| 3MC syndrome 1 | 5 | Apr 21, 2023 |
| 3MC syndrome 2 | 1 | Apr 21, 2023 |
| Absence seizure | 1 | Dec 12, 2018 |
| Achondroplasia | 1 | Nov 30, 2023 |
| Acne inversa, familial, 1 | 1 | Apr 18, 2023 |
| Acquired hemoglobin H disease | 3 | Apr 18, 2025 |
| Acromesomelic dysplasia 1, Maroteaux type | 1 | Apr 18, 2025 |
| Acromicric dysplasia | 36 | Apr 18, 2025 |
| Action myoclonus-renal failure syndrome | 6 | Apr 21, 2023