 18, 2025 |
| Factor XIII, A subunit, deficiency of | 6 | Apr 21, 2025 |
| Familial Mediterranean fever | 17 | Apr 21, 2025 |
| Familial Mediterranean fever, autosomal dominant | 17 | Apr 21, 2025 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 4 | Apr 21, 2025 |
| Familial acute necrotizing encephalopathy | 6 | Apr 21, 2025 |
| Familial adenomatous polyposis 1 | 113 | Apr 21, 2025 |
| Familial adenomatous polyposis 2 | 104 | Apr 21, 2025 |
| Familial adenomatous polyposis 3 | 36 | Apr 21, 2025 |
| Familial adenomatous polyposis 4 | 141 | Apr 21, 2025 |
| Familial amyloid nephropathy with urticaria AND deafness | 2 | Mar 18, 2025 |
| Familial benign pemphigus | 1 | Mar 18, 2025 |
| Familial cancer of breast | 1066 | Apr 21, 2025 |
| Familial cavitary optic disk anomaly | 4 | Apr 21, 2025 |
| Familial cold autoinflammatory syndrome 1 | 2 | Mar 18, 2025 |
| Familial cold autoinflammatory syndrome 2 | 5 | Apr 21, 2025 |
| Familial cold autoinflammatory syndrome 3 | 4 | Apr 21, 2025 |
| Familial cold autoinflammatory syndrome 4 | 3 | Apr 21, 2025 |
| Familial colorectal cancer | 4 | Nov 9, 2020 |
| Familial colorectal cancer type X | 286 | Mar 18, 2025 |
| Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 1 | Apr 21, 2025 |
| Familial digital arthropathy-brachydactyly | 1 | Apr 21, 2025 |
| Familial dysautonomia | 1 | Apr 21, 2025 |
| Familial episodic pain syndrome with predominantly lower limb involvement | 8 | Apr 21, 2025 |
| Familial episodic pain syndrome with predominantly upper body involvement | 3 | Apr 21, 2025 |
| Familial gestational hyperthyroidism | 4 | Apr 21, 2025 |
| Familial hemophagocytic lymphohistiocytosis 2 | 10 | Apr 21, 2025 |
| Familial hemophagocytic lymphohistiocytosis 3 | 6 | Apr 21, 2025 |
| Familial hyperaldosteronism type III | 1 | Apr 21, 2025 |
| Familial hyperprolactinemia | 3 | Apr 21, 2025 |
| Familial hyperthyroidism due to mutations in TSH receptor | 4 | Apr 21, 2025 |
| Familial hypobetalipoproteinemia 1 | 1 | Mar 18, 2025 |
| Familial hypobetalipoproteinemia 2 | 1 | Mar 18, 2025 |
| Familial hypocalciuric hypercalcemia 1 | 2 | Mar 18, 2025 |
| Familial hypokalemia-hypomagnesemia | 7 | Apr 21, 2025 |
| Familial idiopathic steroid-resistant nephrotic syndrome | 1 | Mar 18, 2025 |
| Familial infantile bilateral striatal necrosis | 3 | Apr 21, 2025 |
| Familial infantile myasthenia | 2 | Mar 18, 2025 |
| Familial infantile myoclonic epilepsy | 4 | Apr 21, 2025 |
| Familial isolated arrhythmogenic right ventricular dysplasia | 2 | Mar 18, 2025 |
| Familial isolated deficiency of vitamin E | 1 | Apr 21, 2025 |
| Familial juvenile hyperuricemic nephropathy type 1 | 5 | Apr 21, 2025 |
| Familial juvenile hyperuricemic nephropathy type 2 | 2 | Apr 21, 2025 |
| Familial medullary thyroid carcinoma | 26 | Apr 21, 2025 |
| Familial melanoma | 8 | Mar 18, 2025 |
| Familial meningioma | 42 | Apr 21, 2025 |
| Familial multiple polyposis syndrome | 32 | Nov 7, 2024 |
| Familial ovarian cancer | 133 | Mar 18, 2025 |
| Familial pancreatic carcinoma | 165 | Apr 21, 2025 |
| Familial partial lipodystrophy, Dunnigan type | 3 | Apr 21, 2025 |
| Familial patent arterial duct | 1 | Mar 18, 2025 |
| Familial porphyria cutanea tarda | 3 | Apr 21, 2025 |
| Familial prostate cancer | 135 | Apr 21, 2025 |
| Familial pulmonary capillary hemangiomatosis | 4 | Mar 18, 2025 |
| Familial renal glucosuria | 4 | Apr 21, 2025 |
| Familial scaphocephaly syndrome, McGillivray type | 2 | Apr 21, 2025 |
| Familial sleep-related hypermotor epilepsy | 1 | Mar 18, 2025 |
| Familial spontaneous pneumothorax | 11 | Apr 21, 2025 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 2 | Mar 18, 2025 |
| Familial temporal lobe epilepsy 7 | 9 | Apr 21, 2025 |
| Familial temporal lobe epilepsy 8 | 1 | Apr 21, 2025 |
| Familial thoracic aortic aneurysm and aortic dissection | 6 | Mar 18, 2025 |
| Familial thyroid dyshormonogenesis | 17 | Mar 18, 2025 |
| Familial ventricular tachycardia | 1 | Apr 21, 2025 |
| Familial visceral amyloidosis, Ostertag type | 4 | Apr 21, 2025 |
| Fanconi anemia | 2 | Mar 18, 2025 |
| Fanconi anemia complementation group B | 1 | Apr 21, 2025 |
| Fanconi anemia complementation group C | 36 | Apr 21, 2025 |
| Fanconi anemia complementation group D1 | 34 | Apr 21, 2025 |
| Fanconi anemia complementation group E | 3 | Apr 21, 2025 |
| Fanconi anemia complementation group F | 3 | Apr 21, 2025 |
| Fanconi anemia complementation group G | 4 | Apr 21, 2025 |
| Fanconi anemia complementation group J | 11 | Apr 21, 2025 |
| Fanconi anemia complementation group N | 56 | Apr 21, 2025 |
| Fanconi anemia complementation group O | 22 | Apr 21, 2025 |
| Fanconi anemia complementation group P | 2 | Mar 18, 2025 |
| Fanconi anemia complementation group Q | 6 | Apr 21, 2025 |
| Fanconi anemia complementation group U | 1 | Apr 21, 2025 |
| Fanconi anemia, complementation group S | 268 | Apr 21, 2025 |
| Fanconi anemia, complementation group W | 2 | Apr 21, 2025 |
| Fanconi renotubular syndrome 2 | 3 | Apr 21, 2025 |
| Fanconi renotubular syndrome 3 | 3 | Apr 21, 2025 |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 | Apr 21, 2025 |
| Fanconi renotubular syndrome 5 | 3 | Apr 21, 2025 |
| Fanconi-Bickel syndrome | 2 | Apr 21, 2025 |
| Farber lipogranulomatosis | 1 | Mar 18, 2025 |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 2 | Apr 21, 2025 |
| Fatty acyl-CoA reductase 1 deficiency | 1 | Apr 21, 2025 |
| Febrile seizures, familial, 4 | 2 | Apr 21, 2025 |
| Feingold syndrome type 1 | 4 | Apr 21, 2025 |
| Female infertility due to zona pellucida defect | 2 | Mar 18, 2025 |
| Fetal akinesia deformation sequence 1 | 2 | Mar 18, 2025 |
| Fetal akinesia deformation sequence 2 | 3 | Apr 21, 2025 |
| Fetal akinesia deformation sequence 3 | 1 | Mar 18, 2025 |
| Fetal akinesia deformation sequence 4 | 1 | Apr 21, 2025 |
| Fibrochondrogenesis 1 | 1 | Mar 18, 2025 |
| Fibrochondrogenesis 2 | 2 | Apr 21, 2025 |
| Fibromuscular dysplasia, multifocal | 1 | Mar 18, 2025 |
| Fibrous dysplasia of jaw | 5 | Apr 21, 2025 |
| Finnish congenital nephrotic syndrome | 6 | Apr 21, 2025 |
| Finnish type amyloidosis | 2 | Mar 18, 2025 |
| Finnish upper limb-onset distal myopathy | 1 | Apr 21, 2025 |
| Fish-eye disease | 1 | Apr 21, 2025 |
| Fleck corneal dystrophy | 5 | Apr 21, 2025 |
| Floating-Harbor syndrome | 5 | Apr 21, 2025 |
| Focal dermal hypoplasia | 1 | Apr 21, 2025 |
| Focal epilepsy | 5 | Mar 18, 2025 |
| Focal facial dermal dysplasia type IV | 1 | Mar 18, 2025 |
| Focal segmental glomerulosclerosis 1 | 1 | Mar 18, 2025 |
| Focal segmental glomerulosclerosis 2 | 3 | Apr 21, 2025 |
| Focal segmental glomerulosclerosis 4, susceptibility to | 4 | Mar 18, 2025 |
| Focal segmental glomerulosclerosis 5 | 2 | Apr 21, 2025 |
| Focal segmental glomerulosclerosis 6 | 1 | Apr 21, 2025 |
| Focal segmental glomerulosclerosis 7 | 3 | Apr 21, 2025 |
| Focal segmental glomerulosclerosis 8 | 4 | Mar 18, 2025 |
| Focal segmental glomerulosclerosis 9 | 4 | Apr 21, 2025 |
| Focal segmental glomerulosclerosis, susceptibility to | 1 | Dec 8, 2022 |
| Fontaine progeroid syndrome | 1 | Apr 21, 2025 |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 4 | Apr 21, 2025 |
| Fragile X syndrome | 3 | Apr 21, 2025 |
| Fragile X-associated tremor/ataxia syndrome | 2 | Apr 21, 2025 |
| Fraser syndrome 1 | 29 | Apr 21, 2025 |
| Fraser syndrome 2 | 14 | Apr 21, 2025 |
| Fraser syndrome 3 | 1 | Apr 21, 2025 |
| Free sialic acid storage disease | 1 | Mar 18, 2025 |
| Freeman-Sheldon syndrome | 5 | Apr 21, 2025 |
| Friedreich ataxia 1 | 2 | Mar 18, 2025 |
| Frontometaphyseal dysplasia 1 | 4 | Apr 21, 2025 |
| Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 1 | Mar 18, 2025 |
| Frontotemporal dementia | 2 | Apr 21, 2025 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 | Mar 18, 2025 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 4 | Apr 21, 2025 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 3 | Apr 21, 2025 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 2 | Apr 21, 2025 |
| Fructose-biphosphatase deficiency | 6 | Apr 21, 2025 |
| Fuchs' endothelial dystrophy | 4 | Mar 18, 2025 |
| Fucosidosis | 1 | Apr 21, 2025 |
| Fuhrmann syndrome | 2 | Apr 21, 2025 |
| Fumarase deficiency | 19 | Apr 21, 2025 |
| GAPO syndrome | 1 | Mar 18, 2025 |
| GEN1-related disorder | 9 | Apr 21, 2025 |
| GM1 gangliosidosis type 2 | 3 | Apr 21, 2025 |
| GM1 gangliosidosis type 3 | 3 | Apr 21, 2025 |
| GM3 synthase deficiency | 1 | Apr 21, 2025 |
| GNE myopathy | 4 | Apr 21, 2025 |
| GPD2-related disorder | 1 | Mar 18, 2025 |
| GPR89B-related condition | 1 | Mar 18, 2025 |
| GTP cyclohydrolase I deficiency with hyperphenylalaninemia | 3 | Apr 21, 2025 |
| Gabriele de Vries syndrome | 1 | Apr 21, 2025 |
| Galactosemia | 1 | Mar 18, 2025 |
| Galactosylceramide beta-galactosidase deficiency | 8 | Apr 21, 2025 |
| Galloway-Mowat syndrome | 1 | Mar 18, 2025 |
| Galloway-Mowat syndrome 3 | 2 | Mar 18, 2025 |
| Galloway-Mowat syndrome 4 | 1 | Mar 18, 2025 |
| Galloway-Mowat syndrome 5 | 1 | Apr 21, 2025 |
| Galloway-Mowat syndrome 6 | 1 | Mar 18, 2025 |
| Gardner syndrome | 6 | Mar 18, 2025 |
| Gastric adenocarcinoma and proximal polyposis of the stomach | 16 | Apr 21, 2025 |
| Gastric cancer | 71 | Apr 21, 2025 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 3 | Apr 21, 2025 |
| Gastrointestinal defects and immunodeficiency syndrome 2 | 1 | Mar 18, 2025 |
| Gastrointestinal stromal tumor | 34 | Apr 21, 2025 |
| Gaucher disease | 7 | Mar 18, 2025 |
| Geleophysic dysplasia 1 | 3 | Mar 18, 2025 |
| Geleophysic dysplasia 2 | 15 | Apr 21, 2025 |
| Geleophysic dysplasia 3 | 1 | Apr 21, 2025 |
| Generalized epilepsy with febrile seizures plus, type 1 | 1 | Apr 21, 2025 |
| Generalized epilepsy with febrile seizures plus, type 2 | 7 | Apr 21, 2025 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 3 | Apr 21, 2025 |
| Generalized juvenile polyposis/juvenile polyposis coli | 9 | Mar 18, 2025 |
| Genitopatellar syndrome | 2 | Apr 21, 2025 |
| Genitourinary and/or brain malformation syndrome | 1 | Apr 21, 2025 |
| Germ cell tumor of testis | 36 | Apr 21, 2025 |
| Geroderma osteodysplastica | 1 | Mar 18, 2025 |
| Ghosal hematodiaphyseal dysplasia | 2 | Apr 21, 2025 |
| Giant axonal neuropathy 1 | 2 | Apr 21, 2025 |
| Gigantism | 1 | Mar 18, 2025 |
| Gilbert syndrome | 9 | Apr 21, 2025 |
| Gillespie syndrome | 5 | Apr 21, 2025 |
| Gingival fibromatosis-hypertrichosis syndrome | 1 | Mar 18, 2025 |
| Glanzmann thrombasthenia | 1 | Mar 18, 2025 |
| Glanzmann thrombasthenia 1 | 11 | Apr 21, 2025 |
| Glanzmann thrombasthenia 2 | 2 | Apr 21, 2025 |
| Glaucoma 1, open angle, A | 4 | Apr 21, 2025 |
| Glaucoma 1, open angle, G | 3 | Apr 21, 2025 |
| Glaucoma 1, open angle, H | 1 | Apr 21, 2025 |
| Glaucoma 3, primary congenital, D | 3 | Apr 21, 2025 |
| Glaucoma 3, primary congenital, E | 7 | Apr 21, 2025 |
| Glaucoma 3, primary infantile, B | 14 | Apr 21, 2025 |
| Glaucoma 3A | 4 | Mar 18, 2025 |
| Glioma susceptibility 1 | 4 | Apr 21, 2025 |
| Glioma susceptibility 2 | 20 | Apr 21, 2025 |
| Glioma susceptibility 3 | 34 | Apr 21, 2025 |
| Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | 16 | Apr 21, 2025 |
| Global developmental delay with or without impaired intellectual development | 10 | Apr 21, 2025 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 1 | Apr 21, 2025 |
| Glomerulopathy with fibronectin deposits 2 | 7 | Apr 21, 2025 |
| Glomuvenous malformation | 2 | Apr 21, 2025 |
| Glucocorticoid deficiency 1 | 1 | Apr 21, 2025 |
| Glucocorticoid deficiency 5 | 2 | Apr 21, 2025 |
| Glucocorticoid deficiency with achalasia | 7 | Apr 21, 2025 |
| Glucocorticoid resistance | 2 | Apr 21, 2025 |
| Glucose-6-phosphate transport defect | 3 | Apr 21, 2025 |
| Glutamate formiminotransferase deficiency | 2 | Mar 18, 2025 |
| Glutamate pyruvate transaminase 2 deficiency | 1 | Apr 21, 2025 |
| Glutaric aciduria, type 1 | 9 | Apr 21, 2025 |
| Glutaryl-CoA oxidase deficiency | 5 | Apr 21, 2025 |
| Glutathione synthetase deficiency with 5-oxoprolinuria | 4 | Apr 21, 2025 |
| Glutathione synthetase deficiency without 5-oxoprolinuria | 4 | Apr 21, 2025 |
| Glycine encephalopathy | 4 | Mar 18, 2025 |
| Glycine encephalopathy 1 | 10 | Apr 21, 2025 |
| Glycine encephalopathy 2 | 2 | Mar 18, 2025 |
| Glycogen storage disease IXb | 1 | Mar 18, 2025 |
| Glycogen storage disease IXd | 1 | Apr 21, 2025 |
| Glycogen storage disease XV | 1 | Mar 18, 2025 |
| Glycogen storage disease due to muscle beta-enolase deficiency | 2 | Apr 21, 2025 |
| Glycogen storage disease type 1 due to SLC37A4 mutation | 1 | Mar 18, 2025 |
| Glycogen storage disease type III | 10 | Mar 18, 2025 |
| Glycogen storage disease type X | 2 | Apr 21, 2025 |
| Glycogen storage disease, type I | 4 | Mar 18, 2025 |
| Glycogen storage disease, type II | 23 | Apr 21, 2025 |
| Glycogen storage disease, type IV | 5 | Apr 21, 2025 |
| Glycogen storage disease, type V | 15 | Apr 21, 2025 |
| Glycogen storage disease, type VI | 4 | Apr 21, 2025 |
| Glycogen storage disease, type VII | 2 | Apr 21, 2025 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 14 | Apr 21, 2025 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 1 | Apr 21, 2025 |
| Gnathodiaphyseal dysplasia | 2 | Mar 18, 2025 |
| Goldberg-Shprintzen syndrome | 1 | Mar 18, 2025 |
| Gonadotropin-independent familial sexual precocity | 1 | Apr 21, 2025 |
| Gordon syndrome | 15 | Apr 21, 2025 |
| Gorlin syndrome | 7 | Mar 18, 2025 |
| Granulocytopenia with immunoglobulin abnormality | 1 | Apr 21, 2025 |
| Granulomatous disease, chronic, X-linked | 1 | Mar 18, 2025 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2 | Apr 21, 2025 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 1 | Mar 18, 2025 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 1 | Apr 21, 2025 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 2 | Mar 18, 2025 |
| Gray platelet syndrome | 2 | Mar 18, 2025 |
| Grebe syndrome | 2 | Apr 21, 2025 |
| Greenberg dysplasia | 5 | Apr 21, 2025 |
| Greig cephalopolysyndactyly syndrome | 5 | Apr 21, 2025 |
| Griscelli syndrome type 1 | 4 | Apr 21, 2025 |
| Griscelli syndrome type 2 | 4 | Apr 21, 2025 |
| Griscelli syndrome type 3 | 1 | Apr 21, 2025 |
| Groenouw corneal dystrophy type I | 2 | Apr 21, 2025 |
| Growth delay due to insulin-like growth factor I resistance | 4 | Apr 21, 2025 |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 2 | Apr 21, 2025 |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 2 | Apr 21, 2025 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 1 | Mar 18, 2025 |
| Guillain-Barre syndrome, familial | 1 | Apr 21, 2025 |
| Guttmacher syndrome | 2 | Apr 21, 2025 |
| H syndrome | 1 | Mar 18, 2025 |
| HABP2-related disorder | 1 | Mar 18, 2025 |
| HEATR5B-related disorder | 1 | Apr 21, 2025 |
| HHATL-related disorder | 1 | Apr 21, 2025 |
| HLA-A-related condition | 1 | Mar 18, 2025 |
| HSD10 mitochondrial disease | 1 | Mar 18, 2025 |
| HYPERTENSION, DIASTOLIC, RESISTANCE TO | 1 | Apr 21, 2025 |
| Haddad syndrome | 1 | Mar 18, 2025 |
| Hajdu-Cheney syndrome | 5 | Apr 21, 2025 |
| Hand-foot-genital syndrome | 2 | Apr 21, 2025 |
| Harel-Yoon syndrome | 4 | Mar 18, 2025 |
| Hartsfield-Bixler-Demyer syndrome | 5 | Apr 21, 2025 |
| Hawkinsinuria | 2 | Apr 21, 2025 |
| Hb SS disease | 6 | Apr 21, 2025 |
| Hearing loss, autosomal dominant 37 | 1 | Mar 18, 2025 |
| Hearing loss, autosomal dominant 72 | 2 | Apr 21, 2025 |
| Hearing loss, autosomal dominant 75 | 4 | Apr 21, 2025 |
| Hearing loss, autosomal dominant 76 | 1 | Apr 21, 2025 |
| Hearing loss, autosomal dominant 78 | 4 | Apr 21, 2025 |
| Hearing loss, autosomal dominant 79 | 2 | Apr 21, 2025 |
| Hearing loss, autosomal dominant 80 | 1 | Apr 21, 2025 |
| Hearing loss, autosomal dominant 81 | 1 | Mar 18, 2025 |
| Hearing loss, autosomal dominant 83 | 6 | Apr 21, 2025 |
| Hearing loss, autosomal recessive | 6 | Mar 18, 2025 |
| Hearing loss, autosomal recessive 106 | 2 | Mar 18, 2025 |
| Hearing loss, autosomal recessive 110 | 1 | Mar 18, 2025 |
| Hearing loss, autosomal recessive 111 | 4 | Mar 18, 2025 |
| Hearing loss, autosomal recessive 113 | 1 | Mar 18, 2025 |
| Hearing loss, autosomal recessive 115 | 2 | Apr 21, 2025 |
| Hearing loss, autosomal recessive 119 | 3 | Mar 18, 2025 |
| Hearing loss, autosomal recessive 57 | 1 | Mar 18, 2025 |
| Hearing loss, autosomal recessive 94 | 1 | Apr 21, 2025 |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 3 | Apr 21, 2025 |
| Heart-hand syndrome, Slovenian type | 3 | Apr 21, 2025 |
| Hecht syndrome | 7 | Apr 21, 2025 |
| Heimler syndrome 1 | 8 | Apr 21, 2025 |
| Heimler syndrome 2 | 5 | Apr 21, 2025 |
| Heinz body anemia | 6 | Apr 21, 2025 |
| Helicobacter pylori infection, susceptibility to | 2 | Apr 21, 2025 |
| Hematuria, benign familial, 2 | 3 | Mar 18, 2025 |
| Hemochromatosis type 1 | 3 | Apr 21, 2025 |
| Hemochromatosis type 2A | 3 | Apr 21, 2025 |
| Hemochromatosis type 2B | 2 | Apr 21, 2025 |
| Hemochromatosis type 3 | 7 | Apr 21, 2025 |
| Hemochromatosis type 4 | 3 | Apr 21, 2025 |
| Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | 1 | Apr 21, 2025 |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 2 | Mar 18, 2025 |
| Hemolytic anemia due to glutathione reductase deficiency | 1 | Apr 21, 2025 |
| Hemolytic anemia due to hexokinase deficiency | 1 | Apr 21, 2025 |
| Hemolytic disease of fetus and newborn, RH-induced | 1 | Apr 21, 2025 |
| Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature | 1 | Mar 18, 2025 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 2 | Mar 18, 2025 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 3 | Apr 21, 2025 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 7 | Apr 21, 2025 |
| Heparin cofactor II deficiency | 5 | Apr 21, 2025 |
| Hepatic methionine adenosyltransferase deficiency | 1 | Apr 21, 2025 |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | 3 | Apr 21, 2025 |
| Hepatocellular carcinoma | 39 | Apr 21, 2025 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 4 | Apr 21, 2025 |
| Hereditary angioedema type 1 | 1 | Mar 18, 2025 |
| Hereditary angioedema type 3 | 1 | Mar 18, 2025 |
| Hereditary antithrombin deficiency | 5 | Apr 21, 2025 |
| Hereditary breast ovarian cancer syndrome | 196 | Mar 18, 2025 |
| Hereditary cancer-predisposing syndrome | 38 | Apr 22, 2025 |
| Hereditary cerebral amyloid angiopathy, Icelandic type | 1 | Mar 18, 2025 |
| Hereditary cryohydrocytosis with reduced stomatin | 1 | Apr 21, 2025 |
| Hereditary diffuse gastric adenocarcinoma | 37 | Apr 21, 2025 |
| Hereditary diffuse leukoencephalopathy with spheroids | 3 | Mar 18, 2025 |
| Hereditary factor I deficiency disease | 1 | Mar 18, 2025 |
| Hereditary factor XI deficiency disease | 7 | Apr 21, 2025 |
| Hereditary fructosuria | 7 | Mar 18, 2025 |
| Hereditary glaucoma, primary closed-angle | 5 | Apr 21, 2025 |
| Hereditary hypercarotenemia and vitamin A deficiency | 3 | Mar 18, 2025 |
| Hereditary hyperferritinemia with congenital cataracts | 2 | Apr 21, 2025 |
| Hereditary hypotrichosis with recurrent skin vesicles | 1 | Mar 18, 2025 |
| Hereditary insensitivity to pain with anhidrosis | 11 | Apr 21, 2025 |
| Hereditary leiomyomatosis and renal cell cancer | 37 | Apr 21, 2025 |
| Hereditary liability to pressure palsies | 1 | Apr 21, 2025 |
| Hereditary lymphedema type I | 2 | Apr 21, 2025 |
| Hereditary macular dystrophy | 10 | Mar 18, 2025 |
| Hereditary mucoepithelial dysplasia | 8 | Apr 21, 2025 |
| Hereditary neutrophilia | 2 | Mar 18, 2025 |
| Hereditary nonpolyposis colon cancer | 103 | Mar 18, 2025 |
| Hereditary nonpolyposis colorectal neoplasms | 1 | May 30, 2024 |
| Hereditary pancreatitis | 19 | Apr 21, 2025 |
| Hereditary persistence of fetal hemoglobin | 2 | Apr 21, 2025 |
| Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | 1 | Mar 18, 2025 |
| Hereditary pheochromocytoma and paraganglioma | 18 | Mar 18, 2025 |
| Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | 4 | Apr 21, 2025 |
| Hereditary sensory and autonomic neuropathy | 1 | Mar 18, 2025 |
| Hereditary sensory and autonomic neuropathy type 6 | 9 | Mar 18, 2025 |
| Hereditary sensory and autonomic neuropathy type 7 | 9 | Apr 21, 2025 |
| Hereditary spastic paraplegia | 3 | Mar 18, 2025 |
| Hereditary spastic paraplegia 10 | 1 | Apr 21, 2025 |
| Hereditary spastic paraplegia 11 | 2 | Apr 21, 2025 |
| Hereditary spastic paraplegia 12 | 1 | Apr 21, 2025 |
| Hereditary spastic paraplegia 13 | 1 | Apr 21, 2025 |
| Hereditary spastic paraplegia 15 | 3 | Apr 21, 2025 |
| Hereditary spastic paraplegia 17 | 2 | Mar 18, 2025 |
| Hereditary spastic paraplegia 18 | 1 | Mar 18, 2025 |
| Hereditary spastic paraplegia 28 | 1 | Mar 18, 2025 |
| Hereditary spastic paraplegia 30 | 6 | Apr 21, 2025 |
| Hereditary spastic paraplegia 31 | 4 | Apr 21, 2025 |
| Hereditary spastic paraplegia 39 | 3 | Apr 21, 2025 |
| Hereditary spastic paraplegia 4 | 2 | Apr 21, 2025 |
| Hereditary spastic paraplegia 42 | 1 | Apr 21, 2025 |
| Hereditary spastic paraplegia 44 | 2 | Apr 21, 2025 |
| Hereditary spastic paraplegia 45 | 1 | Mar 18, 2025 |
| Hereditary spastic paraplegia 47 | 1 | Mar 18, 2025 |
| Hereditary spastic paraplegia 48 | 2 | Mar 18, 2025 |
| Hereditary spastic paraplegia 52 | 1 | Mar 18, 2025 |
| Hereditary spastic paraplegia 53 | 1 | Apr 21, 2025 |
| Hereditary spastic paraplegia 54 | 1 | Mar 18, 2025 |
| Hereditary spastic paraplegia 5A | 1 | Mar 18, 2025 |
| Hereditary spastic paraplegia 6 | 1 | Apr 21, 2025 |
| Hereditary spastic paraplegia 64 | 1 | Mar 18, 2025 |
| Hereditary spastic paraplegia 7 | 12 | Apr 21, 2025 |
| Hereditary spastic paraplegia 72 | 1 | Apr 21, 2025 |
| Hereditary spastic paraplegia 73 | 1 | Apr 21, 2025 |
| Hereditary spastic paraplegia 75 | 1 | Mar 18, 2025 |
| Hereditary spastic paraplegia 77 | 3 | Apr 21, 2025 |
| Hereditary spastic paraplegia 8 | 3 | Apr 21, 2025 |
| Hereditary spastic paraplegia 9A | 1 | Mar 18, 2025 |
| Hereditary spherocytosis | 7 | Mar 18, 2025 |
| Hereditary spherocytosis type 1 | 1 | Apr 21, 2025 |
| Hereditary spherocytosis type 2 | 8 | Apr 21, 2025 |
| Hereditary spherocytosis type 3 | 13 | Apr 21, 2025 |
| Hereditary spherocytosis type 4 | 3 | Apr 21, 2025 |
| Hereditary spherocytosis type 5 | 1 | Mar 18, 2025 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 3 | Apr 21, 2025 |
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | 3 | Apr 21, 2025 |
| Hereditary xanthinuria type 1 | 4 | Apr 21, 2025 |
| Hermansky-Pudlak syndrome 1 | 8 | Apr 21, 2025 |
| Hermansky-Pudlak syndrome 2 | 4 | Mar 18, 2025 |
| Hermansky-Pudlak syndrome 3 | 3 | Apr 21, 2025 |
| Hermansky-Pudlak syndrome 4 | 4 | Apr 21, 2025 |
| Hermansky-Pudlak syndrome 5 | 6 | Apr 21, 2025 |
| Hermansky-Pudlak syndrome 6 | 9 | Apr 21, 2025 |
| Hermansky-Pudlak syndrome 7 | 2 | Mar 18, 2025 |
| Hermansky-Pudlak syndrome 8 | 1 | Apr 21, 2025 |
| Hermansky-Pudlak syndrome 9 | 1 | Mar 18, 2025 |
| Herpes simplex encephalitis, susceptibility to, 1 | 1 | Apr 21, 2025 |
| Herpes simplex encephalitis, susceptibility to, 3 | 1 | Apr 21, 2025 |
| Herpes simplex encephalitis, susceptibility to, 4 | 1 | Apr 21, 2025 |
| Heterotaxy, visceral, 2, autosomal | 1 | Mar 18, 2025 |
| Heterotaxy, visceral, 4, autosomal | 2 | Apr 21, 2025 |
| Heterotaxy, visceral, 6, autosomal | 1 | Mar 18, 2025 |
| Heterotaxy, visceral, 7, autosomal | 1 | Mar 18, 2025 |
| Heterotaxy, visceral, 8, autosomal | 7 | Apr 21, 2025 |
| Heterotaxy, visceral, 9, autosomal, with male infertility | 1 | Mar 18, 2025 |
| Heterotopia, periventricular, X-linked dominant | 4 | Apr 21, 2025 |
| High molecular weight kininogen deficiency | 1 | Apr 21, 2025 |
| Hip dysplasia, Beukes type | 1 | Apr 21, 2025 |
| Hirschsprung disease, susceptibility to, 1 | 24 | Apr 21, 2025 |
| Hirschsprung disease, susceptibility to, 2 | 3 | Apr 21, 2025 |
| Hirschsprung disease, susceptibility to, 3 | 1 | Apr 21, 2025 |
| Hirschsprung disease, susceptibility to, 4 | 2 | Apr 21, 2025 |
| Histidinemia | 2 | Apr 21, 2025 |
| Histiocytic medullary reticulosis | 12 | Apr 21, 2025 |
| Holocarboxylase synthetase deficiency | 7 | Apr 21, 2025 |
| Holoprosencephaly 11 | 4 | Mar 18, 2025 |
| Holoprosencephaly 12 with or without pancreatic agenesis | 4 | Mar 18, 2025 |
| Holoprosencephaly 13, X-linked | 2 | Apr 21, 2025 |
| Holoprosencephaly 2 | 3 | Apr 21, 2025 |
| Holoprosencephaly 3 | 1 | Apr 21, 2025 |
| Holoprosencephaly 4 | 6 | Apr 21, 2025 |
| Holoprosencephaly 5 | 1 | Apr 21, 2025 |
| Holoprosencephaly 7 | 44 | Apr 21, 2025 |
| Holoprosencephaly 9 | 8 | Apr 21, 2025 |
| Holt-Oram syndrome | 2 | Apr 21, 2025 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 12 | Apr 21, 2025 |
| Homozygous familial hypercholesterolemia | 3 | Mar 18, 2025 |
| Huntington disease | 4 | Mar 18, 2025 |
| Huppke-Brendel syndrome | 1 | Apr 21, 2025 |
| Hutchinson-Gilford syndrome | 1 | Apr 21, 2025 |
| Hyaline fibromatosis syndrome | 2 | Mar 18, 2025 |
| Hydatidiform mole, recurrent, 1 | 1 | Apr 21, 2025 |
| Hydatidiform mole, recurrent, 4 | 1 | Apr 21, 2025 |
| Hydrocephalus, congenital communicating, 1 | 5 | Apr 21, 2025 |
| Hydrocephalus, congenital, 3, with brain anomalies | 3 | Mar 18, 2025 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 9 | Mar 18, 2025 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 8 | Apr 21, 2025 |
| Hydrolethalus syndrome 1 | 3 | Apr 21, 2025 |
| Hydrolethalus syndrome 2 | 8 | Apr 21, 2025 |
| Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 1 | Apr 21, 2025 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | Apr 21, 2025 |
| Hyper-IgE recurrent infection syndrome 4, autosomal recessive | 2 | Apr 21, 2025 |
| Hyper-IgE recurrent infection syndrome 4A, autosomal dominant | 2 | Apr 21, 2025 |
| Hyperaldosteronism, familial, type IV | 24 | Apr 21, 2025 |
| Hyperammonemia, type III | 1 | Mar 18, 2025 |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 1 | Mar 18, 2025 |
| Hyperbiliverdinemia | 2 | Mar 18, 2025 |
| Hypercalcemia, infantile, 1 | 5 | Mar 18, 2025 |
| Hypercalcemia, infantile, 2 | 7 | Apr 21, 2025 |
| Hypercholanemia, familial, 2 | 3 | Apr 21, 2025 |
| Hypercholesterolemia, autosomal dominant, 3 | 5 | Apr 21, 2025 |
| Hypercholesterolemia, autosomal dominant, type B | 20 | Mar 18, 2025 |
| Hypercholesterolemia, familial, 1 | 13 | Apr 21, 2025 |
| Hypercholesterolemia, familial, 4 | 3 | Apr 21, 2025 |
| Hyperekplexia 1 | 1 | Apr 21, 2025 |
| Hyperekplexia 3 | 3 | Apr 21, 2025 |
| Hyperglycinuria | 8 | Apr 21, 2025 |
| Hyperimmunoglobulin D with periodic fever | 1 | Apr 21, 2025 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 2 | Mar 18, 2025 |
| Hyperinsulinemic hypoglycemia, familial, 2 | 3 | Mar 18, 2025 |
| Hyperinsulinemic hypoglycemia, familial, 4 | 2 | Apr 21, 2025 |
| Hyperinsulinism due to INSR deficiency | 4 | Apr 21, 2025 |
| Hyperlipidemia due to hepatic triglyceride lipase deficiency | 4 | Apr 21, 2025 |
| Hyperlipidemia, familial combined, LPL related | 3 | Apr 21, 2025 |
| Hyperlipoproteinemia, type 1D | 1 | Mar 18, 2025 |
| Hyperlipoproteinemia, type I | 3 | Apr 21, 2025 |
| Hyperlysinemia | 1 | Mar 18, 2025 |
| Hypermanganesemia with dystonia 2 | 1 | Mar 18, 2025 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 7 | Apr 21, 2025 |
| Hyperparathyroidism 2 with jaw tumors | 3 | Mar 18, 2025 |
| Hyperparathyroidism 4 | 6 | Apr 21, 2025 |
| Hyperphosphatasemia with bone disease | 2 | Apr 21, 2025 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 1 | Mar 18, 2025 |
| Hyperplastic polyposis syndrome | 33 | Mar 18, 2025 |
| Hyperprolinemia type 2 | 1 | Mar 18, 2025 |
| Hypersulfaturia | 4 | Apr 21, 2025 |
| Hypertriglyceridemia 1 | 1 | Mar 18, 2025 |
| Hypertriglyceridemia 2 | 2 | Mar 18, 2025 |
| Hypertrophic cardiomyopathy | 12 | Mar 18, 2025 |
| Hypertrophic cardiomyopathy 1 | 13 | Apr 21, 2025 |
| Hypertrophic cardiomyopathy 10 | 1 | Apr 21, 2025 |
| Hypertrophic cardiomyopathy 12 | 1 | Mar 18, 2025 |
| Hypertrophic cardiomyopathy 14 | 7 | Apr 21, 2025 |
| Hypertrophic cardiomyopathy 15 | 2 | Apr 21, 2025 |
| Hypertrophic cardiomyopathy 17 | 3 | Apr 21, 2025 |
| Hypertrophic cardiomyopathy 2 | 2 | Apr 21, 2025 |
| Hypertrophic cardiomyopathy 20 | 2 | Apr 21, 2025 |
| Hypertrophic cardiomyopathy 26 | 12 | Apr 21, 2025 |
| Hypertrophic cardiomyopathy 4 | 13 | Apr 21, 2025 |
| Hypertrophic cardiomyopathy 8 | 1 | Apr 21, 2025 |
| Hypertrophic cardiomyopathy 9 | 134 | Apr 21, 2025 |
| Hypertrophic osteoarthropathy, primary, autosomal dominant | 2 | Apr 21, 2025 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 3 | Apr 21, 2025 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 2 | Apr 21, 2025 |
| Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 2 | Apr 21, 2025 |
| Hyperuricemic nephropathy, familial juvenile type 4 | 1 | Apr 21, 2025 |
| Hypervalinemia and hyperleucine-isoleucinemia | 1 | Apr 21, 2025 |
| Hyperzincemia and hypercalprotectinemia | 2 | Apr 21, 2025 |
| Hypoalphalipoproteinemia, primary, 1 | 3 | Apr 21, 2025 |
| Hypochondroplasia | 2 | Apr 21, 2025 |
| Hypogonadism with anosmia | 1 | Mar 18, 2025 |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 1 | Apr 21, 2025 |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 4 | Apr 21, 2025 |
| Hypogonadotropic hypogonadism 15 with or without anosmia | 2 | Apr 21, 2025 |
| Hypogonadotropic hypogonadism 16 with or without anosmia | 1 | Apr 21, 2025 |
| Hypogonadotropic hypogonadism 17 with or without anosmia | 2 | Apr 21, 2025 |
| Hypogonadotropic hypogonadism 18 with or without anosmia | 6 | Apr 21, 2025 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 6 | Apr 21, 2025 |
| Hypogonadotropic hypogonadism 21 with or without anosmia | 1 | Apr 21, 2025 |
| Hypogonadotropic hypogonadism 26 with or without anosmia | 1 | Apr 21, 2025 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 4 | Apr 21, 2025 |
| Hypogonadotropic hypogonadism 4 with or without anosmia | 1 | Apr 21, 2025 |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 1 | Mar 18, 2025 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 12 | Apr 21, 2025 |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 1 | Mar 18, 2025 |
| Hypogonadotropic hypogonadism 9 with or without anosmia | 3 | Apr 21, 2025 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Mar 18, 2025 |
| Hypokalemic periodic paralysis, type 1 | 3 | Mar 18, 2025 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 1 | Mar 18, 2025 |
| Hypomyelinating leukodystrophy 11 | 3 | Mar 18, 2025 |
| Hypomyelinating leukodystrophy 2 | 3 | Apr 21, 2025 |
| Hypomyelinating leukodystrophy 4 | 1 | Apr 21, 2025 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 1 | Mar 18, 2025 |
| Hypomyelinating leukodystrophy 9 | 1 | Mar 18, 2025 |
| Hypomyelination and Congenital Cataract | 4 | Mar 18, 2025 |
| Hypoparathyroidism, deafness, renal disease syndrome | 2 | Apr 21, 2025 |
| Hypoparathyroidism, familial isolated 1 | 1 | Apr 21, 2025 |
| Hypoparathyroidism, familial isolated, 2 | 5 | Apr 21, 2025 |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 8 | Apr 21, 2025 |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 3 | Apr 21, 2025 |
| Hypophosphatemic rickets, X-linked recessive | 1 | Mar 31, 2021 |
| Hypophosphatemic rickets, autosomal recessive, 1 | 4 | Mar 18, 2025 |
| Hypophosphatemic rickets, autosomal recessive, 2 | 7 | Apr 21, 2025 |
| Hypopigmentation-punctate palmoplantar keratoderma syndrome | 7 | Apr 21, 2025 |
| Hypoplastic left heart syndrome 2 | 1 | Apr 21, 2025 |
| Hypospadias 2, X-linked | 1 | Mar 18, 2025 |
| Hypothyroidism due to TSH receptor mutations | 5 | Apr 21, 2025 |
| Hypothyroidism, congenital, nongoitrous, 2 | 3 | Apr 21, 2025 |
| Hypothyroidism, congenital, nongoitrous, 5 | 1 | Apr 21, 2025 |
| Hypothyroidism, congenital, nongoitrous, 9 | 1 | Apr 21, 2025 |
| Hypotonia with lactic acidemia and hyperammonemia | 2 | Apr 21, 2025 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 5 | Apr 21, 2025 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2 | Apr 21, 2025 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Mar 18, 2025 |
| Hypotrichosis 1 | 4 | Mar 18, 2025 |
| Hypotrichosis 11 | 1 | Apr 21, 2025 |
| Hypotrichosis 13 | 3 | Apr 21, 2025 |
| Hypotrichosis 14 | 1 | Apr 21, 2025 |
| Hypotrichosis 2 | 1 | Mar 18, 2025 |
| Hypotrichosis 3 | 2 | Apr 21, 2025 |
| Hypotrichosis 5 | 1 | Apr 21, 2025 |
| Hypotrichosis 6 | 1 | Mar 18, 2025 |
| Hypotrichosis 7 | 1 | Apr 21, 2025 |
| Hypotrichosis 8 | 1 | Apr 21, 2025 |
| Hypotrichosis-lymphedema-telangiectasia syndrome | 1 | Apr 21, 2025 |
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 1 | Apr 21, 2025 |
| Hypouricemia, renal, 2 | 3 | Apr 21, 2025 |
| IFAP syndrome 2 | 8 | Apr 21, 2025 |
| IFIH1-related type 1 interferonopathy | 4 | Mar 18, 2025 |
| IL4R-related disorder | 1 | Apr 21, 2025 |
| IMPG2-related recessive retinopathy | 1 | Mar 18, 2025 |
| IRAK3-related disorder | 1 | Apr 21, 2025 |
| ITPKB-related disorder | 2 | Apr 21, 2025 |
| Ichthyosis bullosa of Siemens | 2 | Apr 21, 2025 |
| Ichthyosis hystrix gravior | 4 | Apr 21, 2025 |
| Ichthyosis prematurity syndrome | 3 | Mar 18, 2025 |
| Ichthyosis vulgaris | 47 | Apr 21, 2025 |
| Ichthyosis, annular epidermolytic 1 | 4 | Apr 21, 2025 |
| Ichthyosis, congenital, autosomal recessive 13 | 3 | Apr 21, 2025 |
| Ichthyosis, hystrix-like, with hearing loss | 3 | Apr 21, 2025 |
| Idiopathic basal ganglia calcification 1 | 8 | Apr 21, 2025 |
| Idiopathic multidrug-resistant nephrotic syndrome | 1 | Mar 18, 2025 |
| Imerslund-Grasbeck syndrome type 1 | 6 | Apr 21, 2025 |
| Iminoglycinuria | 4 | Apr 21, 2025 |
| Immunodeficiency 106, susceptibility to viral infections | 2 | Apr 21, 2025 |
| Immunodeficiency 11b with atopic dermatitis | 4 | Mar 18, 2025 |
| Immunodeficiency 120 | 41 | Apr 21, 2025 |
| Immunodeficiency 14 | 4 | Apr 21, 2025 |
| Immunodeficiency 14b, autosomal recessive | 4 | Apr 21, 2025 |
| Immunodeficiency 15a | 3 | Apr 21, 2025 |
| Immunodeficiency 18 | 2 | Mar 18, 2025 |
| Immunodeficiency 25 | 1 | Mar 18, 2025 |
| Immunodeficiency 27A | 2 | Apr 21, 2025 |
| Immunodeficiency 32B | 5 | Apr 21, 2025 |
| Immunodeficiency 33 | 2 | Apr 21, 2025 |
| Immunodeficiency 35 | 1 | Mar 18, 2025 |
| Immunodeficiency 36 with lymphoproliferation | 1 | Apr 21, 2025 |
| Immunodeficiency 39 | 1 | Apr 21, 2025 |
| Immunodeficiency 45 | 1 | Mar 18, 2025 |
| Immunodeficiency 51 | 1 | Apr 21, 2025 |
| Immunodeficiency 57 | 2 | Apr 21, 2025 |
| Immunodeficiency 60 | 1 | Mar 18, 2025 |
| Immunodeficiency 62 | 1 | Mar 18, 2025 |
| Immunodeficiency 65, susceptibility to viral infections | 1 | Apr 21, 2025 |
| Immunodeficiency 66 | 1 | Apr 21, 2025 |
| Immunodeficiency 67 | 2 | Mar 18, 2025 |
| Immunodeficiency 69 | 1 | Apr 21, 2025 |
| Immunodeficiency 70 | 2 | Apr 21, 2025 |
| Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | 1 | Apr 21, 2025 |
| Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | 1 | Apr 21, 2025 |
| Immunodeficiency 74, COVID-19-related, X-linked | 1 | Apr 21, 2025 |
| Immunodeficiency 75 | 2 | Apr 21, 2025 |
| Immunodeficiency 77 | 2 | Apr 21, 2025 |
| Immunodeficiency 80 with or without congenital cardiomyopathy | 1 | Apr 21, 2025 |
| Immunodeficiency 82 with systemic inflammation | 1 | Apr 21, 2025 |
| Immunodeficiency 83, susceptibility to viral infections | 2 | Apr 21, 2025 |
| Immunodeficiency 88 | 1 | Mar 18, 2025 |
| Immunodeficiency 92 | 3 | Apr 21, 2025 |
| Immunodeficiency 94 with autoinflammation and dysmorphic facies | 2 | Apr 21, 2025 |
| Immunodeficiency 95 | 5 | Apr 21, 2025 |
| Immunodeficiency 97 with autoinflammation | 1 | Apr 21, 2025 |
| Immunodeficiency due to MASP-2 deficiency | 2 | Apr 21, 2025 |
| Immunodeficiency due to ficolin3 deficiency | 1 | Mar 18, 2025 |
| Immunodeficiency, common variable, 12 | 3 | Apr 21, 2025 |
| Immunodeficiency, common variable, 14 | 5 | Apr 21, 2025 |
| Immunodeficiency, common variable, 15 | 1 | Apr 21, 2025 |
| Immunodeficiency, common variable, 2 | 11 | Mar 18, 2025 |
| Immunodeficiency, common variable, 7 | 3 | Mar 18, 2025 |
| Immunodeficiency, developmental delay, and hypohomocysteinemia | 2 | Apr 21, 2025 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 3 | Mar 18, 2025 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 1 | Apr 21, 2025 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | 1 | Mar 18, 2025 |
| Inclusion body myopathy and brain white matter abnormalities | 1 | Mar 18, 2025 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 1 | Mar 18, 2025 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | 1 | Apr 21, 2025 |
| Incontinentia pigmenti syndrome | 2 | Apr 21, 2025 |
| Indifference to pain, congenital, autosomal dominant | 7 | Apr 21, 2025 |
| Infantile GM1 gangliosidosis | 3 | Apr 21, 2025 |
| Infantile hypophosphatasia | 10 | Mar 18, 2025 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 1 | Apr 21, 2025 |
| Infantile liver failure syndrome 1 | 1 | Mar 18, 2025 |
| Infantile liver failure syndrome 2 | 1 | Mar 18, 2025 |
| Infantile liver failure syndrome 3 | 3 | Apr 21, 2025 |
| Infantile nephronophthisis | 10 | Apr 21, 2025 |
| Infantile neuroaxonal dystrophy | 8 | Apr 21, 2025 |
| Infantile onset spinocerebellar ataxia | 1 | Apr 21, 2025 |
| Infantile-onset X-linked spinal muscular atrophy | 2 | Apr 21, 2025 |
| Infantile-onset generalized dyskinesia with orofacial involvement | 1 | Mar 18, 2025 |
| Infertility associated with multi-tailed spermatozoa and excessive DNA | 2 | Apr 21, 2025 |
| Inflammatory bowel disease 1 | 11 | Apr 21, 2025 |
| Inflammatory bowel disease 28 | 1 | Apr 21, 2025 |
| Inflammatory bowel disease 29 | 1 | Apr 21, 2025 |
| Inflammatory bowel disease 30 | 2 | Mar 18, 2025 |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 1 | Mar 18, 2025 |
| Inherited focal segmental glomerulosclerosis | 4 | Mar 18, 2025 |
| Inherited obesity | 12 | Apr 21, 2025 |
| Inherited prekallikrein deficiency | 4 | Apr 21, 2025 |
| Inherited susceptibility to asthma | 1 | Apr 21, 2025 |
| Inosine triphosphatase deficiency | 1 | Apr 21, 2025 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 3 | Apr 21, 2025 |
| Intellectual developmental disorder 59 | 1 | Mar 18, 2025 |
| Intellectual developmental disorder 61 | 4 | Apr 21, 2025 |
| Intellectual developmental disorder with autism and macrocephaly | 2 | Apr 21, 2025 |
| Intellectual developmental disorder with autism and speech delay | 1 | Apr 21, 2025 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 3 | Apr 21, 2025 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 1 | Apr 21, 2025 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 1 | Mar 18, 2025 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 3 | Apr 21, 2025 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 3 | Mar 18, 2025 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Apr 21, 2025 |
| Intellectual developmental disorder with hypertelorism and distinctive facies | 1 | Mar 18, 2025 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Apr 21, 2025 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 1 | Mar 18, 2025 |
| Intellectual developmental disorder with seizures and language delay | 6 | Apr 21, 2025 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 2 | Mar 18, 2025 |
| Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 1 | Apr 21, 2025 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 12 | Apr 21, 2025 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 | Mar 18, 2025 |
| Intellectual developmental disorder, autosomal dominant 68 | 6 | Apr 21, 2025 |
| Intellectual developmental disorder, autosomal dominant 70 | 5 | Apr 21, 2025 |
| Intellectual developmental disorder, autosomal recessive 67 | 2 | Apr 21, 2025 |
| Intellectual developmental disorder, autosomal recessive 71 | 1 | Mar 18, 2025 |
| Intellectual developmental disorder, autosomal recessive 72 | 1 | Mar 18, 2025 |
| Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 1 | Mar 18, 2025 |
| Intellectual developmental disorder, autosomal recessive 77 | 2 | Apr 21, 2025 |
| Intellectual developmental disorder, autosomal recessive 78 | 4 | Apr 21, 2025 |
| Intellectual disability | 6 | Mar 18, 2025 |
| Intellectual disability, X-linked 1 | 3 | Apr 21, 2025 |
| Intellectual disability, X-linked 100 | 1 | Apr 21, 2025 |
| Intellectual disability, X-linked 104 | 2 | Apr 21, 2025 |
| Intellectual disability, X-linked 41 | 1 | Apr 21, 2025 |
| Intellectual disability, X-linked 61 | 1 | Apr 21, 2025 |
| Intellectual disability, X-linked 63 | 1 | Apr 21, 2025 |
| Intellectual disability, X-linked 97 | 1 | Apr 21, 2025 |
| Intellectual disability, X-linked 99 | 2 | Apr 21, 2025 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 2 | Apr 21, 2025 |
| Intellectual disability, X-linked syndromic, Turner type | 3 | Apr 21, 2025 |
| Intellectual disability, X-linked, with panhypopituitarism | 3 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 1 | 2 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 13 | 1 | Mar 18, 2025 |
| Intellectual disability, autosomal dominant 15 | 3 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 16 | 18 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 22 | 1 | Mar 18, 2025 |
| Intellectual disability, autosomal dominant 24 | 4 | Mar 18, 2025 |
| Intellectual disability, autosomal dominant 29 | 9 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 33 | 1 | Mar 18, 2025 |
| Intellectual disability, autosomal dominant 34 | 4 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 39 | 1 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 40 | 1 | Mar 18, 2025 |
| Intellectual disability, autosomal dominant 42 | 1 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 43 | 8 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 45 | 4 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 46 | 1 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 47 | 2 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 50 | 3 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 51 | 2 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 52 | 2 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 56 | 3 | Mar 18, 2025 |
| Intellectual disability, autosomal dominant 58 | 2 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 6 | 1 | Apr 21, 2025 |
| Intellectual disability, autosomal dominant 9 | 6 | Apr 21, 2025 |
| Intellectual disability, autosomal recessive 1 | 1 | Mar 18, 2025 |
| Intellectual disability, autosomal recessive 13 | 3 | Mar 18, 2025 |
| Intellectual disability, autosomal recessive 18 | 1 | Apr 21, 2025 |
| Intellectual disability, autosomal recessive 42 | 1 | Mar 18, 2025 |
| Intellectual disability, autosomal recessive 46 | 1 | Mar 18, 2025 |
| Intellectual disability, autosomal recessive 47 | 7 | Apr 21, 2025 |
| Intellectual disability, autosomal recessive 53 | 1 | Mar 18, 2025 |
| Intellectual disability, autosomal recessive 56 | 1 | Mar 18, 2025 |
| Intellectual disability, autosomal recessive 58 | 3 | Apr 21, 2025 |
| Intellectual disability, autosomal recessive 61 | 2 | Apr 21, 2025 |
| Intellectual disability, autosomal recessive 66 | 1 | Apr 21, 2025 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 2 | Mar 18, 2025 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 5 | Apr 21, 2025 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 1 | Mar 18, 2025 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Apr 21, 2025 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Apr 21, 2025 |
| Interstitial lung disease 1 | 5 | Apr 21, 2025 |
| Interstitial lung disease 2 | 5 | Apr 21, 2025 |
| Interstitial lung disease due to ABCA3 deficiency | 4 | Mar 18, 2025 |
| Intestinal hypomagnesemia 1 | 2 | Apr 21, 2025 |
| Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | 6 | Apr 21, 2025 |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 4 | Apr 21, 2025 |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 133 | Apr 21, 2025 |
| Intrinsic cardiomyopathy | 3 | Mar 18, 2025 |
| Iodotyrosyl coupling defect | 4 | Apr 21, 2025 |
| Iron-refractory iron deficiency anemia | 2 | Apr 21, 2025 |
| Ischemic stroke | 16 | Apr 21, 2025 |
| Islet cell adenomatosis | 1 | Apr 21, 2025 |
| Isolated anhidrosis with normal sweat glands | 2 | Apr 21, 2025 |
| Isolated congenital digital clubbing | 2 | Apr 21, 2025 |
| Isolated cryptophthalmia | 14 | Apr 21, 2025 |
| Isolated focal cortical dysplasia type II | 82 | Apr 21, 2025 |
| Isolated focal non-epidermolytic palmoplantar keratoderma | 3 | Apr 21, 2025 |
| Isolated growth hormone deficiency type IB | 1 | Apr 21, 2025 |
| Isolated growth hormone deficiency, type 5 | 3 | Apr 21, 2025 |
| Isolated hyperchlorhidrosis | 1 | Apr 21, 2025 |
| Isolated microphthalmia 2 | 1 | Mar 18, 2025 |
| Isolated microphthalmia 3 | 2 | Apr 21, 2025 |
| Isolated microphthalmia 4 | 7 | Apr 21, 2025 |
| Isolated microphthalmia 5 | 4 | Mar 18, 2025 |
| Isolated microphthalmia 7 | 3 | Apr 21, 2025 |
| Isolated neonatal sclerosing cholangitis | 1 | Mar 18, 2025 |
| Isolated thyroid-stimulating hormone deficiency | 2 | Apr 21, 2025 |
| Isovaleryl-CoA dehydrogenase deficiency | 7 | Apr 21, 2025 |
| Jackson-Weiss syndrome | 7 | Apr 21, 2025 |
| Jalili syndrome | 1 | Mar 18, 2025 |
| Jervell and Lange-Nielsen syndrome 1 | 3 | Apr 21, 2025 |
| Jervell and Lange-Nielsen syndrome 2 | 1 | Apr 21, 2025 |
| Johanson-Blizzard syndrome | 9 | Apr 21, 2025 |
| Joint laxity, short stature, and myopia | 1 | Apr 21, 2025 |
| Joubert syndrome | 2 | Mar 18, 2025 |
| Joubert syndrome 1 | 8 | Apr 21, 2025 |
| Joubert syndrome 10 | 1 | Apr 21, 2025 |
| Joubert syndrome 13 | 4 | Apr 21, 2025 |
| Joubert syndrome 14 | 4 | Apr 21, 2025 |
| Joubert syndrome 15 | 5 | Apr 21, 2025 |
| Joubert syndrome 17 | 11 | Apr 21, 2025 |
| Joubert syndrome 18 | 1 | Apr 21, 2025 |
| Joubert syndrome 2 | 4 | Apr 21, 2025 |
| Joubert syndrome 20 | 4 | Apr 21, 2025 |
| Joubert syndrome 21 | 1 | Mar 18, 2025 |
| Joubert syndrome 24 | 3 | Apr 21, 2025 |
| Joubert syndrome 25 | 2 | Apr 21, 2025 |
| Joubert syndrome 28 | 5 | Apr 21, 2025 |
| Joubert syndrome 3 | 3 | Mar 18, 2025 |
| Joubert syndrome 30 | 1 | Mar 18, 2025 |
| Joubert syndrome 32 | 11 | Apr 21, 2025 |
| Joubert syndrome 33 | 2 | Apr 21, 2025 |
| Joubert syndrome 36 | 2 | Apr 21, 2025 |
| Joubert syndrome 37 | 1 | Apr 21, 2025 |
| Joubert syndrome 5 | 7 | Apr 21, 2025 |
| Joubert syndrome 6 | 15 | Apr 21, 2025 |
| Joubert syndrome 7 | 4 | Apr 21, 2025 |
| Joubert syndrome 8 | 1 | Apr 21, 2025 |
| Joubert syndrome 9 | 2 | Apr 21, 2025 |
| Joubert syndrome with renal defect | 2 | Apr 21, 2025 |
| Juberg-Hayward syndrome | 1 | Apr 21, 2025 |
| Junctional epidermolysis bullosa | 6 | Mar 18, 2025 |
| Junctional epidermolysis bullosa gravis of Herlitz | 32 | Apr 21, 2025 |
| Junctional epidermolysis bullosa with pyloric atresia | 50 | Apr 21, 2025 |
| Junctional epidermolysis bullosa, non-Herlitz type | 20 | Apr 21, 2025 |
| Juvenile cataract-microcornea-renal glucosuria syndrome | 3 | Apr 21, 2025 |
| Juvenile myelomonocytic leukemia | 25 | Apr 21, 2025 |
| Juvenile onset Parkinson disease 19A | 1 | Mar 18, 2025 |
| Juvenile polyposis of infancy | 1 | Mar 18, 2025 |
| Juvenile polyposis syndrome | 35 | Apr 21, 2025 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 20 | Apr 21, 2025 |
| KBG syndrome | 11 | Mar 18, 2025 |
| KCNJ12-related disorder | 2 | Apr 21, 2025 |
| KCNJ8-related disorder | 1 | Apr 21, 2025 |
| KIZ-related retinopathy | 2 | Mar 18, 2025 |
| Kabuki syndrome 1 | 16 | Apr 21, 2025 |
| Kabuki syndrome 2 | 1 | Apr 21, 2025 |
| Kartagener syndrome | 5 | Mar 18, 2025 |
| Karyomegalic interstitial nephritis | 3 | Mar 18, 2025 |
| Kennedy disease | 3 | Mar 18, 2025 |
| Keppen-Lubinsky syndrome | 1 | Apr 21, 2025 |
| Keratoconus 1 | 3 | Apr 21, 2025 |
| Keratoconus 9 | 3 | Apr 21, 2025 |
| Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | 4 | Apr 21, 2025 |
| Keratolytic winter erythema | 1 | Mar 18, 2025 |
| Keratosis follicularis | 1 | Mar 18, 2025 |
| Keratosis palmoplantaris striata 2 | 2 | Mar 18, 2025 |
| Keratosis pilaris atrophicans | 3 | Apr 21, 2025 |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 1 | Apr 21, 2025 |
| Khan-Khan-Katsanis syndrome | 2 | Apr 21, 2025 |
| Kilquist syndrome | 4 | Apr 21, 2025 |
| Kindler syndrome | 1 | Apr 21, 2025 |
| King Denborough syndrome | 32 | Apr 21, 2025 |
| Kleefstra syndrome | 2 | Mar 18, 2025 |
| Kleefstra syndrome 1 | 6 | Apr 21, 2025 |
| Kleefstra syndrome 2 | 11 | Apr 21, 2025 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 4 | Apr 21, 2025 |
| Klippel-Feil syndrome 1, autosomal dominant | 7 | Apr 21, 2025 |
| Klippel-Feil syndrome 2, autosomal recessive | 1 | Mar 18, 2025 |
| Klippel-Feil syndrome 3, autosomal dominant | 3 | Apr 21, 2025 |
| Knobloch syndrome 1 | 17 | Apr 21, 2025 |
| Knuckle pads, deafness AND leukonychia syndrome | 16 | Apr 21, 2025 |
| Kufor-Rakeb syndrome | 14 | Mar 18, 2025 |
| Kugelberg-Welander disease | 1 | Apr 21, 2025 |
| Kury-Isidor syndrome | 12 | Apr 21, 2025 |
| L-2-hydroxyglutaric aciduria | 2 | Apr 21, 2025 |
| L-ferritin deficiency | 2 | Apr 21, 2025 |
| LADD syndrome 1 | 2 | Apr 21, 2025 |
| LAMB2-related infantile-onset nephrotic syndrome | 5 | Apr 21, 2025 |
| LCA5-related retinopathy | 1 | Mar 18, 2025 |
| LCAT deficiency | 1 | Mar 18, 2025 |
| LEOPARD syndrome 1 | 3 | Apr 21, 2025 |
| LEOPARD syndrome 2 | 3 | Apr 21, 2025 |
| LIPE-related familial partial lipodystrophy | 2 | Apr 21, 2025 |
| LMO1-related disorder | 1 | Apr 22, 2025 |
| LPA-related disorder | 1 | Mar 18, 2025 |
| LRP5-related exudative vitreoretinopathy | 1 | Mar 18, 2025 |
| LZTR1-related schwannomatosis | 23 | Apr 21, 2025 |
| Lacrimoauriculodentodigital syndrome 2 | 2 | Apr 21, 2025 |
| Lacrimoauriculodentodigital syndrome 3 | 1 | Apr 21, 2025 |
| Lactic aciduria due to D-lactic acid | 3 | Apr 21, 2025 |
| Lamb-Shaffer syndrome | 3 | Apr 21, 2025 |
| Lambdoidal craniosynostosis | 2 | Apr 21, 2025 |
| Landau-Kleffner syndrome | 5 | Apr 21, 2025 |
| Langer mesomelic dysplasia syndrome | 4 | Apr 21, 2025 |
| Laron-type isolated somatotropin defect | 5 | Apr 21, 2025 |
| Larsen syndrome | 13 | Apr 21, 2025 |
| Larsen-like syndrome, B3GAT3 type | 1 | Mar 18, 2025 |
| Laryngo-onycho-cutaneous syndrome | 15 | Apr 21, 2025 |
| Late-onset retinal degeneration | 1 | Mar 18, 2025 |
| Lateral meningocele syndrome | 11 | Apr 21, 2025 |
| Lathosterolosis | 2 | Apr 21, 2025 |
| Lattice corneal dystrophy Type I | 2 | Apr 21, 2025 |
| Laurence-Moon syndrome | 3 | Apr 21, 2025 |
| Laurin-Sandrow syndrome | 4 | Apr 21, 2025 |
| Leber congenital amaurosis | 3 | Mar 18, 2025 |
| Leber congenital amaurosis 1 | 8 | Apr 21, 2025 |
| Leber congenital amaurosis 10 | 4 | Apr 21, 2025 |
| Leber congenital amaurosis 11 | 3 | Apr 21, 2025 |
| Leber congenital amaurosis 13 | 4 | Apr 21, 2025 |
| Leber congenital amaurosis 14 | 3 | Apr 21, 2025 |
| Leber congenital amaurosis 16 | 2 | Apr 21, 2025 |
| Leber congenital amaurosis 17 | 7 | Apr 21, 2025 |
| Leber congenital amaurosis 19 | 2 | Apr 21, 2025 |
| Leber congenital amaurosis 2 | 5 | Apr 21, 2025 |
| Leber congenital amaurosis 3 | 3 | Apr 21, 2025 |
| Leber congenital amaurosis 4 | 1 | Apr 21, 2025 |
| Leber congenital amaurosis 5 | 5 | Apr 21, 2025 |
| Leber congenital amaurosis 6 | 16 | Apr 21, 2025 |
| Leber congenital amaurosis 9 | 4 | Apr 21, 2025 |
| Leber-like hereditary optic neuropathy, autosomal recessive 1 | 1 | Mar 18, 2025 |
| Leber-like hereditary optic neuropathy, autosomal recessive 2 | 1 | Apr 21, 2025 |
| Left ventricular noncompaction | 1 | Mar 18, 2025 |
| Left ventricular noncompaction 10 | 13 | Apr 21, 2025 |
| Left ventricular noncompaction 7 | 1 | Mar 18, 2025 |
| Left ventricular noncompaction 8 | 1 | Apr 21, 2025 |
| Leigh syndrome | 27 | Mar 18, 2025 |
| Leprechaunism syndrome | 4 | Apr 21, 2025 |
| Leprosy, susceptibility to, 3 | 2 | Apr 21, 2025 |
| Leri-Weill dyschondrosteosis | 5 | Apr 21, 2025 |
| Lessel-kubisch syndrome | 1 | Apr 21, 2025 |
| Lethal Kniest-like syndrome | 26 | Apr 21, 2025 |
| Lethal acantholytic epidermolysis bullosa | 2 | Mar 18, 2025 |
| Lethal arthrogryposis-anterior horn cell disease syndrome | 4 | Apr 21, 2025 |
| Lethal congenital contracture syndrome 1 | 4 | Apr 21, 2025 |
| Lethal congenital contracture syndrome 11 | 1 | Mar 18, 2025 |
| Lethal congenital contracture syndrome 2 | 2 | Apr 21, 2025 |
| Lethal congenital contracture syndrome 4 | 5 | Apr 21, 2025 |
| Lethal congenital contracture syndrome 7 | 1 | Mar 18, 2025 |
| Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | 2 | Mar 18, 2025 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 5 | Apr 21, 2025 |
| Lethal multiple pterygium syndrome | 4 | Mar 18, 2025 |
| Lethal occipital encephalocele-skeletal dysplasia syndrome | 1 | Mar 18, 2025 |
| Lethal osteosclerotic bone dysplasia | 4 | Apr 21, 2025 |
| Lethal polymalformative syndrome, Boissel type | 1 | Apr 21, 2025 |
| Leucine-induced hypoglycemia | 2 | Mar 18, 2025 |
| Leukodystrophy, hypomyelinating, 17 | 1 | Mar 18, 2025 |
| Leukodystrophy, hypomyelinating, 18 | 1 | Mar 18, 2025 |
| Leukodystrophy, hypomyelinating, 19, transient infantile | 1 | Apr 21, 2025 |
| Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy | 1 | Mar 18, 2025 |
| Leukodystrophy, hypomyelinating, 27 | 3 | Apr 21, 2025 |
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | 1 | Apr 21, 2025 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | Mar 18, 2025 |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 2 | Mar 18, 2025 |
| Leukoencephalopathy with vanishing white matter 1 | 1 | Mar 18, 2025 |
| Leukoencephalopathy with vanishing white matter 2 | 3 | Apr 21, 2025 |
| Leukoencephalopathy with vanishing white matter 5 | 1 | Mar 18, 2025 |
| Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | 2 | Apr 21, 2025 |
| Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 1 | Mar 18, 2025 |
| Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome | 1 | Apr 21, 2025 |
| Leukoencephalopathy, porphyria-related | 3 | Apr 21, 2025 |
| Leukoencephalopathy, progressive, with ovarian failure | 2 | Mar 18, 2025 |
| Lewy body dementia | 2 | Apr 21, 2025 |
| Leydig cell agenesis | 1 | Apr 21, 2025 |
| Li-Fraumeni syndrome | 35 | Mar 18, 2025 |
| Li-Fraumeni syndrome 1 | 73 | Apr 21, 2025 |
| Li-Ghorbani-Weisz-Hubshman syndrome | 2 | Apr 21, 2025 |
| Liang-Wang syndrome | 2 | Apr 21, 2025 |
| Liberfarb syndrome | 1 | Apr 21, 2025 |
| Liddle syndrome 1 | 3 | Apr 21, 2025 |
| Liddle syndrome 3 | 4 | Apr 21, 2025 |
| Limb-mammary syndrome | 3 | Apr 21, 2025 |
| Linear skin defects with multiple congenital anomalies 1 | 1 | Apr 21, 2025 |
| Lipase deficiency, combined | 2 | Apr 21, 2025 |
| Lipodystrophy | 4 | Mar 18, 2025 |
| Lipodystrophy, partial, acquired, susceptibility to | 1 | Apr 21, 2025 |
| Lipoic acid synthetase deficiency | 1 | Apr 21, 2025 |
| Lipoyl transferase 1 deficiency | 2 | Apr 21, 2025 |
| Lisch epithelial corneal dystrophy | 5 | Apr 21, 2025 |
| Lissencephaly | 2 | Mar 18, 2025 |
| Lissencephaly 10 | 3 | Apr 21, 2025 |
| Lissencephaly 8 | 1 | Mar 18, 2025 |
| Lissencephaly 9 with complex brainstem malformation | 13 | Apr 21, 2025 |
| Lissencephaly due to LIS1 mutation | 1 | Apr 21, 2025 |
| Loeys-Dietz syndrome 2 | 1 | Apr 21, 2025 |
| Loeys-Dietz syndrome 4 | 1 | Apr 21, 2025 |
| Long QT syndrome | 5 | Mar 18, 2025 |
| Long QT syndrome 1 | 3 | Apr 21, 2025 |
| Long QT syndrome 11 | 1 | Mar 31, 2021 |
| Long QT syndrome 13 | 1 | Apr 21, 2025 |
| Long QT syndrome 2 | 6 | Apr 21, 2025 |
| Long QT syndrome 3 | 6 | Apr 21, 2025 |
| Long QT syndrome 5 | 1 | Apr 21, 2025 |
| Long QT syndrome 6 | 1 | Mar 18, 2025 |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 6 | Apr 21, 2025 |
| Long chain acyl-CoA dehydrogenase deficiency | 2 | Mar 18, 2025 |
| Loricrin keratoderma | 1 | Mar 18, 2025 |
| Low phospholipid associated cholelithiasis | 3 | Mar 18, 2025 |
| Lowe syndrome | 1 | Apr 21, 2025 |
| Lower urinary tract obstruction, congenital | 2 | Mar 18, 2025 |
| Lucey-Driscoll syndrome | 9 | Apr 21, 2025 |
| Lung cancer | 19 | Apr 21, 2025 |
| Lung lymphangioleiomyomatosis | 7 | Mar 18, 2025 |
| Luscan-Lumish syndrome | 5 | Apr 21, 2025 |
| Lymphangiomyomatosis | 81 | Apr 21, 2025 |
| Lymphatic malformation 3 | 1 | Apr 21, 2025 |
| Lymphatic malformation 4 | 2 | Apr 21, 2025 |
| Lymphatic malformation 6 | 25 | Apr 21, 2025 |
| Lymphoma, non-Hodgkin, familial | 13 | Apr 21, 2025 |
| Lymphoproliferative syndrome 1 | 1 | Mar 18, 2025 |
| Lynch syndrome | 376 | Mar 18, 2025 |
| Lynch syndrome 1 | 148 | Apr 21, 2025 |
| Lynch syndrome 4 | 94 | Apr 21, 2025 |
| Lynch syndrome 5 | 178 | Apr 21, 2025 |
| Lynch syndrome 8 | 7 | Apr 21, 2025 |
| Lysinuric protein intolerance | 2 | Mar 18, 2025 |
| MAK-related retinopathy | 1 | Mar 18, 2025 |
| MAP2K3-related disorder | 2 | Apr 21, 2025 |
| MASA syndrome | 7 | Apr 21, 2025 |
| MASS syndrome | 15 | Apr 21, 2025 |
| MCM7-related disorder | 1 | Mar 18, 2025 |
| MEGF10-related myopathy | 1 | Apr 21, 2025 |
| MEGF8-related Carpenter syndrome | 1 | Apr 21, 2025 |
| MEND syndrome | 1 | Mar 18, 2025 |
| METHEMOGLOBINEMIA, BETA TYPE | 2 | Apr 21, 2025 |
| METTL13-related disorder | 1 | Mar 18, 2025 |
| MGAT2-congenital disorder of glycosylation | 1 | Apr 21, 2025 |
| MHC class II deficiency | 1 | Mar 18, 2025 |
| MHC class II deficiency 2 | 1 | Mar 18, 2025 |
| MIRAGE syndrome | 11 | Apr 21, 2025 |
| MMP1-related disorder | 1 | Mar 18, 2025 |
| MOGS-congenital disorder of glycosylation | 3 | Apr 21, 2025 |
| MORM syndrome | 8 | Apr 21, 2025 |
| MPG-related condition | 1 | Mar 18, 2025 |
| MPI-congenital disorder of glycosylation | 4 | Apr 21, 2025 |
| MR1-related disorder | 1 | Apr 21, 2025 |
| MUC4-related condition | 1 | Mar 18, 2025 |
| MUC4-related disorder | 3 | Apr 21, 2025 |
| MUC6-related disorder | 1 | Apr 21, 2025 |
| MYF6-related disorder | 1 | Apr 21, 2025 |
| MYH7-related skeletal myopathy | 8 | Apr 21, 2025 |
| MYH7B-related disorder | 1 | Apr 21, 2025 |
| MYPN-related myopathy | 5 | Apr 21, 2025 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Apr 21, 2025 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 2 | Apr 21, 2025 |
| Macrocephaly-autism syndrome | 20 | Apr 21, 2025 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Apr 21, 2025 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 6 | Apr 21, 2025 |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 2 | Mar 18, 2025 |
| Macular corneal dystrophy | 3 | Mar 18, 2025 |
| Macular degeneration, X-linked atrophic | 2 | Apr 21, 2025 |
| Macular degeneration, age-related, 3 | 4 | Apr 21, 2025 |
| Macular degeneration, early-onset | 8 | Apr 21, 2025 |
| Macular dystrophy with central cone involvement | 3 | Apr 21, 2025 |
| Malaria, susceptibility to | 1 | Apr 21, 2025 |
| Male infertility with azoospermia or oligozoospermia due to single gene mutation | 4 | Mar 18, 2025 |
| Malignant hyperthermia, susceptibility to, 1 | 28 | Apr 21, 2025 |
| Malignant hyperthermia, susceptibility to, 5 | 7 | Mar 18, 2025 |
| Malignant neoplasm of brain | 2 | Mar 31, 2021 |
| Malignant tumor of breast | 1780 | Nov 25, 2025 |
| Malignant tumor of esophagus | 2 | Apr 21, 2025 |
| Malignant tumor of thyroid gland | 2 | Mar 31, 2021 |
| Malignant tumor of urinary bladder | 5 | Apr 21, 2025 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 50 | Apr 21, 2025 |
| Mandibuloacral dysplasia with type A lipodystrophy | 2 | Apr 21, 2025 |
| Mandibuloacral dysplasia with type B lipodystrophy | 3 | Apr 21, 2025 |
| Mandibulofacial dysostosis with alopecia | 1 | Apr 21, 2025 |
| Mandibulofacial dysostosis-microcephaly syndrome | 2 | Apr 21, 2025 |
| Mannose-binding lectin deficiency | 5 | Apr 21, 2025 |
| Maple syrup urine disease type 1A | 1 | Mar 18, 2025 |
| Maple syrup urine disease type 1B | 5 | Mar 18, 2025 |
| Marden-Walker syndrome | 15 | Apr 21, 2025 |
| Marfan syndrome | 15 | Apr 21, 2025 |
| Marinesco-Sjögren syndrome | 3 | Apr 21, 2025 |
| Marshall syndrome | 1 | Mar 18, 2025 |
| Martsolf syndrome 1 | 4 | Apr 21, 2025 |
| Martsolf syndrome 2 | 4 | Apr 21, 2025 |
| Mast syndrome | 1 | Mar 18, 2025 |
| Maternal riboflavin deficiency | 2 | Mar 18, 2025 |
| Matthew-Wood syndrome | 5 | Apr 21, 2025 |
| Maturity-onset diabetes of the young | 1 | Mar 18, 2025 |
| Maturity-onset diabetes of the young type 1 | 1 | Apr 21, 2025 |
| Maturity-onset diabetes of the young type 10 | 1 | Mar 18, 2025 |
| Maturity-onset diabetes of the young type 11 | 2 | Apr 21, 2025 |
| Maturity-onset diabetes of the young type 13 | 5 | Mar 18, 2025 |
| Maturity-onset diabetes of the young type 4 | 1 | Apr 21, 2025 |
| Maturity-onset diabetes of the young type 6 | 1 | Apr 21, 2025 |
| Maturity-onset diabetes of the young type 7 | 2 | Apr 21, 2025 |
| Maturity-onset diabetes of the young type 8 | 10 | Apr 21, 2025 |
| Maturity-onset diabetes of the young type 9 | 2 | Apr 21, 2025 |
| McCune-Albright syndrome | 7 | Apr 21, 2025 |
| McKusick-Kaufman syndrome | 6 | Apr 21, 2025 |
| Meckel syndrome 13 | 5 | Mar 18, 2025 |
| Meckel syndrome, type 1 | 5 | Apr 21, 2025 |
| Meckel syndrome, type 11 | 4 | Apr 21, 2025 |
| Meckel syndrome, type 2 | 4 | Apr 21, 2025 |
| Meckel syndrome, type 3 | 11 | Apr 21, 2025 |
| Meckel syndrome, type 4 | 4 | Apr 21, 2025 |
| Meckel syndrome, type 5 | 3 | Apr 21, 2025 |
| Meckel syndrome, type 6 | 2 | Apr 21, 2025 |
| Meckel syndrome, type 8 | 3 | Apr 21, 2025 |
| Meckel-Gruber syndrome | 3 | Mar 18, 2025 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 7 | Mar 18, 2025 |
| Medulloblastoma | 52 | Apr 21, 2025 |
| Megabladder, congenital | 3 | Apr 21, 2025 |
| Megaconial type congenital muscular dystrophy | 3 | Apr 21, 2025 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 4 | Apr 21, 2025 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 4 | Apr 21, 2025 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 3 | Apr 21, 2025 |
| Megalencephaly-polydactyly syndrome | 4 | Apr 21, 2025 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 | Apr 21, 2025 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 1 | Mar 18, 2025 |
| Meier-Gorlin syndrome 1 | 3 | Apr 21, 2025 |
| Meier-Gorlin syndrome 3 | 2 | Apr 21, 2025 |
| Meier-Gorlin syndrome 6 | 2 | Apr 21, 2025 |
| Melanoma and neural system tumor syndrome | 6 | Apr 21, 2025 |
| Melanoma, cutaneous malignant, susceptibility to, 1 | 34 | Apr 21, 2025 |
| Melanoma, cutaneous malignant, susceptibility to, 2 | 6 | Apr 21, 2025 |
| Melanoma, cutaneous malignant, susceptibility to, 3 | 3 | Apr 21, 2025 |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 3 | Apr 21, 2025 |
| Melanoma, uveal, susceptibility to, 2 | 12 | Apr 21, 2025 |
| Melanoma-pancreatic cancer syndrome | 33 | Apr 21, 2025 |
| Melnick-Needles syndrome | 4 | Apr 21, 2025 |
| Melorheostosis | 3 | Apr 21, 2025 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | 1 | Mar 18, 2025 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 3 | Apr 21, 2025 |
| Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 5 | Apr 21, 2025 |
| Meningioma | 3 | Mar 18, 2025 |
| Menke-Hennekam syndrome 2 | 6 | Apr 21, 2025 |
| Menstrual cycle-dependent periodic fever | 1 | Apr 21, 2025 |
| Merosin deficient congenital muscular dystrophy | 23 | Apr 21, 2025 |
| Mesoaxial synostotic syndactyly with phalangeal reduction | 1 | Mar 18, 2025 |
| Metabolic myopathy due to lactate transporter defect | 1 | Apr 21, 2025 |
| Metachondromatosis | 3 | Apr 21, 2025 |
| Metachromatic leukodystrophy | 4 | Apr 22, 2025 |
| Metachromatic leukodystrophy, juvenile type | 1 | Mar 31, 2021 |
| Metaphyseal anadysplasia 2 | 1 | Mar 18, 2025 |
| Metaphyseal chondrodysplasia, Jansen type | 3 | Apr 21, 2025 |
| Metaphyseal chondrodysplasia, McKusick type | 3 | Mar 18, 2025 |
| Metaphyseal chondrodysplasia, Schmid type | 3 | Mar 18, 2025 |
| Metaphyseal chondrodysplasia, Spahr type | 4 | Apr 21, 2025 |
| Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | 4 | Mar 18, 2025 |
| Metaphyseal dysplasia without hypotrichosis | 3 | Mar 18, 2025 |
| Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | 2 | Apr 21, 2025 |
| Metatropic dysplasia | 1 | Apr 21, 2025 |
| Methylcobalamin deficiency type cblE | 2 | Mar 18, 2025 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 1 | Mar 18, 2025 |
| Methylmalonic aciduria and homocystinuria type cblD | 2 | Mar 18, 2025 |
| Methylmalonic aciduria and homocystinuria type cblF | 1 | Mar 18, 2025 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 5 | Mar 18, 2025 |
| Methylmalonic aciduria, cblA type | 2 | Mar 18, 2025 |
| Methylmalonic aciduria, cblB type | 4 | Apr 21, 2025 |
| Mevalonic aciduria | 1 | Apr 21, 2025 |
| Microcephalic osteodysplastic primordial dwarfism type II | 5 | Apr 21, 2025 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 2 | Mar 18, 2025 |
| Microcephalic primordial dwarfism, Alazami type | 3 | Apr 21, 2025 |
| Microcephaly 1, primary, autosomal recessive | 3 | Mar 18, 2025 |
| Microcephaly 13, primary, autosomal recessive | 1 | Apr 21, 2025 |
| Microcephaly 18, primary, autosomal dominant | 5 | Apr 21, 2025 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 | Mar 18, 2025 |
| Microcephaly 20, primary, autosomal recessive | 2 | Mar 18, 2025 |
| Microcephaly 21, primary, autosomal recessive | 4 | Apr 21, 2025 |
| Microcephaly 24, primary, autosomal recessive | 1 | Apr 21, 2025 |
| Microcephaly 26, primary, autosomal dominant | 1 | Apr 21, 2025 |
| Microcephaly 27, primary, autosomal dominant | 1 | Apr 21, 2025 |
| Microcephaly 3, primary, autosomal recessive | 3 | Mar 18, 2025 |
| Microcephaly 4, primary, autosomal recessive | 1 | Mar 18, 2025 |
| Microcephaly 5, primary, autosomal recessive | 1 | Mar 18, 2025 |
| Microcephaly 6 with or without short stature | 2 | Mar 18, 2025 |
| Microcephaly 6, primary, autosomal recessive | 2 | Apr 21, 2025 |
| Microcephaly 7, primary, autosomal recessive | 2 | Mar 18, 2025 |
| Microcephaly 8, primary, autosomal recessive | 2 | Mar 18, 2025 |
| Microcephaly 9, primary, autosomal recessive | 1 | Mar 18, 2025 |
| Microcephaly and chorioretinopathy 1 | 6 | Apr 21, 2025 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2 | Apr 21, 2025 |
| Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | 2 | Apr 21, 2025 |
| Microcephaly, growth deficiency, seizures, and brain malformations | 1 | Mar 18, 2025 |
| Microcephaly, normal intelligence and immunodeficiency | 26 | Apr 21, 2025 |
| Microcephaly, seizures, and developmental delay | 2 | Mar 18, 2025 |
| Microcephaly, short stature, and limb abnormalities | 3 | Mar 18, 2025 |
| Microcephaly-micromelia syndrome | 2 | Mar 18, 2025 |
| Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | 1 | Mar 18, 2025 |
| Microcornea-myopic chorioretinal atrophy | 1 | Mar 18, 2025 |
| Microcytic anemia with liver iron overload | 1 | Mar 18, 2025 |
| Microform holoprosencephaly | 2 | Mar 18, 2025 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 12 | Apr 21, 2025 |
| Microphthalmia with brain and digit anomalies | 2 | Mar 18, 2025 |
| Microphthalmia, isolated, with coloboma 10 | 1 | Apr 21, 2025 |
| Microphthalmia, isolated, with coloboma 3 | 1 | Mar 18, 2025 |
| Microphthalmia, isolated, with coloboma 5 | 1 | Apr 21, 2025 |
| Microphthalmia, isolated, with coloboma 6 | 10 | Apr 21, 2025 |
| Microphthalmia, isolated, with coloboma 9 | 1 | Mar 18, 2025 |
| Microphthalmia, syndromic 1 | 1 | Apr 21, 2025 |
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 3 | Apr 21, 2025 |
| Microvascular complications of diabetes, susceptibility to, 1 | 2 | Apr 21, 2025 |
| Microvascular complications of diabetes, susceptibility to, 6 | 1 | Apr 21, 2025 |
| Migraine with or without aura, susceptibility to, 1 | 4 | Apr 21, 2025 |
| Migraine, familial hemiplegic, 3 | 7 | Apr 21, 2025 |
| Migraine, with or without aura, susceptibility to, 13 | 2 | Mar 18, 2025 |
| Miller syndrome | 1 | Mar 18, 2025 |
| Mirror movements 1 | 2 | Apr 21, 2025 |
| Mirror movements 1 and/or agenesis of the corpus callosum | 1 | Mar 18, 2025 |
| Mirror movements 4 | 2 | Apr 21, 2025 |
| Mismatch repair cancer syndrome 1 | 86 | Apr 21, 2025 |
| Mismatch repair cancer syndrome 2 | 142 | Apr 21, 2025 |
| Mismatch repair cancer syndrome 3 | 198 | Apr 21, 2025 |
| Mismatch repair cancer syndrome 4 | 102 | Apr 21, 2025 |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 2 | Mar 18, 2025 |
| Mitochondrial DNA depletion syndrome 1 | 19 | Apr 21, 2025 |
| Mitochondrial DNA depletion syndrome 13 | 2 | Mar 18, 2025 |
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 4 | Apr 21, 2025 |
| Mitochondrial DNA depletion syndrome 16 (hepatic type) | 4 | Apr 21, 2025 |
| Mitochondrial DNA depletion syndrome 19 | 1 | Mar 18, 2025 |
| Mitochondrial DNA depletion syndrome 4b | 16 | Apr 21, 2025 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 3 | Apr 21, 2025 |
| Mitochondrial DNA depletion syndrome 8a | 3 | Apr 21, 2025 |
| Mitochondrial DNA depletion syndrome 9 | 3 | Apr 21, 2025 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 | Mar 18, 2025 |
| Mitochondrial DNA depletion syndrome, myopathic form | 2 | Mar 18, 2025 |
| Mitochondrial complex 2 deficiency, nuclear type 3 | 13 | Apr 21, 2025 |
| Mitochondrial complex 2 deficiency, nuclear type 4 | 18 | Apr 21, 2025 |
| Mitochondrial complex I deficiency | 1 | Mar 18, 2025 |
| Mitochondrial complex I deficiency, nuclear type 11 | 1 | Mar 18, 2025 |
| Mitochondrial complex I deficiency, nuclear type 16 | 3 | Apr 21, 2025 |
| Mitochondrial complex I deficiency, nuclear type 17 | 3 | Apr 21, 2025 |
| Mitochondrial complex I deficiency, nuclear type 18 | 1 | Mar 18, 2025 |
| Mitochondrial complex I deficiency, nuclear type 19 | 5 | Apr 21, 2025 |
| Mitochondrial complex I deficiency, nuclear type 2 | 1 | Mar 18, 2025 |
| Mitochondrial complex I deficiency, nuclear type 21 | 3 | Apr 21, 2025 |
| Mitochondrial complex I deficiency, nuclear type 22 | 1 | Apr 21, 2025 |
| Mitochondrial complex I deficiency, nuclear type 24 | 1 | Apr 21, 2025 |
| Mitochondrial complex I deficiency, nuclear type 25 | 1 | Mar 18, 2025 |
| Mitochondrial complex I deficiency, nuclear type 26 | 2 | Apr 21, 2025 |
| Mitochondrial complex I deficiency, nuclear type 27 | 2 | Apr 21, 2025 |
| Mitochondrial complex I deficiency, nuclear type 31 | 1 | Mar 18, 2025 |
| Mitochondrial complex I deficiency, nuclear type 4 | 5 | Apr 21, 2025 |
| Mitochondrial complex I deficiency, nuclear type 5 | 3 | Apr 21, 2025 |
| Mitochondrial complex I deficiency, nuclear type 6 | 1 | Apr 21, 2025 |
| Mitochondrial complex I deficiency, nuclear type 7 | 2 | Apr 21, 2025 |
| Mitochondrial complex I deficiency, nuclear type 8 | 1 | Apr 21, 2025 |
| Mitochondrial complex II deficiency, nuclear type 1 | 36 | Apr 21, 2025 |
| Mitochondrial complex III deficiency nuclear type 1 | 1 | Mar 18, 2025 |
| Mitochondrial complex III deficiency nuclear type 2 | 1 | Apr 21, 2025 |
| Mitochondrial complex III deficiency nuclear type 3 | 2 | Apr 21, 2025 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 2 | Apr 21, 2025 |
| Mitochondrial complex IV deficiency, nuclear type 11 | 2 | Mar 18, 2025 |
| Mitochondrial complex IV deficiency, nuclear type 4 | 2 | Apr 21, 2025 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | 1 | Apr 21, 2025 |
| Mitochondrial disease | 47 | Mar 18, 2025 |
| Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) | 4 | Apr 21, 2025 |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 4 | Apr 21, 2025 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 1 | Mar 18, 2025 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 3 | Mar 18, 2025 |
| Mitochondrial trifunctional protein deficiency 1 | 4 | Apr 21, 2025 |
| Mitochondrial trifunctional protein deficiency 2 | 1 | Apr 21, 2025 |
| Miyoshi muscular dystrophy 1 | 3 | Mar 18, 2025 |
| Miyoshi muscular dystrophy 3 | 2 | Mar 18, 2025 |
| Mohr syndrome | 3 | Apr 21, 2025 |
| Monilethrix | 1 | Mar 18, 2025 |
| Monilethrix-1 | 9 | Apr 21, 2025 |
| Monogenic diabetes | 10 | Mar 18, 2025 |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 4 | Apr 21, 2025 |
| Monosomy 7 myelodysplasia and leukemia syndrome 2 | 11 | Apr 21, 2025 |
| Mosaic variegated aneuploidy syndrome 2 | 2 | Mar 18, 2025 |
| Mowat-Wilson syndrome | 3 | Apr 21, 2025 |
| Moyamoya disease 2 | 12 | Apr 21, 2025 |
| Moyamoya disease with early-onset achalasia | 1 | Mar 18, 2025 |
| Mucolipidosis type II | 8 | Apr 21, 2025 |
| Mucolipidosis type IV | 5 | Apr 21, 2025 |
| Mucopolysaccharidosis type 7 | 8 | Apr 21, 2025 |
| Mucopolysaccharidosis, MPS-II | 2 | Apr 21, 2025 |
| Mucopolysaccharidosis, MPS-III-A | 8 | Apr 21, 2025 |
| Mucopolysaccharidosis, MPS-III-B | 5 | Apr 21, 2025 |
| Mucopolysaccharidosis, MPS-III-C | 7 | Apr 21, 2025 |
| Mucopolysaccharidosis, MPS-III-D | 1 | Apr 21, 2025 |
| Mucopolysaccharidosis, MPS-IV-A | 2 | Apr 21, 2025 |
| Mucopolysaccharidosis, MPS-IV-B | 3 | Apr 21, 2025 |
| Mucopolysaccharidosis-plus syndrome | 3 | Mar 18, 2025 |
| Muenke syndrome | 2 | Apr 21, 2025 |
| Muir-Torré syndrome | 368 | Apr 21, 2025 |
| Mulibrey nanism syndrome | 3 | Apr 21, 2025 |
| Mullegama-Klein-Martinez syndrome | 2 | Apr 21, 2025 |
| Mullerian aplasia and hyperandrogenism | 2 | Apr 21, 2025 |
| Multicentric osteolysis, nodulosis, and arthropathy | 1 | Mar 18, 2025 |
| Multiple acyl-CoA dehydrogenase deficiency | 3 | Apr 21, 2025 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 3 | Apr 21, 2025 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 4 | Apr 21, 2025 |
| Multiple cutaneous and mucosal venous malformations | 7 | Apr 21, 2025 |
| Multiple endocrine neoplasia | 1 | Mar 18, 2025 |
| Multiple endocrine neoplasia type 2A | 37 | Apr 21, 2025 |
| Multiple endocrine neoplasia type 2B | 26 | Apr 21, 2025 |
| Multiple endocrine neoplasia type 4 | 1 | Apr 21, 2025 |
| Multiple endocrine neoplasia, type 1 | 21 | Apr 21, 2025 |
| Multiple epiphyseal dysplasia type 1 | 1 | Mar 31, 2021 |
| Multiple epiphyseal dysplasia type 4 | 8 | Apr 21, 2025 |
| Multiple epiphyseal dysplasia type 5 | 9 | Apr 21, 2025 |
| Multiple epiphyseal dysplasia, Al-Gazali type | 8 | Apr 21, 2025 |
| Multiple fibroadenoma of the breast | 3 | Apr 21, 2025 |
| Multiple mitochondrial dysfunctions syndrome 6 | 1 | Apr 21, 2025 |
| Multiple mitochondrial dysfunctions syndrome 7 | 1 | Apr 21, 2025 |
| Multiple myeloma | 1 | Apr 21, 2025 |
| Multiple sulfatase deficiency | 1 | Apr 21, 2025 |
| Multiple symmetric lipomatosis | 1 | Mar 18, 2025 |
| Multiple synostoses syndrome 2 | 2 | Apr 21, 2025 |
| Multiple synostoses syndrome 4 | 7 | Apr 21, 2025 |
| Mungan syndrome | 2 | Apr 21, 2025 |
| Muscle AMP deaminase deficiency | 9 | Mar 18, 2025 |
| Muscular dystrophy | 2 | Mar 31, 2021 |
| Muscular dystrophy, congenital, with or without seizures | 1 | Apr 21, 2025 |
| Muscular dystrophy, limb-girdle, autosomal dominant | 2 | Mar 18, 2025 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 4 | Apr 21, 2025 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 21 | Apr 21, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 2 | Apr 21, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 2 | Mar 18, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 13 | Apr 21, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 3 | Mar 18, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 4 | Apr 21, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 3 | Mar 18, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 3 | Apr 21, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 1 | Mar 18, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 3 | Mar 18, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 1 | Mar 31, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 | Mar 18, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 4 | Apr 21, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 3 | Mar 18, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 4 | Apr 21, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 3 | Mar 18, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 2 | Apr 21, 2025 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | 1 | Mar 18, 2025 |
| Muscular dystrophy-dystroglycanopathy type B5 | 3 | Apr 21, 2025 |
| Mutilating keratoderma | 16 | Apr 21, 2025 |
| Myasthenic syndrome, congenital, 22 | 7 | Apr 21, 2025 |
| Myasthenic syndrome, congenital, 24, presynaptic | 3 | Apr 21, 2025 |
| Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | 2 | Apr 21, 2025 |
| Myelodysplastic syndrome | 3 | Apr 21, 2025 |
| Myeloperoxidase deficiency | 10 | Apr 21, 2025 |
| Myeloproliferative disorder, chronic, with eosinophilia | 6 | Apr 21, 2025 |
| Myhre syndrome | 10 | Apr 21, 2025 |
| Myocardial infarction, susceptibility to | 2 | Apr 21, 2025 |
| Myoclonic dystonia 11 | 1 | Apr 21, 2025 |
| Myoclonic dystonia 26 | 1 | Apr 21, 2025 |
| Myoclonic epilepsy of Lafora 1 | 5 | Apr 21, 2025 |
| Myoclonic epilepsy of Lafora 2 | 4 | Apr 21, 2025 |
| Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2 | Apr 21, 2025 |
| Myoclonus, familial | 1 | Mar 18, 2025 |
| Myoclonus, familial, 2 | 2 | Apr 21, 2025 |
| Myoclonus, intractable, neonatal | 1 | Apr 21, 2025 |
| Myofibrillar myopathy 11 | 5 | Apr 21, 2025 |
| Myofibrillar myopathy 3 | 2 | Mar 18, 2025 |
| Myofibrillar myopathy 4 | 4 | Apr 21, 2025 |
| Myofibrillar myopathy 5 | 12 | Apr 21, 2025 |
| Myofibrillar myopathy 6 | 1 | Mar 18, 2025 |
| Myofibromatosis, infantile, 1 | 7 | Apr 21, 2025 |
| Myofibromatosis, infantile, 2 | 11 | Apr 21, 2025 |
| Myoglobinuria, acute recurrent, autosomal recessive | 2 | Mar 18, 2025 |
| Myopathy due to calsequestrin and SERCA1 protein overload | 2 | Mar 18, 2025 |
| Myopathy with abnormal lipid metabolism | 1 | Mar 18, 2025 |
| Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | 2 | Mar 18, 2025 |
| Myopathy with tubular aggregates | 1 | Mar 18, 2025 |
| Myopathy, centronuclear, 5 | 4 | Apr 21, 2025 |
| Myopathy, congenital, progressive, with scoliosis | 2 | Apr 21, 2025 |
| Myopathy, congenital, with tremor | 5 | Apr 21, 2025 |
| Myopathy, distal, 5 | 3 | Apr 21, 2025 |
| Myopathy, distal, with rimmed vacuoles | 4 | Apr 21, 2025 |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 3 | Apr 21, 2025 |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 2 | Apr 21, 2025 |
| Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | 1 | Apr 21, 2025 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 131 | Apr 21, 2025 |
| Myopathy, myosin storage, autosomal recessive | 8 | Apr 21, 2025 |
| Myopathy, proximal, and ophthalmoplegia | 9 | Apr 21, 2025 |
| Myopathy, reducing body, X-linked, childhood-onset | 1 | Apr 21, 2025 |
| Myopathy, reducing body, X-linked, early-onset, severe | 1 | Apr 21, 2025 |
| Myopathy, tubular aggregate, 1 | 3 | Apr 21, 2025 |
| Myopathy, tubular aggregate, 2 | 2 | Apr 21, 2025 |
| Myopia 21, autosomal dominant | 2 | Apr 21, 2025 |
| Myopia 22, autosomal dominant | 2 | Apr 21, 2025 |
| Myopia 24, autosomal dominant | 7 | Apr 21, 2025 |
| Myopia 25, autosomal dominant | 4 | Apr 21, 2025 |
| Myopia 26, X-linked, female-limited | 1 | Apr 21, 2025 |
| Myopia 27 | 5 | Apr 21, 2025 |
| Myopia 6 | 5 | Apr 21, 2025 |
| Myopia, high, with cataract and vitreoretinal degeneration | 1 | Mar 18, 2025 |
| Myosclerosis | 2 | Apr 21, 2025 |
| Myosin storage myopathy | 8 | Apr 21, 2025 |
| NAD(P)HX dehydratase deficiency | 2 | Apr 21, 2025 |
| NEK9-related lethal skeletal dysplasia | 1 | Mar 18, 2025 |
| NMNAT1-related retinopathy | 1 | Mar 18, 2025 |
| NOS1-related disorder | 1 | Apr 21, 2025 |
| NPHP3-related Meckel-like syndrome | 3 | Apr 21, 2025 |
| NQO1-related disorder | 1 | Apr 21, 2025 |
| NRP2-related disorder | 1 | Apr 21, 2025 |
| NRXN2-related disorder | 1 | Mar 18, 2025 |
| NTHL1-deficiency tumor predisposition syndrome | 6 | Mar 18, 2025 |
| NUDT15-related disorder | 1 | Mar 18, 2025 |
| Naegeli-Franceschetti-Jadassohn syndrome | 3 | Apr 21, 2025 |
| Nager syndrome | 1 | Apr 21, 2025 |
| Nance-Horan syndrome | 1 | Apr 21, 2025 |
| Nanophthalmos 2 | 4 | Mar 18, 2025 |
| Nasopharyngeal carcinoma | 1 | Apr 21, 2025 |
| Nasopharyngeal carcinoma, susceptibility to, 3 | 1 | Mar 18, 2025 |
| Naxos disease | 6 | Apr 21, 2025 |
| Nemaline myopathy 10 | 1 | Apr 21, 2025 |
| Nemaline myopathy 2 | 38 | Apr 21, 2025 |
| Nemaline myopathy 5 | 1 | Apr 21, 2025 |
| Nemaline myopathy 5B, autosomal recessive, childhood-onset | 1 | Apr 21, 2025 |
| Nemaline myopathy 5C, autosomal dominant | 1 | Apr 21, 2025 |
| Nemaline myopathy 6 | 1 | Apr 21, 2025 |
| Nemaline myopathy 8 | 3 | Apr 21, 2025 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 1 | Mar 18, 2025 |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | 2 | Mar 18, 2025 |
| Neonatal inflammatory skin and bowel disease | 1 | Mar 18, 2025 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 1 | Apr 21, 2025 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 1 | Apr 21, 2025 |
| Neonatal severe primary hyperparathyroidism | 2 | Mar 18, 2025 |
| Nephroblastoma | 1 | Mar 18, 2025 |
| Nephrolithiasis susceptibility caused by SLC26A1 | 4 | Apr 21, 2025 |
| Nephronophthisis 1 | 4 | Apr 21, 2025 |
| Nephronophthisis 11 | 15 | Apr 21, 2025 |
| Nephronophthisis 12 | 8 | Apr 21, 2025 |
| Nephronophthisis 13 | 9 | Apr 21, 2025 |
| Nephronophthisis 14 | 5 | Apr 21, 2025 |
| Nephronophthisis 15 | 3 | Mar 18, 2025 |
| Nephronophthisis 16 | 2 | Mar 18, 2025 |
| Nephronophthisis 20 | 2 | Mar 18, 2025 |
| Nephronophthisis 3 | 3 | Apr 21, 2025 |
| Nephronophthisis 4 | 11 | Apr 21, 2025 |
| Nephronophthisis 7 | 2 | Apr 21, 2025 |
| Nephronophthisis 9 | 1 | Mar 18, 2025 |
| Nephrotic syndrome 14 | 1 | Mar 18, 2025 |
| Nephrotic syndrome, type 10 | 1 | Apr 21, 2025 |
| Nephrotic syndrome, type 12 | 2 | Mar 18, 2025 |
| Nephrotic syndrome, type 17 | 1 | Mar 18, 2025 |
| Nephrotic syndrome, type 19 | 1 | Mar 18, 2025 |
| Nephrotic syndrome, type 2 | 4 | Mar 18, 2025 |
| Nephrotic syndrome, type 20 | 4 | Apr 21, 2025 |
| Nephrotic syndrome, type 21 | 1 | Mar 18, 2025 |
| Nephrotic syndrome, type 3 | 6 | Apr 21, 2025 |
| Nephrotic syndrome, type 9 | 2 | Mar 18, 2025 |
| Netherton syndrome | 3 | Apr 21, 2025 |
| Neu-Laxova syndrome 1 | 2 | Apr 21, 2025 |
| Neu-Laxova syndrome 2 | 1 | Apr 21, 2025 |
| Neural tube defects, folate-sensitive | 10 | Apr 21, 2025 |
| Neural tube defects, susceptibility to | 6 | Apr 21, 2025 |
| Neuralgic amyotrophy | 1 | Mar 18, 2025 |
| Neuroblastoma | 1 | Mar 18, 2025 |
| Neuroblastoma, susceptibility to, 1 | 9 | Apr 21, 2025 |
| Neuroblastoma, susceptibility to, 3 | 7 | Mar 18, 2025 |
| Neurocirculatory asthenia | 3 | Apr 21, 2025 |
| Neurodegeneration with ataxia and late-onset optic atrophy | 35 | Apr 21, 2025 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 3 | Apr 21, 2025 |
| Neurodegeneration with brain iron accumulation | 1 | Mar 18, 2025 |
| Neurodegeneration with brain iron accumulation 2B | 8 | Apr 21, 2025 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Apr 21, 2025 |
| Neurodegeneration with brain iron accumulation 6 | 4 | Mar 18, 2025 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 3 | Apr 21, 2025 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 2 | Apr 21, 2025 |
| Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | 2 | Apr 21, 2025 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 2 | Apr 21, 2025 |
| Neurodevelopmental disorder with absent language and variable seizures | 4 | Apr 21, 2025 |
| Neurodevelopmental disorder with alopecia and brain abnormalities | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | 4 | Mar 18, 2025 |
| Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | 4 | Apr 21, 2025 |
| Neurodevelopmental disorder with central and peripheral motor dysfunction | 3 | Apr 21, 2025 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 3 | Mar 18, 2025 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 11 | Apr 21, 2025 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 3 | Apr 21, 2025 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 1 | Mar 18, 2025 |
| Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | 2 | Apr 21, 2025 |
| Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 1 | Mar 18, 2025 |
| Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 2 | Apr 21, 2025 |
| Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | 1 | Mar 18, 2025 |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 1 | Mar 18, 2025 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 4 | Apr 21, 2025 |
| Neurodevelopmental disorder with involuntary movements | 3 | Apr 21, 2025 |
| Neurodevelopmental disorder with microcephaly and dysmorphic facies | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 1 | Mar 18, 2025 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 1 | Mar 18, 2025 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 3 | Mar 18, 2025 |
| Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 7 | Apr 21, 2025 |
| Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 2 | Mar 18, 2025 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 5 | Apr 21, 2025 |
| Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 2 | Apr 21, 2025 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 1 | Mar 18, 2025 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 2 | Apr 21, 2025 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 1 | Mar 18, 2025 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 2 | Apr 21, 2025 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 5 | Mar 18, 2025 |
| Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with seizures and brain atrophy | 2 | Apr 21, 2025 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 5 | Apr 21, 2025 |
| Neurodevelopmental disorder with seizures and speech and walking impairment | 1 | Mar 18, 2025 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 1 | Mar 18, 2025 |
| Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | 1 | Mar 18, 2025 |
| Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 8 | Apr 21, 2025 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 1 | Mar 18, 2025 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 1 | Apr 21, 2025 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 2 | Mar 18, 2025 |
| Neuroferritinopathy | 2 | Apr 21, 2025 |
| Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | 1 | Mar 18, 2025 |
| Neurofibromatosis, familial spinal | 22 | Apr 21, 2025 |
| Neurofibromatosis, type 1 | 78 | Apr 21, 2025 |
| Neurofibromatosis, type 2 | 8 | Apr 21, 2025 |
| Neurofibromatosis-Noonan syndrome | 22 | Apr 21, 2025 |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 1 | Apr 21, 2025 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | 1 | Mar 18, 2025 |
| Neurometabolic disorder due to serine deficiency | 2 | Mar 18, 2025 |
| Neuromuscular disease | 1 | Mar 18, 2025 |
| Neuromuscular disease and ocular or auditory anomalies with or without seizures | 2 | Mar 18, 2025 |
| Neuronal ceroid lipofuscinosis | 8 | Mar 18, 2025 |
| Neuronal ceroid lipofuscinosis 1 | 4 | Apr 21, 2025 |
| Neuronal ceroid lipofuscinosis 2 | 3 | Apr 21, 2025 |
| Neuronal ceroid lipofuscinosis 5 | 1 | Mar 18, 2025 |
| Neuronal ceroid lipofuscinosis 7 | 3 | Apr 21, 2025 |
| Neuronal ceroid lipofuscinosis 8 | 1 | Mar 18, 2025 |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 1 | Mar 18, 2025 |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | 3 | Apr 21, 2025 |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 | Apr 21, 2025 |
| Neuronopathy, distal hereditary motor, autosomal recessive 10 | 1 | Mar 18, 2025 |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 10 | Apr 21, 2025 |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 1 | Mar 18, 2025 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 3 | Apr 21, 2025 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 2 | Mar 18, 2025 |
| Neuronopathy, distal hereditary motor, type 2B | 1 | Apr 21, 2025 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Apr 21, 2025 |
| Neuronopathy, distal hereditary motor, type 5B | 3 | Apr 21, 2025 |
| Neuronopathy, distal hereditary motor, type 7B | 2 | Apr 21, 2025 |
| Neurooculocardiogenitourinary syndrome | 4 | Apr 21, 2025 |
| Neuropathy, congenital hypomyelinating, 2 | 1 | Apr 21, 2025 |
| Neuropathy, congenital hypomyelinating, 3 | 1 | Mar 18, 2025 |
| Neuropathy, hereditary motor and sensory, type 6A | 1 | Mar 18, 2025 |
| Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | 1 | Apr 21, 2025 |
| Neuropathy, hereditary sensory and autonomic, type 1A | 3 | Apr 21, 2025 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 30 | Apr 21, 2025 |
| Neuropathy, hereditary sensory and autonomic, type 2B | 2 | Mar 18, 2025 |
| Neuropathy, hereditary sensory, type 1F | 2 | Mar 18, 2025 |
| Neuropathy, hereditary sensory, type 2C | 6 | Apr 21, 2025 |
| Neutral 1 amino acid transport defect | 7 | Apr 21, 2025 |
| Neutral lipid storage myopathy | 1 | Mar 18, 2025 |
| Neutropenia, severe congenital, 11, autosomal dominant | 1 | Apr 21, 2025 |
| Neutropenia, severe congenital, 2, autosomal dominant | 1 | Apr 21, 2025 |
| Neutrophil immunodeficiency syndrome | 1 | Apr 21, 2025 |
| Newfoundland cone-rod dystrophy | 2 | Apr 21, 2025 |
| Nicolaides-Baraitser syndrome | 2 | Apr 21, 2025 |
| Niemann-Pick disease, type A | 11 | Apr 21, 2025 |
| Niemann-Pick disease, type B | 11 | Apr 21, 2025 |
| Niemann-Pick disease, type C1 | 17 | Apr 21, 2025 |
| Niemann-Pick disease, type C2 | 3 | Apr 21, 2025 |
| Night blindness, congenital stationary, type1i | 8 | Apr 21, 2025 |
| Nijmegen breakage syndrome-like disorder | 3 | Apr 21, 2025 |
| Nizon-Isidor syndrome | 3 | Apr 21, 2025 |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 1 | Apr 21, 2025 |
| Non-syndromic X-linked intellectual disability | 4 | Mar 18, 2025 |
| Non-syndromic male infertility due to sperm motility disorder | 3 | Mar 18, 2025 |
| Nonarteritic anterior ischemic optic neuropathy, susceptibility to | 3 | Apr 21, 2025 |
| Nonimmune chronic idiopathic neutropenia of adults | 1 | Apr 21, 2025 |
| Nonpapillary renal cell carcinoma | 35 | Apr 21, 2025 |
| Nonsyndromic congenital nail disorder 3 | 5 | Apr 21, 2025 |
| Nonsyndromic congenital nail disorder 8 | 3 | Mar 18, 2025 |
| Nonsyndromic genetic hearing loss | 33 | Mar 18, 2025 |
| Noonan syndrome | 11 | Mar 18, 2025 |
| Noonan syndrome 1 | 6 | Apr 21, 2025 |
| Noonan syndrome 10 | 21 | Apr 21, 2025 |
| Noonan syndrome 2 | 22 | Apr 21, 2025 |
| Noonan syndrome 5 | 3 | Apr 21, 2025 |
| Noonan syndrome 8 | 2 | Apr 21, 2025 |
| Noonan syndrome 9 | 4 | Apr 21, 2025 |
| Noonan syndrome with multiple lentigines | 1 | Mar 18, 2025 |
| Normal pressure hydrocephalus | 5 | Apr 21, 2025 |
| Norman-Roberts syndrome | 10 | Apr 21, 2025 |
| Normophosphatemic familial tumoral calcinosis | 13 | Apr 21, 2025 |
| Norum disease | 1 | Apr 21, 2025 |
| Nystagmus 1, congenital, X-linked | 1 | Mar 18, 2025 |
| Nystagmus 6, congenital, X-linked | 1 | Apr 21, 2025 |
| O'Donnell-Luria-Rodan syndrome | 8 | Apr 21, 2025 |
| OBESITY (BMIQ9), SUSCEPTIBILITY TO | 1 | Apr 21, 2025 |
| Obesity due to leptin receptor gene deficiency | 1 | Mar 18, 2025 |
| Obesity due to pro-opiomelanocortin deficiency | 1 | Apr 21, 2025 |
| Obesity due to prohormone convertase I deficiency | 3 | Apr 21, 2025 |
| Obesity, hyperphagia, and developmental delay | 1 | Apr 21, 2025 |
| Occult macular dystrophy | 23 | Apr 21, 2025 |
| Ocular albinism, type I | 1 | Apr 21, 2025 |
| Oculocerebrodental syndrome | 1 | Apr 21, 2025 |
| Oculocerebrofacial syndrome, Kaufman type | 2 | Apr 21, 2025 |
| Oculocutaneous albinism type 1 | 1 | Mar 18, 2025 |
| Oculocutaneous albinism type 1A | 12 | Apr 21, 2025 |
| Oculocutaneous albinism type 1B | 11 | Apr 21, 2025 |
| Oculocutaneous albinism type 3 | 5 | Apr 21, 2025 |
| Oculocutaneous albinism type 4 | 3 | Mar 18, 2025 |
| Oculocutaneous albinism type 7 | 2 | Apr 21, 2025 |
| Oculocutaneous albinism type 8 | 4 | Apr 21, 2025 |
| Oculodentodigital dysplasia | 3 | Apr 21, 2025 |
| Oculodentodigital dysplasia, autosomal recessive | 3 | Apr 21, 2025 |
| Oculofaciocardiodental syndrome | 6 | Mar 18, 2025 |
| Oculogastrointestinal-neurodevelopmental syndrome | 2 | Mar 18, 2025 |
| Oculomaxillofacial dysostosis | 5 | Apr 21, 2025 |
| Oculootoradial syndrome | 6 | Apr 21, 2025 |
| Oculopharyngodistal myopathy 1 | 2 | Apr 21, 2025 |
| Oculopharyngodistal myopathy 2 | 1 | Apr 21, 2025 |
| Oculotrichoanal syndrome | 6 | Apr 21, 2025 |
| Odonto-onycho-dermal dysplasia | 6 | Apr 21, 2025 |
| Odontochondrodysplasia 1 | 4 | Apr 21, 2025 |
| Ogden syndrome | 1 | Apr 21, 2025 |
| Oguchi disease-1 | 3 | Apr 21, 2025 |
| Oguchi disease-2 | 1 | Apr 21, 2025 |
| Oligodontia-cancer predisposition syndrome | 17 | Mar 18, 2025 |
| Olmsted syndrome 1 | 3 | Apr 21, 2025 |
| Oocyte maturation defect 2 | 2 | Mar 18, 2025 |
| Oocyte maturation defect 3 | 1 | Apr 21, 2025 |
| Oocyte maturation defect 5 | 1 | Mar 18, 2025 |
| Oocyte maturation defect 6 | 1 | Apr 21, 2025 |
| Oocyte maturation defect 7 | 4 | Apr 21, 2025 |
| Oocyte/zygote/embryo maturation arrest 19 | 1 | Mar 18, 2025 |
| Opsismodysplasia | 1 | Apr 21, 2025 |
| Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 2 | Mar 18, 2025 |
| Optic atrophy 12 | 2 | Mar 18, 2025 |
| Optic atrophy 16 | 2 | Apr 21, 2025 |
| Optic atrophy 3 | 2 | Apr 21, 2025 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 4 | Apr 21, 2025 |
| Ornithine aminotransferase deficiency | 2 | Apr 21, 2025 |
| Orofacial cleft 15 | 1 | Apr 21, 2025 |
| Orofacial-digital syndrome IV | 1 | Apr 21, 2025 |
| Orofaciodigital syndrome I | 1 | Apr 21, 2025 |
| Orofaciodigital syndrome V | 1 | Mar 18, 2025 |
| Orofaciodigital syndrome XV | 4 | Mar 18, 2025 |
| Orofaciodigital syndrome type 14 | 1 | Mar 18, 2025 |
| Orofaciodigital syndrome type 6 | 4 | Apr 21, 2025 |
| Orthostatic hypotension 1 | 2 | Mar 18, 2025 |
| Osteoarthritis susceptibility 2 | 7 | Apr 21, 2025 |
| Osteochondritis dissecans | 9 | Mar 18, 2025 |
| Osteochondrodysplasia, brachydactyly, and overlapping malformed digits | 1 | Mar 18, 2025 |
| Osteocraniostenosis | 2 | Apr 21, 2025 |
| Osteofibrous dysplasia | 22 | Apr 21, 2025 |
| Osteogenesis imperfecta type 11 | 2 | Mar 18, 2025 |
| Osteogenesis imperfecta type 13 | 1 | Mar 18, 2025 |
| Osteogenesis imperfecta type 5 | 1 | Apr 21, 2025 |
| Osteogenesis imperfecta type 6 | 2 | Apr 21, 2025 |
| Osteogenesis imperfecta type 7 | 2 | Mar 18, 2025 |
| Osteogenesis imperfecta type 8 | 6 | Apr 21, 2025 |
| Osteogenesis imperfecta type III | 1 | Apr 21, 2025 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Apr 21, 2025 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Apr 21, 2025 |
| Osteoglophonic dysplasia | 5 | Apr 21, 2025 |
| Osteootohepatoenteric syndrome | 1 | Apr 21, 2025 |
| Osteopathia striata with cranial sclerosis | 2 | Mar 18, 2025 |
| Osteopetrosis, autosomal dominant 3 | 1 | Apr 21, 2025 |
| Osteoporosis | 2 | Apr 21, 2025 |
| Osteoporosis with pseudoglioma | 13 | Apr 21, 2025 |
| Otitis media, susceptibility to | 2 | Mar 18, 2025 |
| Oto-palato-digital syndrome, type I | 4 | Apr 21, 2025 |
| Oto-palato-digital syndrome, type II | 4 | Apr 21, 2025 |
| Otofaciocervical syndrome 1 | 1 | Apr 21, 2025 |
| Otosclerosis 12 | 18 | Apr 21, 2025 |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 2 | Apr 21, 2025 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2 | Apr 21, 2025 |
| Ovarian cancer | 104 | Apr 21, 2025 |
| Ovarian dysgenesis 1 | 4 | Apr 21, 2025 |
| Ovarian dysgenesis 10 | 1 | Apr 21, 2025 |
| Ovarian dysgenesis 2 | 1 | Mar 18, 2025 |
| Ovarian dysgenesis 5 | 3 | Apr 21, 2025 |
| Ovarian dysgenesis 7 | 1 | Apr 21, 2025 |
| Ovarian dysgenesis 9 | 1 | Mar 18, 2025 |
| Ovarian hyperstimulation syndrome | 3 | Apr 21, 2025 |
| Overhydrated hereditary stomatocytosis | 2 | Apr 21, 2025 |
| P5CS deficiency | 2 | Mar 18, 2025 |
| PALB2-related cancer predisposition | 18 | Mar 18, 2025 |
| PAX6-related ocular dysgenesis | 1 | Mar 18, 2025 |
| PDE6A-related retinopathy | 1 | Mar 18, 2025 |
| PEHO syndrome | 1 | Apr 21, 2025 |
| PGM1-congenital disorder of glycosylation | 3 | Apr 21, 2025 |
| PGRMC1-related disorder | 1 | Apr 21, 2025 |
| PHGDH deficiency | 2 | Apr 21, 2025 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2 | Apr 21, 2025 |
| PLA2G6-associated neurodegeneration | 1 | Mar 18, 2025 |
| PLA2G7-related disorder | 2 | Mar 18, 2025 |
| PLIN1-related familial partial lipodystrophy | 4 | Apr 21, 2025 |
| PML-related disorder | 4 | Apr 21, 2025 |
| PMM2-congenital disorder of glycosylation | 5 | Apr 21, 2025 |
| PNPLA6-related spastic paraplegia with or without ataxia | 1 | Mar 18, 2025 |
| POLE-related polyposis and colorectal cancer syndrome | 32 | Mar 18, 2025 |
| POLQ-related disorder | 19 | Apr 21, 2025 |
| POLR3A-related disorder | 2 | Mar 18, 2025 |
| PPARG-related familial partial lipodystrophy | 1 | Apr 21, 2025 |
| PRIMPOL-related disorder | 1 | Mar 18, 2025 |
| PRKAG3-related disorder | 1 | Mar 18, 2025 |
| PSAT deficiency | 1 | Apr 21, 2025 |
| PTEN hamartoma tumor syndrome | 23 | Mar 18, 2025 |
| PTPN13-related disorder | 17 | Apr 21, 2025 |
| PTPRH-related disorder | 1 | Apr 21, 2025 |
| PULMONARY ALVEOLAR MICROLITHIASIS | 7 | Apr 21, 2025 |
| PUM1-associated developmental disability-ataxia-seizure syndrome | 2 | Apr 21, 2025 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Apr 21, 2025 |
| PYCR1-related de Barsy syndrome | 6 | Apr 21, 2025 |
| Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | 2 | Apr 21, 2025 |
| Pachyonychia congenita 1 | 2 | Apr 21, 2025 |
| Pachyonychia congenita 2 | 4 | Apr 21, 2025 |
| Pachyonychia congenita 3 | 2 | Apr 21, 2025 |
| Pachyonychia congenita 4 | 3 | Apr 21, 2025 |
| Paganini-Miozzo syndrome | 1 | Apr 21, 2025 |
| Paget disease of bone 3 | 4 | Apr 21, 2025 |
| Paget disease of bone 6 | 4 | Apr 21, 2025 |
| Pallister-Hall syndrome | 5 | Apr 21, 2025 |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 1 | Mar 18, 2025 |
| Palmoplantar keratoderma, Bothnian type | 1 | Apr 21, 2025 |
| Palmoplantar keratoderma, Nagashima type | 1 | Mar 18, 2025 |
| Palmoplantar keratoderma, nonepidermolytic, focal 1 | 2 | Apr 21, 2025 |
| Palmoplantar keratoderma, punctate type 1A | 1 | Mar 18, 2025 |
| Palmoplantar keratoderma-deafness syndrome | 16 | Apr 21, 2025 |
| Palmoplantar keratoderma-esophageal carcinoma syndrome | 2 | Apr 21, 2025 |
| Pancreatic agenesis 1 | 1 | Apr 21, 2025 |
| Pancreatic cancer, susceptibility to, 1 | 11 | Apr 21, 2025 |
| Pancreatic cancer, susceptibility to, 2 | 51 | Apr 21, 2025 |
| Pancreatic cancer, susceptibility to, 3 | 72 | Apr 21, 2025 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 4 | Apr 21, 2025 |
| Pancreatic insufficiency-anemia-hyperostosis syndrome | 1 | Apr 21, 2025 |
| Pancreatitis | 1 | Dec 8, 2022 |
| Pancytopenia due to IKZF1 mutations | 1 | Mar 18, 2025 |
| Pancytopenia-developmental delay syndrome | 4 | Apr 21, 2025 |
| Panhypopituitarism, X-linked | 3 | Apr 21, 2025 |
| Panic disorder 1 | 1 | Apr 21, 2025 |
| Papillary renal cell carcinoma type 1 | 31 | Apr 21, 2025 |
| Papillary thyroid carcinoma | 1 | Mar 31, 2021 |
| Papillon-Lefèvre syndrome | 4 | Mar 18, 2025 |
| Parastremmatic dwarfism | 1 | Apr 21, 2025 |
| Parathyroid carcinoma | 1 | Mar 18, 2025 |
| Parietal foramina 2 | 2 | Mar 18, 2025 |
| Parkinson disease 11, autosomal dominant, susceptibility to | 5 | Apr 21, 2025 |
| Parkinson disease 13, autosomal dominant, susceptibility to | 1 | Apr 21, 2025 |
| Parkinson disease 17 | 3 | Apr 21, 2025 |
| Parkinson disease 24, autosomal dominant, susceptibility to | 3 | Mar 18, 2025 |
| Parkinson disease, late-onset | 4 | Apr 21, 2025 |
| Parkinsonian-pyramidal syndrome | 3 | Apr 21, 2025 |
| Paroxysmal extreme pain disorder | 7 | Apr 21, 2025 |
| Paroxysmal nocturnal hemoglobinuria 2 | 1 | Apr 21, 2025 |
| Partial androgen insensitivity syndrome | 1 | Mar 18, 2025 |
| Patent ductus arteriosus 2 | 1 | Apr 21, 2025 |
| Patent ductus arteriosus 3 | 3 | Apr 21, 2025 |
| Patterned macular dystrophy 1 | 4 | Apr 21, 2025 |
| Patterned macular dystrophy 2 | 8 | Apr 21, 2025 |
| Patterned macular dystrophy 3 | 1 | Apr 21, 2025 |
| Peeling skin syndrome 4 | 1 | Mar 18, 2025 |
| Peeling skin syndrome 5 | 2 | Mar 18, 2025 |
| Peeling skin syndrome 6 | 3 | Mar 18, 2025 |
| Pelger-Huët anomaly | 4 | Apr 21, 2025 |
| Pendred syndrome | 17 | Apr 21, 2025 |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 3 | Apr 21, 2025 |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 3 | Apr 21, 2025 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 9 | Apr 21, 2025 |
| Periventricular nodular heterotopia 6 | 1 | Apr 21, 2025 |
| Periventricular nodular heterotopia 7 | 2 | Apr 21, 2025 |
| Periventricular nodular heterotopia 9 | 6 | Apr 21, 2025 |
| Perlman syndrome | 10 | Apr 21, 2025 |
| Peroxisome biogenesis disorder | 10 | Mar 18, 2025 |
| Peroxisome biogenesis disorder 11A (Zellweger) | 1 | Apr 21, 2025 |
| Peroxisome biogenesis disorder 11B | 1 | Apr 21, 2025 |
| Peroxisome biogenesis disorder 12A (Zellweger) | 1 | Apr 21, 2025 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 8 | Apr 21, 2025 |
| Peroxisome biogenesis disorder 1B | 8 | Apr 21, 2025 |
| Peroxisome biogenesis disorder 3A (Zellweger) | 2 | Apr 21, 2025 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 5 | Apr 21, 2025 |
| Peroxisome biogenesis disorder 4B | 5 | Apr 21, 2025 |
| Peroxisome biogenesis disorder 5A (Zellweger) | 1 | Apr 21, 2025 |
| Peroxisome biogenesis disorder 5B | 1 | Apr 21, 2025 |
| Peroxisome biogenesis disorder 9B | 3 | Apr 21, 2025 |
| Peroxisome biogenesis disorder type 3B | 2 | Apr 21, 2025 |
| Perrault syndrome | 1 | Mar 18, 2025 |
| Perrault syndrome 1 | 4 | Apr 21, 2025 |
| Perrault syndrome 2 | 3 | Apr 21, 2025 |
| Perrault syndrome 4 | 1 | Apr 21, 2025 |
| Perrault syndrome 5 | 1 | Apr 21, 2025 |
| Perry syndrome | 1 | Apr 21, 2025 |
| Persistent Mullerian duct syndrome | 3 | Apr 21, 2025 |
| Peutz-Jeghers syndrome | 110 | Apr 21, 2025 |
| Pfeiffer syndrome | 7 | Apr 21, 2025 |
| Phelan-McDermid syndrome | 2 | Apr 21, 2025 |
| Phenylketonuria | 22 | Apr 21, 2025 |
| Pheochromocytoma | 47 | Apr 21, 2025 |
| Pheochromocytoma/paraganglioma syndrome 1 | 13 | Apr 21, 2025 |
| Pheochromocytoma/paraganglioma syndrome 2 | 2 | Apr 21, 2025 |
| Pheochromocytoma/paraganglioma syndrome 3 | 5 | Apr 21, 2025 |
| Pheochromocytoma/paraganglioma syndrome 4 | 20 | Apr 21, 2025 |
| Pheochromocytoma/paraganglioma syndrome 5 | 34 | Apr 21, 2025 |
| Pheochromocytoma/paraganglioma syndrome 6 | 2 | Apr 21, 2025 |
| Phosphate transport defect | 2 | Apr 21, 2025 |
| Phosphoenolpyruvate carboxykinase (GTP) deficiency | 2 | Mar 18, 2025 |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 1 | Apr 21, 2025 |
| Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 2 | Apr 21, 2025 |
| Phosphohydroxylysinuria | 1 | Mar 18, 2025 |
| Phytanic acid storage disease | 4 | Apr 21, 2025 |
| Phytanoyl-CoA hydroxylase deficiency | 1 | Mar 18, 2025 |
| Pick disease | 2 | Apr 21, 2025 |
| Pierson syndrome | 5 | Apr 21, 2025 |
| Pigmentary pallidal degeneration | 2 | Mar 31, 2021 |
| Pigmentary retinal dystrophy | 8 | Apr 21, 2025 |
| Pigmented nodular adrenocortical disease, primary, 2 | 6 | Apr 21, 2025 |
| Pili torti-deafness syndrome | 1 | Mar 18, 2025 |
| Pili torti-developmental delay-neurological abnormalities syndrome | 1 | Apr 21, 2025 |
| Pitt-Hopkins syndrome | 1 | Apr 21, 2025 |
| Pitt-Hopkins-like syndrome 2 | 1 | Apr 21, 2025 |
| Pituitary adenoma 3, multiple types | 7 | Apr 21, 2025 |
| Pituitary adenoma 5, multiple types | 1 | Apr 21, 2025 |
| Pituitary adenoma, growth hormone-secreting, 2 | 2 | Apr 21, 2025 |
| Pituitary hormone deficiency, combined, 1 | 1 | Mar 18, 2025 |
| Pituitary hormone deficiency, combined, 2 | 5 | Apr 21, 2025 |
| Pityriasis rubra pilaris | 2 | Apr 21, 2025 |
| Plasma triglyceride level quantitative trait locus | 1 | Apr 21, 2025 |
| Plasminogen deficiency, type I | 7 | Apr 21, 2025 |
| Platelet-activating factor acetylhydrolase deficiency | 1 | Apr 21, 2025 |
| Platelet-type bleeding disorder 10 | 20 | Apr 21, 2025 |
| Platelet-type bleeding disorder 11 | 1 | Mar 18, 2025 |
| Platelet-type bleeding disorder 15 | 1 | Mar 18, 2025 |
| Platelet-type bleeding disorder 16 | 11 | Apr 21, 2025 |
| Platelet-type bleeding disorder 20 | 7 | Apr 21, 2025 |
| Pleuropulmonary blastoma | 16 | Apr 21, 2025 |
| Polycystic kidney disease | 692 | Feb 3, 2021 |
| Polycystic kidney disease 2 | 86 | Apr 21, 2025 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 3 | Apr 21, 2025 |
| Polycystic kidney disease 4 | 118 | Apr 21, 2025 |
| Polycystic kidney disease 8 | 1 | Mar 18, 2025 |
| Polycystic kidney disease, adult type | 715 | Apr 21, 2025 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | 1 | Apr 21, 2025 |
| Polycystic liver disease 1 | 4 | Apr 21, 2025 |
| Polycystic liver disease 2 | 5 | Apr 21, 2025 |
| Polycystic liver disease 4 with or without kidney cysts | 13 | Apr 21, 2025 |
| Polydactyly, postaxial, type A1 | 5 | Apr 21, 2025 |
| Polydactyly, postaxial, type a10 | 2 | Apr 21, 2025 |
| Polydactyly, postaxial, type a7 | 4 | Mar 18, 2025 |
| Polydactyly-macrocephaly syndrome | 1 | Apr 21, 2025 |
| Polyglandular autoimmune syndrome, type 1 | 13 | Mar 18, 2025 |
| Polyglucosan body myopathy type 1 | 1 | Apr 21, 2025 |
| Polyglucosan body myopathy type 2 | 1 | Mar 18, 2025 |
| Polymerase proofreading-related adenomatous polyposis | 198 | Mar 18, 2025 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 1 | Mar 18, 2025 |
| Polymicrogyria, bilateral perisylvian, autosomal recessive | 1 | Mar 18, 2025 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 1 | Mar 18, 2025 |
| Polyposis syndrome, hereditary mixed, 2 | 25 | Apr 21, 2025 |
| Polysyndactyly 4 | 5 | Apr 21, 2025 |
| Pontocerebellar hypoplasia type 1A | 1 | Mar 18, 2025 |
| Pontocerebellar hypoplasia type 2A | 5 | Apr 21, 2025 |
| Pontocerebellar hypoplasia type 2B | 1 | Mar 18, 2025 |
| Pontocerebellar hypoplasia type 2D | 5 | Apr 21, 2025 |
| Pontocerebellar hypoplasia type 3 | 4 | Apr 21, 2025 |
| Pontocerebellar hypoplasia type 4 | 5 | Apr 21, 2025 |
| Pontocerebellar hypoplasia type 5 | 5 | Apr 21, 2025 |
| Pontocerebellar hypoplasia type 6 | 5 | Apr 21, 2025 |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 1 | Mar 18, 2025 |
| Pontocerebellar hypoplasia, type 12 | 2 | Mar 18, 2025 |
| Pontocerebellar hypoplasia, type 13 | 2 | Apr 21, 2025 |
| Pontocerebellar hypoplasia, type 16 | 3 | Apr 21, 2025 |
| Porencephaly 2 | 7 | Apr 21, 2025 |
| Porokeratosis 1, Mibelli type | 2 | Apr 21, 2025 |
| Porokeratosis 3, disseminated superficial actinic type | 1 | Apr 21, 2025 |
| Porokeratosis 7, multiple types | 5 | Apr 21, 2025 |
| Porokeratosis 8, disseminated superficial actinic type | 1 | Apr 21, 2025 |
| Porphobilinogen synthase deficiency | 2 | Mar 18, 2025 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 8 | Apr 21, 2025 |
| Posterior hypospadias | 1 | Mar 18, 2025 |
| Posterior polymorphous corneal dystrophy 2 | 2 | Mar 18, 2025 |
| Posterior polymorphous corneal dystrophy 3 | 1 | Apr 21, 2025 |
| Prader-Willi syndrome | 9 | Apr 21, 2025 |
| Precocious puberty, central, 2 | 2 | Apr 21, 2025 |
| Predisposition to invasive fungal disease due to CARD9 deficiency | 2 | Mar 18, 2025 |
| Preeclampsia/eclampsia 1 | 1 | Apr 21, 2025 |
| Preeclampsia/eclampsia 4 | 3 | Apr 21, 2025 |
| Preeclampsia/eclampsia 5 | 1 | Mar 18, 2025 |
| Pregnancy loss, recurrent, susceptibility to, 1 | 11 | Apr 21, 2025 |
| Pregnancy loss, recurrent, susceptibility to, 2 | 4 | Apr 21, 2025 |
| Preimplantation embryonic lethality 2 | 4 | Mar 18, 2025 |
| Premature ovarian failure 1 | 2 | Apr 21, 2025 |
| Premature ovarian failure 10 | 2 | Mar 18, 2025 |
| Premature ovarian failure 11 | 11 | Apr 21, 2025 |
| Premature ovarian failure 13 | 1 | Apr 21, 2025 |
| Premature ovarian failure 14 | 1 | Mar 18, 2025 |
| Premature ovarian failure 15 | 5 | Apr 21, 2025 |
| Premature ovarian failure 17 | 1 | Apr 21, 2025 |
| Premature ovarian failure 19 | 1 | Mar 18, 2025 |
| Premature ovarian failure 21 | 3 | Apr 21, 2025 |
| Premature ovarian failure 2A | 3 | Mar 18, 2025 |
| Premature ovarian failure 2B | 1 | Mar 18, 2025 |
| Premature ovarian failure 5 | 3 | Apr 21, 2025 |
| Premature ovarian failure 6 | 4 | Apr 21, 2025 |
| Premature ovarian failure 8 | 1 | Mar 18, 2025 |
| Premature ovarian failure 9 | 5 | Apr 21, 2025 |
| Presynaptic congenital myasthenic syndrome | 1 | Mar 18, 2025 |
| Pretibial dystrophic epidermolysis bullosa | 2 | Mar 18, 2025 |
| Primary ciliary dyskinesia | 6 | Mar 18, 2025 |
| Primary ciliary dyskinesia 10 | 3 | Mar 18, 2025 |
| Primary ciliary dyskinesia 11 | 1 | Mar 18, 2025 |
| Primary ciliary dyskinesia 12 | 1 | Apr 21, 2025 |
| Primary ciliary dyskinesia 13 | 1 | Mar 18, 2025 |
| Primary ciliary dyskinesia 14 | 3 | Mar 18, 2025 |
| Primary ciliary dyskinesia 15 | 6 | Mar 18, 2025 |
| Primary ciliary dyskinesia 17 | 2 | Apr 21, 2025 |
| Primary ciliary dyskinesia 18 | 1 | Mar 18, 2025 |
| Primary ciliary dyskinesia 19 | 3 | Mar 18, 2025 |
| Primary ciliary dyskinesia 2 | 1 | Mar 18, 2025 |
| Primary ciliary dyskinesia 20 | 2 | Apr 21, 2025 |
| Primary ciliary dyskinesia 21 | 5 | Mar 18, 2025 |
| Primary ciliary dyskinesia 22 | 1 | Mar 18, 2025 |
| Primary ciliary dyskinesia 23 | 1 | Apr 21, 2025 |
| Primary ciliary dyskinesia 24 | 3 | Mar 18, 2025 |
| Primary ciliary dyskinesia 25 | 6 | Apr 21, 2025 |
| Primary ciliary dyskinesia 27 | 1 | Apr 22, 2025 |
| Primary ciliary dyskinesia 28 | 2 | Mar 18, 2025 |
| Primary ciliary dyskinesia 3 | 7 | Mar 18, 2025 |
| Primary ciliary dyskinesia 32 | 1 | Mar 18, 2025 |
| Primary ciliary dyskinesia 5 | 2 | Apr 21, 2025 |
| Primary ciliary dyskinesia 6 | 1 | Mar 18, 2025 |
| Primary ciliary dyskinesia 7 | 10 | Mar 18, 2025 |
| Primary dilated cardiomyopathy | 5 | Mar 18, 2025 |
| Primary dysautonomia | 2 | Mar 18, 2025 |
| Primary erythromelalgia | 7 | Apr 21, 2025 |
| Primary failure of tooth eruption | 2 | Apr 21, 2025 |
| Primary familial polycythemia due to EPO receptor mutation | 7 | Apr 21, 2025 |
| Primary hyperoxaluria type 3 | 6 | Apr 21, 2025 |
| Primary hyperoxaluria, type I | 4 | Mar 18, 2025 |
| Primary hyperoxaluria, type II | 4 | Apr 21, 2025 |
| Primary hypomagnesemia | 2 | Mar 18, 2025 |
| Primary myelofibrosis | 8 | Apr 21, 2025 |
| Primary open angle glaucoma | 3 | Apr 21, 2025 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 15 | Apr 21, 2025 |
| Progressive bulbar palsy of childhood | 1 | Apr 21, 2025 |
| Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | 1 | Apr 21, 2025 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 16 | Apr 21, 2025 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 1 | Apr 21, 2025 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 4 | Apr 21, 2025 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 3 | Apr 21, 2025 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 16 | Apr 21, 2025 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 2 | Mar 18, 2025 |
| Progressive familial heart block type IB | 6 | Apr 21, 2025 |
| Progressive familial heart block, type 1A | 6 | Apr 21, 2025 |
| Progressive familial intrahepatic cholestasis type 1 | 5 | Mar 18, 2025 |
| Progressive familial intrahepatic cholestasis type 2 | 12 | Apr 21, 2025 |
| Progressive familial intrahepatic cholestasis type 3 | 6 | Mar 18, 2025 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 9 | Apr 21, 2025 |
| Progressive myoclonic epilepsy | 2 | Mar 18, 2025 |
| Progressive myoclonic epilepsy type 3 | 2 | Apr 21, 2025 |
| Progressive myoclonic epilepsy type 6 | 1 | Apr 21, 2025 |
| Progressive myoclonic epilepsy type 7 | 1 | Apr 21, 2025 |
| Progressive myoclonic epilepsy type 9 | 1 | Apr 21, 2025 |
| Progressive osseous heteroplasia | 9 | Apr 21, 2025 |
| Progressive retinal dystrophy due to retinol transport defect | 1 | Apr 21, 2025 |
| Progressive sclerosing poliodystrophy | 15 | Apr 21, 2025 |
| Prolidase deficiency | 1 | Apr 21, 2025 |
| Proline dehydrogenase deficiency | 7 | Apr 21, 2025 |
| Prolonged electroretinal response suppression 2 | 2 | Apr 21, 2025 |
| Properdin deficiency, X-linked | 3 | Mar 18, 2025 |
| Propionic acidemia | 4 | Apr 21, 2025 |
| Prostate cancer | 5 | Mar 18, 2025 |
| Prostate cancer, hereditary, 1 | 3 | Apr 21, 2025 |
| Prostate cancer, hereditary, 9 | 34 | Apr 21, 2025 |
| Prostate cancer/brain cancer susceptibility | 1 | Apr 21, 2025 |
| Proteasome-associated autoinflammatory syndrome 1 | 1 | Apr 21, 2025 |
| Proteasome-associated autoinflammatory syndrome 3 | 1 | Mar 18, 2025 |
| Proteasome-associated autoinflammatory syndrome 5 | 1 | Mar 18, 2025 |
| Protein Z deficiency | 1 | Apr 21, 2025 |
| Proteinuria, chronic benign | 2 | Apr 21, 2025 |
| Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 1 | Mar 31, 2021 |
| Protoporphyria, erythropoietic, 1 | 6 | Apr 21, 2025 |
| Protoporphyria, erythropoietic, 2 | 1 | Mar 18, 2025 |
| Pseudo von Willebrand disease | 3 | Apr 21, 2025 |
| Pseudo-Hurler polydystrophy | 8 | Apr 21, 2025 |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 4 | Mar 18, 2025 |
| Pseudohyperaldosteronism type 2 | 2 | Apr 21, 2025 |
| Pseudohypoaldosteronism type 2B | 11 | Apr 21, 2025 |
| Pseudohypoaldosteronism type 2C | 12 | Apr 21, 2025 |
| Pseudohypoaldosteronism type 2D | 3 | Apr 21, 2025 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 4 | Apr 21, 2025 |
| Pseudohypoaldosteronism, type IB2, autosomal recessive | 3 | Apr 21, 2025 |
| Pseudohypoparathyroidism | 1 | Mar 31, 2021 |
| Pseudohypoparathyroidism type 1B | 10 | Apr 21, 2025 |
| Pseudohypoparathyroidism type 1C | 9 | Apr 21, 2025 |
| Pseudohypoparathyroidism type I A | 8 | Apr 21, 2025 |
| Pseudopseudohypoparathyroidism | 9 | Apr 21, 2025 |
| Pseudoxanthoma elasticum, forme fruste | 13 | Apr 21, 2025 |
| Psoriasis 2 | 4 | Apr 21, 2025 |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 2 | Apr 21, 2025 |
| Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | 1 | Apr 21, 2025 |
| Pulmonary alveolar proteinosis with hypogammaglobulinemia | 1 | Apr 21, 2025 |
| Pulmonary arterial hypertension | 28 | Mar 18, 2025 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 | 11 | Apr 21, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 10 | Apr 21, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 3 | Apr 21, 2025 |
| Pulmonary hypertension, primary, 2 | 3 | Apr 21, 2025 |
| Pulmonary hypertension, primary, 4 | 2 | Apr 21, 2025 |
| Pure gonadal dysgenesis 46,XY | 2 | Mar 18, 2025 |
| Pyknodysostosis | 3 | Mar 18, 2025 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 3 | Apr 21, 2025 |
| Pyridoxal phosphate-responsive seizures | 1 | Apr 21, 2025 |
| Pyropoikilocytosis, hereditary | 11 | Apr 21, 2025 |
| Pyruvate carboxylase deficiency | 4 | Apr 21, 2025 |
| Pyruvate dehydrogenase E1-alpha deficiency | 3 | Apr 21, 2025 |
| Pyruvate dehydrogenase E1-beta deficiency | 2 | Apr 21, 2025 |
| Pyruvate dehydrogenase E3 deficiency | 4 | Apr 21, 2025 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 7 | Apr 21, 2025 |
| Pyruvate dehydrogenase phosphatase deficiency | 2 | Apr 21, 2025 |
| Quebec platelet disorder | 2 | Apr 21, 2025 |
| Question mark ears, isolated | 2 | Apr 21, 2025 |
| RAB14-related disorder | 1 | Apr 21, 2025 |
| RAB23-related Carpenter syndrome | 2 | Apr 21, 2025 |
| RAD51D-related cancer predisposition | 8 | Mar 18, 2025 |
| RAD54L-related disorder | 1 | Mar 18, 2025 |
| RCBTB1-related retinopathy | 2 | Mar 18, 2025 |
| RECON progeroid syndrome | 18 | Apr 21, 2025 |
| RFT1-congenital disorder of glycosylation | 1 | Apr 21, 2025 |
| RHYNS syndrome | 15 | Apr 21, 2025 |
| RIDDLE syndrome | 1 | Apr 21, 2025 |
| RIMS1-related disorder | 3 | Apr 21, 2025 |
| RMP64-related condition | 1 | Mar 18, 2025 |
| RNASEH2A-related type 1 interferonopathy | 1 | Mar 18, 2025 |
| RP1-related recessive retinopathy | 2 | Mar 18, 2025 |
| RPL7A-related condition | 1 | Mar 18, 2025 |
| RPS20-related disorder | 3 | Apr 21, 2025 |
| RPS6KA5-related disorder | 1 | Apr 21, 2025 |
| RRAS-related disorder | 1 | Apr 21, 2025 |
| Rabin-Pappas syndrome | 5 | Apr 21, 2025 |
| Rabson-Mendenhall syndrome | 4 | Apr 21, 2025 |
| Radial aplasia-thrombocytopenia syndrome | 3 | Mar 18, 2025 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | 2 | Apr 21, 2025 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 6 | Apr 21, 2025 |
| Rafiq syndrome | 1 | Apr 21, 2025 |
| Rapadilino syndrome | 14 | Apr 21, 2025 |
| Rapp-Hodgkin syndrome | 3 | Apr 21, 2025 |
| Recessive dystrophic epidermolysis bullosa | 22 | Mar 18, 2025 |
| Recurrent Neisseria infections due to factor D deficiency | 2 | Mar 18, 2025 |
| Regressive spondylometaphyseal dysplasia | 6 | Apr 21, 2025 |
| Reis-Bucklers' corneal dystrophy | 2 | Apr 21, 2025 |
| Renal carnitine transport defect | 13 | Apr 21, 2025 |
| Renal cell carcinoma, Xp11-associated | 1 | Apr 21, 2025 |
| Renal coloboma syndrome | 1 | Apr 21, 2025 |
| Renal cyst | 1 | Mar 18, 2025 |
| Renal cysts and diabetes syndrome | 4 | Apr 21, 2025 |
| Renal dysplasia, cystic, susceptibility to | 3 | Mar 18, 2025 |
| Renal hypodysplasia/aplasia 1 | 1 | Mar 18, 2025 |
| Renal hypodysplasia/aplasia 3 | 1 | Apr 21, 2025 |
| Renal hypomagnesemia 5 with ocular involvement | 2 | Mar 18, 2025 |
| Renal tubular acidosis with progressive nerve deafness | 2 | Mar 18, 2025 |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 2 | Mar 18, 2025 |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 3 | Apr 21, 2025 |
| Renal tubular dysgenesis of genetic origin | 23 | Apr 21, 2025 |
| Renal-hepatic-pancreatic dysplasia 1 | 3 | Apr 21, 2025 |
| Renal-hepatic-pancreatic dysplasia 2 | 2 | Mar 18, 2025 |
| Respiratory papillomatosis, juvenile recurrent, congenital | 2 | Apr 21, 2025 |
| Restrictive dermopathy 1 | 2 | Apr 21, 2025 |
| Restrictive dermopathy 2 | 1 | Apr 21, 2025 |
| Retinal cone dystrophy 3A | 1 | Mar 18, 2025 |
| Retinal cone dystrophy 4 | 2 | Mar 18, 2025 |
| Retinal dystrophy | 2 | Mar 18, 2025 |
| Retinal dystrophy and obesity | 1 | Mar 18, 2025 |
| Retinal dystrophy with or without macular staphyloma | 1 | Mar 18, 2025 |
| Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | 4 | Apr 21, 2025 |
| Retinal macular dystrophy type 2 | 7 | Apr 21, 2025 |
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 3 | Apr 21, 2025 |
| Retinitis pigmentosa | 15 | Apr 21, 2025 |
| Retinitis pigmentosa 1 | 14 | Apr 21, 2025 |
| Retinitis pigmentosa 10 | 3 | Apr 21, 2025 |
| Retinitis pigmentosa 17 | 2 | Mar 18, 2025 |
| Retinitis pigmentosa 19 | 16 | Mar 18, 2025 |
| Retinitis pigmentosa 2 | 2 | Apr 21, 2025 |
| Retinitis pigmentosa 20 | 4 | Apr 21, 2025 |
| Retinitis pigmentosa 23 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 25 | 19 | Apr 21, 2025 |
| Retinitis pigmentosa 26 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 27 | 2 | Mar 18, 2025 |
| Retinitis pigmentosa 28 | 6 | Apr 21, 2025 |
| Retinitis pigmentosa 3 | 2 | Apr 21, 2025 |
| Retinitis pigmentosa 30 | 2 | Apr 21, 2025 |
| Retinitis pigmentosa 31 | 4 | Apr 21, 2025 |
| Retinitis pigmentosa 33 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 35 | 4 | Apr 21, 2025 |
| Retinitis pigmentosa 36 | 2 | Apr 21, 2025 |
| Retinitis pigmentosa 37 | 3 | Apr 21, 2025 |
| Retinitis pigmentosa 38 | 7 | Apr 21, 2025 |
| Retinitis pigmentosa 39 | 25 | Apr 21, 2025 |
| Retinitis pigmentosa 4 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 40 | 4 | Apr 21, 2025 |
| Retinitis pigmentosa 41 | 7 | Apr 21, 2025 |
| Retinitis pigmentosa 43 | 6 | Apr 21, 2025 |
| Retinitis pigmentosa 44 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 45 | 2 | Apr 21, 2025 |
| Retinitis pigmentosa 47 | 2 | Apr 21, 2025 |
| Retinitis pigmentosa 49 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 50 | 4 | Mar 18, 2025 |
| Retinitis pigmentosa 51 | 2 | Apr 21, 2025 |
| Retinitis pigmentosa 54 | 4 | Apr 21, 2025 |
| Retinitis pigmentosa 56 | 6 | Apr 21, 2025 |
| Retinitis pigmentosa 58 | 3 | Apr 21, 2025 |
| Retinitis pigmentosa 62 | 3 | Apr 21, 2025 |
| Retinitis pigmentosa 66 | 8 | Apr 21, 2025 |
| Retinitis pigmentosa 68 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 69 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 7 | 4 | Apr 21, 2025 |
| Retinitis pigmentosa 72 | 3 | Apr 21, 2025 |
| Retinitis pigmentosa 73 | 6 | Apr 21, 2025 |
| Retinitis pigmentosa 78 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 79 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 80 | 2 | Apr 21, 2025 |
| Retinitis pigmentosa 85 | 3 | Mar 18, 2025 |
| Retinitis pigmentosa 87 with choroidal involvement | 5 | Apr 21, 2025 |
| Retinitis pigmentosa 88 | 23 | Apr 21, 2025 |
| Retinitis pigmentosa 9 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 90 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 92 | 3 | Apr 21, 2025 |
| Retinitis pigmentosa 93 | 2 | Apr 21, 2025 |
| Retinitis pigmentosa 95 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa 96 | 2 | Apr 21, 2025 |
| Retinitis pigmentosa 97 | 1 | Apr 21, 2025 |
| Retinitis pigmentosa and erythrocytic microcytosis | 2 | Apr 21, 2025 |
| Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 2 | Apr 21, 2025 |
| Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | 2 | Apr 21, 2025 |
| Retinitis punctata albescens | 2 | Mar 18, 2025 |
| Retinoblastoma | 34 | Apr 21, 2025 |
| Rett syndrome | 2 | Apr 21, 2025 |
| Reynolds syndrome | 4 | Apr 21, 2025 |
| Rh-null, regulator type | 2 | Apr 21, 2025 |
| Rhabdoid tumor predisposition syndrome 1 | 3 | Apr 21, 2025 |
| Rhabdoid tumor predisposition syndrome 2 | 18 | Apr 21, 2025 |
| Rhabdomyolysis, susceptibility to, 1 | 4 | Apr 21, 2025 |
| Rhabdomyosarcoma, embryonal, 2 | 16 | Apr 21, 2025 |
| Rheumatoid arthritis | 1 | Apr 21, 2025 |
| Rhizomelic chondrodysplasia punctata type 1 | 3 | Apr 21, 2025 |
| Rhizomelic chondrodysplasia punctata type 2 | 1 | Apr 21, 2025 |
| Right atrial isomerism | 5 | Mar 18, 2025 |
| Ritscher-Schinzel syndrome 1 | 1 | Apr 21, 2025 |
| Ritscher-Schinzel syndrome 2 | 1 | Mar 18, 2025 |
| Roberts-SC phocomelia syndrome | 3 | Apr 21, 2025 |
| Robinow syndrome, autosomal recessive 2 | 1 | Apr 21, 2025 |
| Robinow-Sorauf syndrome | 1 | Apr 21, 2025 |
| Rod-cone dystrophy | 1 | Nov 9, 2020 |
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | 3 | Apr 21, 2025 |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 4 | Apr 21, 2025 |
| Rothmund-Thomson syndrome type 1 | 1 | Mar 31, 2021 |
| Rothmund-Thomson syndrome type 2 | 14 | Apr 21, 2025 |
| Rotor syndrome | 8 | Apr 21, 2025 |
| Roussy-Lévy syndrome | 2 | Apr 21, 2025 |
| Rubinstein-Taybi syndrome | 7 | Mar 18, 2025 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 6 | Apr 21, 2025 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 6 | Apr 21, 2025 |
| SAA1-related disorder | 1 | Apr 21, 2025 |
| SAMD11-related disorder | 2 | Apr 21, 2025 |
| SATB2 associated disorder | 1 | Mar 18, 2025 |
| SCARB1-related disorder | 1 | Apr 21, 2025 |
| SCOTT SYNDROME | 1 | Mar 18, 2025 |
| SELENOI-related condition | 1 | Mar 18, 2025 |
| SERKAL syndrome | 2 | Apr 21, 2025 |
| SERPINA3-related disorder | 1 | Mar 18, 2025 |
| SERPINA7-related disorder | 2 | Apr 21, 2025 |
| SF3B4-related acrofacial dysostosis | 1 | Mar 18, 2025 |
| SH2B1-related disorder | 1 | Apr 21, 2025 |
| SHORT syndrome | 1 | Apr 21, 2025 |
| SHOX-related short stature | 4 | Apr 21, 2025 |
| SHROOM4-related disorder | 4 | Apr 21, 2025 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 1 | Apr 21, 2025 |
| SLC17A3-related disorder | 1 | Mar 18, 2025 |
| SLC25A18-related disorder | 1 | Apr 21, 2025 |
| SLC30A8-related disorder | 1 | Mar 18, 2025 |
| SLC35A1-congenital disorder of glycosylation | 2 | Apr 21, 2025 |
| SLC35A2-congenital disorder of glycosylation | 2 | Apr 21, 2025 |
| SLC39A8-CDG | 1 | Apr 21, 2025 |
| SLC6A18-related condition | 1 | Mar 18, 2025 |
| SLC7A3-related disorder | 1 | Apr 21, 2025 |
| SMARCB1-related schwannomatosis | 3 | Apr 21, 2025 |
| SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 | 1 | Mar 31, 2021 |
| SOD3-related disorder | 1 | Apr 21, 2025 |
| STAT3-related early-onset multisystem autoimmune disease | 1 | Apr 21, 2025 |
| STING-associated vasculopathy with onset in infancy | 1 | Mar 18, 2025 |
| SUDDEN INFANT DEATH SYNDROME | 6 | Apr 21, 2025 |
| Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | 2 | Apr 21, 2025 |
| Sacral defect with anterior meningocele | 2 | Apr 21, 2025 |
| Saethre-Chotzen syndrome | 3 | Apr 21, 2025 |
| Saldino-Mainzer syndrome | 2 | Apr 21, 2025 |
| Salla disease | 4 | Apr 21, 2025 |
| Sandestig-stefanova syndrome | 2 | Apr 21, 2025 |
| Sandhoff disease | 4 | Apr 21, 2025 |
| Santos syndrome | 2 | Apr 21, 2025 |
| Sarcotubular myopathy | 3 | Apr 21, 2025 |
| Scapuloperoneal spinal muscular atrophy | 1 | Apr 21, 2025 |
| Schaaf-Yang syndrome | 4 | Apr 21, 2025 |
| Schimke immuno-osseous dysplasia | 1 | Apr 21, 2025 |
| Schinzel phocomelia syndrome | 2 | Apr 21, 2025 |
| Schinzel-Giedion syndrome | 9 | Apr 21, 2025 |
| Schizencephaly | 4 | Apr 21, 2025 |
| Schizophrenia | 12 | Apr 21, 2025 |
| Schizophrenia 15 | 2 | Apr 21, 2025 |
| Schizophrenia 19 | 3 | Apr 21, 2025 |
| Schizophrenia 4 | 6 | Apr 21, 2025 |
| Schneckenbecken dysplasia | 1 | Apr 21, 2025 |
| Schuurs-Hoeijmakers syndrome | 3 | Apr 21, 2025 |
| Schwannomatosis | 1 | Mar 18, 2025 |
| Schwartz-Jampel syndrome | 1 | Mar 18, 2025 |
| Schwartz-Jampel syndrome type 1 | 25 | Apr 21, 2025 |
| Schöpf-Schulz-Passarge syndrome | 5 | Apr 21, 2025 |
| Sclerosteosis 2 | 2 | Apr 21, 2025 |
| Seborrhea-like dermatitis with psoriasiform elements | 3 | Apr 21, 2025 |
| Seckel syndrome 1 | 9 | Apr 21, 2025 |
| Seckel syndrome 10 | 1 | Mar 18, 2025 |
| Seckel syndrome 4 | 2 | Apr 21, 2025 |
| Seckel syndrome 5 | 1 | Mar 18, 2025 |
| Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | 1 | Mar 18, 2025 |
| Seizures, benign familial infantile, 3 | 1 | Apr 21, 2025 |
| Seizures, benign familial infantile, 5 | 2 | Apr 21, 2025 |
| Seizures, benign familial neonatal, 1 | 3 | Apr 21, 2025 |
| Seizures, benign familial neonatal, 2 | 1 | Apr 21, 2025 |
| Selective pituitary resistance to thyroid hormone | 1 | Apr 21, 2025 |
| Sengers syndrome | 2 | Apr 21, 2025 |
| Senior-Loken syndrome 1 | 2 | Apr 21, 2025 |
| Senior-Loken syndrome 4 | 11 | Apr 21, 2025 |
| Senior-Loken syndrome 5 | 5 | Apr 21, 2025 |
| Senior-Loken syndrome 6 | 7 | Apr 21, 2025 |
| Senior-Loken syndrome 8 | 9 | Apr 21, 2025 |
| Senior-Loken syndrome 9 | 1 | Apr 21, 2025 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 17 | Apr 21, 2025 |
| Sessile serrated polyposis cancer syndrome | 28 | Apr 21, 2025 |
| Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | 2 | Apr 21, 2025 |
| Severe combined immunodeficiency due to CARD11 deficiency | 1 | Mar 18, 2025 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 1 | Apr 21, 2025 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 5 | Apr 21, 2025 |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 2 | Apr 21, 2025 |
| Severe combined immunodeficiency due to IKK2 deficiency | 4 | Apr 21, 2025 |
| Severe combined immunodeficiency due to LCK deficiency | 1 | Mar 18, 2025 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 4 | Mar 18, 2025 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 10 | Apr 21, 2025 |
| Severe congenital hypochromic anemia with ringed sideroblasts | 2 | Apr 21, 2025 |
| Severe dermatitis-multiple allergies-metabolic wasting syndrome | 4 | Mar 18, 2025 |
| Severe early-childhood-onset retinal dystrophy | 14 | Mar 18, 2025 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 1 | Mar 18, 2025 |
| Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | 1 | Mar 18, 2025 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Mar 18, 2025 |
| Severe myoclonic epilepsy in infancy | 6 | Apr 21, 2025 |
| Severe neonatal-onset encephalopathy with microcephaly | 2 | Apr 21, 2025 |
| Shashi-Pena syndrome | 1 | Apr 21, 2025 |
| Short QT syndrome type 1 | 6 | Apr 21, 2025 |
| Short QT syndrome type 2 | 3 | Apr 21, 2025 |
| Short QT syndrome type 3 | 1 | Apr 21, 2025 |
| Short stature due to growth hormone qualitative anomaly | 1 | Apr 21, 2025 |
| Short stature due to partial GHR deficiency | 5 | Apr 21, 2025 |
| Short stature due to primary acid-labile subunit deficiency | 1 | Apr 21, 2025 |
| Short stature with nonspecific skeletal abnormalities 1 | 4 | Apr 21, 2025 |
| Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | 1 | Apr 21, 2025 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | 3 | Mar 18, 2025 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | 2 | Apr 21, 2025 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 2 | Apr 21, 2025 |
| Short stature-optic atrophy-Pelger-Huët anomaly syndrome | 1 | Mar 18, 2025 |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 1 | Mar 18, 2025 |
| Short-rib thoracic dysplasia 14 with polydactyly | 1 | Mar 18, 2025 |
| Short-rib thoracic dysplasia 18 with polydactyly | 1 | Mar 18, 2025 |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 1 | Mar 18, 2025 |
| Short-rib thoracic dysplasia 21 without polydactyly | 4 | Mar 18, 2025 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 3 | Apr 21, 2025 |
| Short-rib thoracic dysplasia 8 with or without polydactyly | 4 | Mar 18, 2025 |
| Shprintzen-Goldberg syndrome | 1 | Mar 18, 2025 |
| Shwachman syndrome | 1 | Mar 18, 2025 |
| Shwachman-Diamond syndrome 1 | 4 | Apr 21, 2025 |
| Sialic acid storage disease, severe infantile type | 4 | Apr 21, 2025 |
| Sialuria | 3 | Apr 21, 2025 |
| Sick sinus syndrome 1 | 6 | Apr 21, 2025 |
| Sick sinus syndrome 2, autosomal dominant | 2 | Apr 21, 2025 |
| Sick sinus syndrome 3, susceptibility to | 5 | Apr 21, 2025 |
| Silver-Russell syndrome 1 | 4 | Apr 21, 2025 |
| Silver-Russell syndrome 3 | 5 | Apr 21, 2025 |
| Simpson-Golabi-Behmel syndrome type 1 | 1 | Apr 21, 2025 |
| Simpson-Golabi-Behmel syndrome type 2 | 1 | Apr 21, 2025 |
| Singleton-Merten syndrome 1 | 5 | Apr 21, 2025 |
| Singleton-Merten syndrome 2 | 1 | Apr 21, 2025 |
| Sinoatrial node dysfunction and deafness | 7 | Apr 21, 2025 |
| Sitosterolemia | 6 | Mar 18, 2025 |
| Sitosterolemia 2 | 1 | Apr 21, 2025 |
| Sjögren-Larsson syndrome | 3 | Mar 18, 2025 |
| Skeletal dysplasia, mild, with joint laxity and advanced bone age | 1 | Mar 18, 2025 |
| Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | 6 | Apr 21, 2025 |
| Skin creases, congenital symmetric circumferential, 2 | 2 | Apr 21, 2025 |
| Small cell lung carcinoma | 3 | Apr 21, 2025 |
| Smith-Lemli-Opitz syndrome | 11 | Apr 21, 2025 |
| Smith-Magenis syndrome | 9 | Apr 21, 2025 |
| Smith-McCort dysplasia 2 | 1 | Apr 21, 2025 |
| Snijders Blok-Campeau syndrome | 3 | Apr 21, 2025 |
| Snijders blok-fisher syndrome | 1 | Apr 21, 2025 |
| Snowflake vitreoretinal degeneration | 2 | Apr 21, 2025 |
| Solitary median maxillary central incisor syndrome | 1 | Apr 21, 2025 |
| Sotos syndrome | 3 | Apr 21, 2025 |
| Southeast Asian ovalocytosis | 3 | Apr 21, 2025 |
| Spastic ataxia 2 | 3 | Apr 21, 2025 |
| Spastic ataxia 3 | 3 | Apr 21, 2025 |
| Spastic ataxia 4 | 1 | Apr 21, 2025 |
| Spastic paraplegia | 3 | Apr 21, 2025 |
| Spastic paraplegia 72b, autosomal recessive | 1 | Apr 21, 2025 |
| Spastic paraplegia 80, autosomal dominant | 3 | Apr 21, 2025 |
| Spastic paraplegia 83, autosomal recessive | 2 | Apr 21, 2025 |
| Spastic paraplegia 84, autosomal recessive | 1 | Mar 18, 2025 |
| Spastic paraplegia 85, autosomal recessive | 1 | Apr 21, 2025 |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 3 | Apr 21, 2025 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 2 | Apr 21, 2025 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 2 | Mar 18, 2025 |
| Specific granule deficiency 1 | 1 | Mar 18, 2025 |
| Spermatogenic Failure | 1 | Mar 18, 2025 |
| Spermatogenic failure 10 | 2 | Apr 21, 2025 |
| Spermatogenic failure 11 | 1 | Apr 21, 2025 |
| Spermatogenic failure 14 | 3 | Apr 21, 2025 |
| Spermatogenic failure 17 | 1 | Apr 21, 2025 |
| Spermatogenic failure 18 | 2 | Apr 21, 2025 |
| Spermatogenic failure 19 | 2 | Apr 21, 2025 |
| Spermatogenic failure 20 | 2 | Apr 21, 2025 |
| Spermatogenic failure 21 | 1 | Mar 18, 2025 |
| Spermatogenic failure 25 | 9 | Apr 21, 2025 |
| Spermatogenic failure 28 | 5 | Apr 21, 2025 |
| Spermatogenic failure 3 | 3 | Apr 21, 2025 |
| Spermatogenic failure 30 | 2 | Apr 21, 2025 |
| Spermatogenic failure 31 | 1 | Mar 18, 2025 |
| Spermatogenic failure 32 | 2 | Apr 21, 2025 |
| Spermatogenic failure 33 | 5 | Mar 18, 2025 |
| Spermatogenic failure 34 | 9 | Apr 21, 2025 |
| Spermatogenic failure 35 | 3 | Apr 21, 2025 |
| Spermatogenic failure 37 | 2 | Mar 18, 2025 |
| Spermatogenic failure 39 | 11 | Apr 21, 2025 |
| Spermatogenic failure 4 | 4 | Apr 21, 2025 |
| Spermatogenic failure 42 | 1 | Apr 21, 2025 |
| Spermatogenic failure 44 | 1 | Mar 18, 2025 |
| Spermatogenic failure 45 | 3 | Apr 21, 2025 |
| Spermatogenic failure 46 | 7 | Apr 21, 2025 |
| Spermatogenic failure 47 | 2 | Mar 18, 2025 |
| Spermatogenic failure 48 | 2 | Apr 21, 2025 |
| Spermatogenic failure 50 | 1 | Apr 21, 2025 |
| Spermatogenic failure 55 | 1 | Apr 21, 2025 |
| Spermatogenic failure 56 | 4 | Apr 21, 2025 |
| Spermatogenic failure 57 | 1 | Apr 21, 2025 |
| Spermatogenic failure 62 | 1 | Mar 18, 2025 |
| Spermatogenic failure 65 | 7 | Mar 18, 2025 |
| Spermatogenic failure 66 | 2 | Apr 21, 2025 |
| Spermatogenic failure 7 | 6 | Apr 21, 2025 |
| Spermatogenic failure 71 | 1 | Apr 21, 2025 |
| Spermatogenic failure 72 | 6 | Apr 21, 2025 |
| Spermatogenic failure 73 | 1 | Apr 21, 2025 |
| Spermatogenic failure 74 | 1 | Apr 21, 2025 |
| Spermatogenic failure 75 | 1 | Mar 18, 2025 |
| Spermatogenic failure 9 | 1 | Mar 18, 2025 |
| Spinal muscular atrophy, distal, autosomal recessive, 6 | 3 | Apr 21, 2025 |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 1 | Mar 18, 2025 |
| Spinocerebellar ataxia 27A | 1 | Apr 21, 2025 |
| Spinocerebellar ataxia 27B, late-onset | 1 | Apr 21, 2025 |
| Spinocerebellar ataxia 43 | 6 | Apr 21, 2025 |
| Spinocerebellar ataxia 44 | 1 | Mar 18, 2025 |
| Spinocerebellar ataxia 45 | 10 | Apr 21, 2025 |
| Spinocerebellar ataxia 46 | 3 | Apr 21, 2025 |
| Spinocerebellar ataxia 47 | 2 | Apr 21, 2025 |
| Spinocerebellar ataxia 48 | 2 | Apr 21, 2025 |
| Spinocerebellar ataxia 49 | 4 | Apr 21, 2025 |
| Spinocerebellar ataxia type 1 | 7 | Mar 18, 2025 |
| Spinocerebellar ataxia type 10 | 1 | Mar 18, 2025 |
| Spinocerebellar ataxia type 11 | 5 | Apr 21, 2025 |
| Spinocerebellar ataxia type 12 | 3 | Apr 21, 2025 |
| Spinocerebellar ataxia type 13 | 2 | Apr 21, 2025 |
| Spinocerebellar ataxia type 14 | 1 | Mar 18, 2025 |
| Spinocerebellar ataxia type 15/16 | 4 | Apr 21, 2025 |
| Spinocerebellar ataxia type 17 | 5 | Apr 21, 2025 |
| Spinocerebellar ataxia type 19/22 | 2 | Apr 21, 2025 |
| Spinocerebellar ataxia type 2 | 1 | Mar 18, 2025 |
| Spinocerebellar ataxia type 21 | 1 | Apr 21, 2025 |
| Spinocerebellar ataxia type 23 | 1 | Apr 21, 2025 |
| Spinocerebellar ataxia type 25 | 6 | Apr 21, 2025 |
| Spinocerebellar ataxia type 29 | 4 | Apr 21, 2025 |
| Spinocerebellar ataxia type 34 | 1 | Apr 21, 2025 |
| Spinocerebellar ataxia type 35 | 6 | Apr 21, 2025 |
| Spinocerebellar ataxia type 38 | 2 | Apr 21, 2025 |
| Spinocerebellar ataxia type 42 | 6 | Mar 18, 2025 |
| Spinocerebellar ataxia type 5 | 8 | Apr 21, 2025 |
| Spinocerebellar ataxia type 6 | 1 | Mar 18, 2025 |
| Spinocerebellar ataxia, autosomal recessive 24 | 1 | Apr 21, 2025 |
| Spinocerebellar ataxia, autosomal recessive 27 | 1 | Mar 18, 2025 |
| Spinocerebellar ataxia, autosomal recessive 28 | 1 | Mar 18, 2025 |
| Spinocerebellar ataxia, autosomal recessive 30 | 2 | Apr 21, 2025 |
| Spinocerebellar ataxia, autosomal recessive 31 | 1 | Mar 18, 2025 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 2 | Apr 21, 2025 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 12 | Apr 21, 2025 |
| Split hand-foot malformation 1 with sensorineural hearing loss | 1 | Mar 18, 2025 |
| Split hand-foot malformation 4 | 3 | Apr 21, 2025 |
| Sponastrime dysplasia | 3 | Apr 21, 2025 |
| Spondyloarthropathy, susceptibility to, 1 | 1 | Apr 21, 2025 |
| Spondylocarpotarsal synostosis syndrome | 12 | Apr 21, 2025 |
| Spondylocostal dysostosis 1, autosomal recessive | 6 | Mar 18, 2025 |
| Spondylocostal dysostosis 2, autosomal recessive | 1 | Mar 18, 2025 |
| Spondyloenchondrodysplasia with immune dysregulation | 1 | Mar 18, 2025 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | Apr 21, 2025 |
| Spondyloepimetaphyseal dysplasia, Maroteaux type | 1 | Apr 21, 2025 |
| Spondyloepimetaphyseal dysplasia, Missouri type | 4 | Apr 21, 2025 |
| Spondyloepimetaphyseal dysplasia, di rocco type | 1 | Apr 21, 2025 |
| Spondyloepimetaphyseal dysplasia, matrilin-3 type | 8 | Apr 21, 2025 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 1 | Mar 18, 2025 |
| Spondyloepiphyseal dysplasia, kondo-fu type | 1 | Apr 21, 2025 |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | 4 | Apr 21, 2025 |
| Spondylometaphyseal dysplasia | 2 | Mar 18, 2025 |
| Spondylometaphyseal dysplasia - Sutcliffe type | 7 | Apr 21, 2025 |
| Spondylometaphyseal dysplasia, Kozlowski type | 1 | Apr 21, 2025 |
| Spondylometaphyseal dysplasia, pagnamenta type | 1 | Apr 21, 2025 |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 1 | Mar 18, 2025 |
| Spongy degeneration of central nervous system | 1 | Mar 18, 2025 |
| Squalene synthase deficiency | 1 | Mar 18, 2025 |
| Stargardt disease 3 | 1 | Apr 21, 2025 |
| Stargardt disease 4 | 7 | Apr 21, 2025 |
| Steatocystoma multiplex | 3 | Apr 21, 2025 |
| Steel syndrome | 1 | Mar 18, 2025 |
| Steinert myotonic dystrophy syndrome | 1 | Mar 18, 2025 |
| Sterol carrier protein 2 deficiency | 1 | Mar 31, 2021 |
| Stickler syndrome | 13 | Mar 18, 2025 |
| Stickler syndrome type 2 | 5 | Mar 18, 2025 |
| Stickler syndrome, type 4 | 1 | Mar 18, 2025 |
| Stickler syndrome, type 5 | 1 | Mar 18, 2025 |
| Stiff skin syndrome | 15 | Apr 21, 2025 |
| Stormorken syndrome | 3 | Apr 21, 2025 |
| Stromme syndrome | 6 | Apr 21, 2025 |
| Structural congenital heart disease, multiple types - GATA4 | 4 | Mar 18, 2025 |
| Structural heart defects and renal anomalies syndrome | 1 | Mar 18, 2025 |
| Stuve-Wiedemann syndrome 2 | 2 | Apr 21, 2025 |
| Stüve-Wiedemann syndrome 1 | 6 | Apr 21, 2025 |
| Subcutaneous panniculitis-like T-cell lymphoma | 2 | Mar 18, 2025 |
| Succinate-semialdehyde dehydrogenase deficiency | 5 | Mar 18, 2025 |
| Succinyl-CoA acetoacetate transferase deficiency | 1 | Apr 21, 2025 |
| Sucrase-isomaltase deficiency | 3 | Mar 18, 2025 |
| Sudden cardiac failure, infantile | 1 | Mar 18, 2025 |
| Sudden infant death-dysgenesis of the testes syndrome | 3 | Apr 21, 2025 |
| Sulfite oxidase deficiency | 4 | Apr 21, 2025 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 10 | Apr 21, 2025 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 5 | Apr 21, 2025 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 4 | Apr 21, 2025 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 2 | Apr 21, 2025 |
| Surfactant metabolism dysfunction, pulmonary, 4 | 1 | Mar 18, 2025 |
| Susceptibility to mononeuropathy of the median nerve, mild | 10 | Apr 21, 2025 |
| Susceptibility to severe cutaneous adverse reaction | 1 | Apr 21, 2025 |
| Sweeney-Cox syndrome | 1 | Apr 21, 2025 |
| Symphalangism, proximal, 1B | 2 | Apr 21, 2025 |
| Syndactyly type 3 | 3 | Apr 21, 2025 |
| Syndactyly type 4 | 4 | Apr 21, 2025 |
| Syndactyly type 5 | 2 | Apr 21, 2025 |
| Syndromic X-linked intellectual disability Lubs type | 2 | Apr 21, 2025 |
| Syndromic complex neurodevelopmental disorder | 6 | Mar 18, 2025 |
| Syndromic intellectual disability | 20 | Mar 18, 2025 |
| Syndromic multisystem autoimmune disease due to ITCH deficiency | 2 | Apr 21, 2025 |
| Synpolydactyly type 1 | 2 | Apr 21, 2025 |
| Systemic lupus erythematosus | 5 | Apr 21, 2025 |
| Systemic lupus erythematosus 17 | 1 | Apr 21, 2025 |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 7 | Apr 21, 2025 |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 4 | Apr 21, 2025 |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 4 | Apr 21, 2025 |
| TCF12-related craniosynostosis | 1 | Apr 21, 2025 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 1 | Mar 18, 2025 |
| TFRC-related combined immunodeficiency | 1 | Apr 21, 2025 |
| TMEM120B-related disorder | 1 | Apr 21, 2025 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 2 | Apr 21, 2025 |
| TNK2-related disorder | 1 | Apr 21, 2025 |
| TOP1-related disorder | 1 | Apr 21, 2025 |
| TOPORS-related retinopathy | 1 | Mar 18, 2025 |
| TRIP11-related skeletal dysplasia | 1 | Mar 18, 2025 |
| TTN-related myopathy | 15 | Mar 18, 2025 |
| TWIST1-related craniosynostosis | 2 | Apr 21, 2025 |
| Tall stature-scoliosis-macrodactyly of the great toes syndrome | 5 | Apr 21, 2025 |
| Tangier disease | 1 | Apr 21, 2025 |
| Tatton-Brown-Rahman overgrowth syndrome | 5 | Mar 18, 2025 |
| Tay-Sachs disease | 3 | Apr 21, 2025 |
| Teebi hypertelorism syndrome 1 | 5 | Apr 21, 2025 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 4 | Apr 21, 2025 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 2 | Mar 18, 2025 |
| Temple-Baraitser syndrome | 1 | Apr 21, 2025 |
| Terminal osseous dysplasia-pigmentary defects syndrome | 4 | Apr 21, 2025 |
| Testicular anomalies with or without congenital heart disease | 3 | Apr 21, 2025 |
| Testosterone 17-beta-dehydrogenase deficiency | 4 | Mar 18, 2025 |
| Tetraamelia-multiple malformations syndrome | 2 | Mar 18, 2025 |
| Tetralogy of Fallot | 18 | Apr 21, 2025 |
| Thalassemia | 3 | Apr 21, 2025 |
| Thanatophoric dysplasia type 1 | 2 | Apr 21, 2025 |
| Thanatophoric dysplasia, type 2 | 2 | Apr 21, 2025 |
| Thiel-Behnke corneal dystrophy | 2 | Apr 21, 2025 |
| Thrombocythemia 1 | 4 | Apr 21, 2025 |
| Thrombocythemia 2 | 2 | Apr 21, 2025 |
| Thrombocythemia 3 | 5 | Apr 21, 2025 |
| Thrombocytopenia 1 | 1 | Apr 21, 2025 |
| Thrombocytopenia 12 with or without myopathy | 3 | Apr 21, 2025 |
| Thrombocytopenia 5 | 1 | Apr 21, 2025 |
| Thrombocytopenia 9 | 3 | Apr 21, 2025 |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | 1 | Apr 21, 2025 |
| Thrombophilia 3 due to protein C deficiency | 1 | Dec 8, 2022 |
| Thrombophilia caused by F2 prothrombin deficiency | 1 | Dec 8, 2022 |
| Thrombophilia due to activated protein C resistance | 12 | Apr 21, 2025 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 3 | Apr 21, 2025 |
| Thrombophilia due to protein C deficiency, autosomal recessive | 3 | Apr 21, 2025 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Apr 21, 2025 |
| Thrombophilia due to protein S deficiency, autosomal recessive | 1 | Apr 21, 2025 |
| Thrombophilia due to thrombin defect | 17 | Apr 21, 2025 |
| Thyroglobulin synthesis defect | 1 | Mar 18, 2025 |
| Thyroid cancer, nonmedullary, 2 | 6 | Apr 21, 2025 |
| Thyroid cancer, nonmedullary, 4 | 3 | Apr 21, 2025 |
| Thyroid cancer, nonmedullary, 5 | 2 | Mar 18, 2025 |
| Thyroid dyshormonogenesis 6 | 16 | Mar 18, 2025 |
| Thyroid hormone resistance, generalized, autosomal dominant | 1 | Apr 21, 2025 |
| Thyroid hormone resistance, generalized, autosomal recessive | 1 | Apr 21, 2025 |
| Thyrotoxic periodic paralysis, susceptibility to, 1 | 3 | Mar 18, 2025 |
| Thyrotoxic periodic paralysis, susceptibility to, 2 | 1 | Apr 21, 2025 |
| Tibial muscular dystrophy | 134 | Apr 21, 2025 |
| Tietz syndrome | 3 | Apr 21, 2025 |
| Tolchin-Le Caignec syndrome | 1 | Apr 21, 2025 |
| Tooth agenesis, selective, 10 | 2 | Mar 18, 2025 |
| Tooth agenesis, selective, 3 | 2 | Apr 21, 2025 |
| Tooth agenesis, selective, 4 | 6 | Apr 21, 2025 |
| Tooth agenesis, selective, 7 | 7 | Apr 21, 2025 |
| Tooth agenesis, selective, 9 | 2 | Apr 21, 2025 |
| Tourette syndrome | 3 | Apr 21, 2025 |
| Townes syndrome | 2 | Mar 18, 2025 |
| Townes-Brocks syndrome 1 | 3 | Apr 21, 2025 |
| Transient bullous dermolysis of the newborn | 2 | Mar 18, 2025 |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 2 | Apr 21, 2025 |
| Transient myeloproliferative syndrome | 1 | Apr 21, 2025 |
| Transketolase deficiency | 1 | Mar 18, 2025 |
| Treacher Collins syndrome | 3 | Mar 18, 2025 |
| Treacher Collins syndrome 1 | 5 | Apr 21, 2025 |
| Tremor, hereditary essential, 4 | 1 | Apr 21, 2025 |
| Tremor, hereditary essential, 5 | 6 | Apr 21, 2025 |
| Tricho-dento-osseous syndrome | 1 | Mar 18, 2025 |
| Trichohepatoenteric syndrome 2 | 3 | Mar 18, 2025 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 3 | Apr 21, 2025 |
| Trichorhinophalangeal dysplasia type I | 2 | Apr 21, 2025 |
| Trichorhinophalangeal syndrome, type III | 2 | Apr 21, 2025 |
| Trichothiodystrophy | 1 | Mar 18, 2025 |
| Trichothiodystrophy 1, photosensitive | 8 | Apr 21, 2025 |
| Trichothiodystrophy 2, photosensitive | 4 | Apr 21, 2025 |
| Trichothiodystrophy 5, nonphotosensitive | 2 | Apr 21, 2025 |
| Trichothiodystrophy 6, nonphotosensitive | 1 | Mar 18, 2025 |
| Trichotillomania | 3 | Apr 21, 2025 |
| Triglyceride storage disease with ichthyosis | 1 | Mar 18, 2025 |
| Trigonocephaly 1 | 6 | Apr 21, 2025 |
| Trigonocephaly 2 | 6 | Apr 21, 2025 |
| Trimethylaminuria | 7 | Apr 21, 2025 |
| Triosephosphate isomerase deficiency | 1 | Apr 21, 2025 |
| Triphalangeal thumb-polysyndactyly syndrome | 4 | Apr 21, 2025 |
| Triple-negative breast carcinoma | 1 | Mar 31, 2021 |
| Tropical pancreatitis | 3 | Apr 21, 2025 |
| Tuberous sclerosis 1 | 31 | Apr 21, 2025 |
| Tuberous sclerosis 2 | 71 | Apr 21, 2025 |
| Tuberous sclerosis syndrome | 36 | Mar 18, 2025 |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 7 | Apr 21, 2025 |
| Tumor predisposition syndrome 3 | 17 | Apr 21, 2025 |
| Turcot syndrome with polyposis | 2 | Mar 18, 2025 |
| Type 1 diabetes mellitus 2 | 1 | Mar 18, 2025 |
| Type 1 diabetes mellitus 5 | 1 | Apr 21, 2025 |
| Type 2 diabetes mellitus | 48 | Apr 21, 2025 |
| Type A2 brachydactyly | 3 | Apr 21, 2025 |
| Type I complement component 8 deficiency | 1 | Mar 18, 2025 |
| Type II complement component 8 deficiency | 3 | Mar 18, 2025 |
| Tyrosinase-positive oculocutaneous albinism | 22 | Apr 21, 2025 |
| Tyrosinemia type I | 5 | Apr 21, 2025 |
| Tyrosinemia type II | 1 | Mar 18, 2025 |
| Tyrosinemia type III | 1 | Apr 21, 2025 |
| UBR4-related disorder | 1 | Apr 21, 2025 |
| UCP3-related disorder | 1 | Mar 18, 2025 |
| UDPglucose-4-epimerase deficiency | 1 | Mar 18, 2025 |
| UGT1A8-related condition | 1 | Mar 18, 2025 |
| UROD-related inherited porphyria | 1 | Mar 18, 2025 |
| UV-sensitive syndrome 1 | 11 | Apr 21, 2025 |
| UV-sensitive syndrome 2 | 4 | Apr 21, 2025 |
| Ullrich congenital muscular dystrophy 1A | 1 | Apr 21, 2025 |
| Ullrich congenital muscular dystrophy 1B | 2 | Apr 21, 2025 |
| Ullrich congenital muscular dystrophy 1C | 4 | Apr 21, 2025 |
| Ullrich congenital muscular dystrophy 2 | 3 | Apr 21, 2025 |
| Ulnar-mammary syndrome | 2 | Apr 21, 2025 |
| Uncombable hair syndrome 1 | 3 | Mar 18, 2025 |
| Uncombable hair syndrome 3 | 1 | Mar 18, 2025 |
| Upshaw-Schulman syndrome | 6 | Apr 21, 2025 |
| Urinary bladder, atony of | 1 | Mar 18, 2025 |
| Uruguay Faciocardiomusculoskeletal syndrome | 1 | Apr 21, 2025 |
| Usher syndrome type 1 | 38 | Apr 21, 2025 |
| Usher syndrome type 1C | 8 | Apr 21, 2025 |
| Usher syndrome type 1D | 17 | Apr 21, 2025 |
| Usher syndrome type 1F | 9 | Apr 21, 2025 |
| Usher syndrome type 1G | 3 | Apr 21, 2025 |
| Usher syndrome type 2 | 26 | Mar 18, 2025 |
| Usher syndrome type 2A | 25 | Apr 21, 2025 |
| Usher syndrome type 2C | 1 | Apr 21, 2025 |
| Usher syndrome type 3 | 2 | Mar 18, 2025 |
| Usher syndrome, type 1M | 4 | Apr 21, 2025 |
| Usher syndrome, type 4 | 1 | Mar 18, 2025 |
| Uveal coloboma-cleft lip and palate-intellectual disability | 1 | Apr 21, 2025 |
| VACTERL association, X-linked, with or without hydrocephalus | 1 | Apr 21, 2025 |
| VANGL1-related disorder | 1 | Mar 18, 2025 |
| VEXAS syndrome | 2 | Apr 21, 2025 |
| Van Maldergem syndrome 2 | 7 | Apr 21, 2025 |
| Van den Ende-Gupta syndrome | 1 | Mar 18, 2025 |
| Van der Woude syndrome 2 | 4 | Apr 21, 2025 |
| Variegate porphyria | 1 | Apr 21, 2025 |
| Variegate porphyria, childhood-onset | 1 | Apr 21, 2025 |
| Vasculitis due to ADA2 deficiency | 2 | Mar 18, 2025 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 14 | Apr 21, 2025 |
| Ventricular fibrillation, paroxysmal familial, 2 | 1 | Mar 18, 2025 |
| Ventricular fibrillation, paroxysmal familial, type 1 | 6 | Apr 21, 2025 |
| Ventricular septal defect 1 | 3 | Apr 21, 2025 |
| Ventricular septal defect 2 | 3 | Mar 18, 2025 |
| Ventricular septal defect 3 | 1 | Apr 21, 2025 |
| Ventriculomegaly and arthrogryposis | 3 | Apr 21, 2025 |
| Ventriculomegaly-cystic kidney disease | 1 | Apr 21, 2025 |
| Vertebral anomalies and variable endocrine and T-cell dysfunction | 3 | Apr 21, 2025 |
| Vertebral hypersegmentation and orofacial anomalies | 1 | Apr 21, 2025 |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | 2 | Mar 18, 2025 |
| Vertebral, cardiac, renal, and limb defects syndrome 3 | 1 | Mar 18, 2025 |
| Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 1 | Mar 18, 2025 |
| Ververi-Brady syndrome | 2 | Apr 21, 2025 |
| Vesicoureteral reflux 2 | 7 | Apr 21, 2025 |
| Vesicoureteral reflux 8 | 16 | Apr 21, 2025 |
| Vibratory urticaria | 1 | Apr 21, 2025 |
| Vici syndrome | 1 | Apr 21, 2025 |
| Visceral myopathy 1 | 1 | Mar 18, 2025 |
| Visceral myopathy 2 | 4 | Apr 21, 2025 |
| Visceral neuropathy, familial, 1, autosomal recessive | 2 | Apr 21, 2025 |
| Visceral neuropathy, familial, 2, autosomal recessive | 3 | Apr 21, 2025 |
| Vitamin D hydroxylation-deficient rickets, type 1B | 3 | Mar 18, 2025 |
| Vitamin D-dependent rickets type II with alopecia | 5 | Apr 21, 2025 |
| Vitamin D-dependent rickets, type 1A | 3 | Mar 18, 2025 |
| Vitamin D-dependent rickets, type 3 | 2 | Apr 21, 2025 |
| Vitamin K-dependent clotting factors, combined deficiency of, type 1 | 2 | Mar 18, 2025 |
| Vitelliform macular dystrophy 2 | 4 | Mar 18, 2025 |
| Vitelliform macular dystrophy 3 | 4 | Apr 21, 2025 |
| Vitelliform macular dystrophy 4 | 6 | Apr 21, 2025 |
| Vitelliform macular dystrophy 5 | 6 | Apr 21, 2025 |
| Vitiligo-associated multiple autoimmune disease susceptibility 1 | 2 | Apr 21, 2025 |
| Von Hippel-Lindau syndrome | 25 | Apr 21, 2025 |
| WHIM syndrome 1 | 1 | Apr 21, 2025 |
| Waardenburg syndrome type 1 | 1 | Apr 21, 2025 |
| Waardenburg syndrome type 2 | 2 | Mar 18, 2025 |
| Waardenburg syndrome type 2A | 3 | Apr 21, 2025 |
| Waardenburg syndrome type 3 | 1 | Apr 21, 2025 |
| Waardenburg syndrome type 4A | 3 | Apr 21, 2025 |
| Waardenburg syndrome type 4B | 2 | Apr 21, 2025 |
| Wagner disease | 4 | Apr 21, 2025 |
| Warburg micro syndrome 1 | 4 | Apr 21, 2025 |
| Warburg micro syndrome 2 | 4 | Apr 21, 2025 |
| Warburg-cinotti syndrome | 3 | Mar 18, 2025 |
| Warsaw breakage syndrome | 3 | Apr 21, 2025 |
| Weaver syndrome | 1 | Apr 21, 2025 |
| Weill-Marchesani 4 syndrome, recessive | 1 | Mar 18, 2025 |
| Weill-Marchesani syndrome 2, dominant | 15 | Apr 21, 2025 |
| Weill-Marchesani syndrome 3 | 3 | Apr 21, 2025 |
| Weiss-Kruszka syndrome | 5 | Apr 21, 2025 |
| Werner syndrome | 11 | Apr 21, 2025 |
| White sponge nevus 1 | 2 | Apr 21, 2025 |
| White sponge nevus 2 | 1 | Apr 21, 2025 |
| Wiedemann-Steiner syndrome | 6 | Apr 21, 2025 |
| Williams syndrome | 1 | Mar 18, 2025 |
| Wilms tumor 1 | 39 | Apr 21, 2025 |
| Wilms tumor 5 | 5 | Apr 21, 2025 |
| Wilson disease | 1 | Mar 31, 2021 |
| Wiskott-Aldrich syndrome | 1 | Apr 21, 2025 |
| Wolcott-Rallison dysplasia | 5 | Apr 21, 2025 |
| Wolfram syndrome | 2 | Mar 18, 2025 |
| Wolfram syndrome 1 | 18 | Apr 21, 2025 |
| Wolfram-like syndrome | 18 | Apr 21, 2025 |
| Wolman disease | 1 | Apr 21, 2025 |
| Woodhouse-Sakati syndrome | 3 | Mar 18, 2025 |
| Worth disease | 12 | Apr 21, 2025 |
| Wrinkly skin syndrome | 2 | Mar 18, 2025 |
| X-linked acrogigantism due to Xq26 microduplication | 2 | Apr 21, 2025 |
| X-linked cerebral adrenoleukodystrophy | 1 | Mar 31, 2021 |
| X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome | 1 | Apr 21, 2025 |
| X-linked complex neurodevelopmental disorder | 2 | Mar 18, 2025 |
| X-linked complicated corpus callosum dysgenesis | 7 | Apr 21, 2025 |
| X-linked cone-rod dystrophy 1 | 2 | Apr 21, 2025 |
| X-linked cone-rod dystrophy 3 | 1 | Mar 18, 2025 |
| X-linked congenital hemolytic anemia | 1 | Apr 21, 2025 |
| X-linked distal spinal muscular atrophy type 3 | 1 | Mar 18, 2025 |
| X-linked dominant chondrodysplasia, Chassaing-Lacombe type | 3 | Apr 21, 2025 |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 1 | Apr 21, 2025 |
| X-linked erythropoietic protoporphyria | 5 | Mar 18, 2025 |
| X-linked hydrocephalus syndrome | 7 | Apr 21, 2025 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 2 | Apr 21, 2025 |
| X-linked intellectual disability with marfanoid habitus | 2 | Apr 21, 2025 |
| X-linked intellectual disability, Cantagrel type | 2 | Apr 21, 2025 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 2 | Apr 21, 2025 |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 | Apr 21, 2025 |
| X-linked mixed hearing loss with perilymphatic gusher | 3 | Apr 21, 2025 |
| X-linked myopathy with excessive autophagy | 1 | Apr 21, 2025 |
| X-linked myopathy with postural muscle atrophy | 1 | Apr 21, 2025 |
| X-linked recessive nephrolithiasis with renal failure | 1 | Mar 31, 2021 |
| X-linked scapuloperoneal muscular dystrophy | 1 | Apr 21, 2025 |
| X-linked severe combined immunodeficiency | 1 | Apr 21, 2025 |
| X-linked severe congenital neutropenia | 1 | Apr 21, 2025 |
| X-linked spondyloepimetaphyseal dysplasia | 2 | Mar 31, 2021 |
| X-linked syndromic intellectual disability | 1 | Mar 18, 2025 |
| XFE progeroid syndrome | 6 | Apr 21, 2025 |
| Xanthinuria type II | 1 | Mar 18, 2025 |
| Xeroderma pigmentosum group A | 1 | Apr 21, 2025 |
| Xeroderma pigmentosum group B | 7 | Apr 21, 2025 |
| Xeroderma pigmentosum, group C | 5 | Apr 21, 2025 |
| Xeroderma pigmentosum, group D | 10 | Apr 21, 2025 |
| Xeroderma pigmentosum, group E | 1 | Mar 18, 2025 |
| Xeroderma pigmentosum, group F | 6 | Apr 21, 2025 |
| Yao syndrome | 10 | Apr 21, 2025 |
| Yoon-Bellen neurodevelopmental syndrome | 2 | Apr 21, 2025 |
| Young-onset Parkinson disease | 1 | Mar 18, 2025 |
| Yunis-Varon syndrome | 3 | Apr 21, 2025 |
| ZTTK syndrome | 4 | Apr 21, 2025 |
| Zimmermann-Laband syndrome 1 | 1 | Apr 21, 2025 |
| Zimmermann-Laband syndrome 3 | 5 | Apr 21, 2025 |
| Zinc deficiency, transient neonatal | 2 | Apr 21, 2025 |
| alpha Thalassemia | 6 | Apr 21, 2025 |
| not provided | 3863 | Jun 6, 2025 |
| not specified | 385 | Apr 21, 2025 |
| von Willebrand disease type 1 | 34 | Apr 21, 2025 |
| von Willebrand disease type 2 | 23 | Apr 21, 2025 |
| von Willebrand disease type 3 | 34 | Apr 21, 2025 |
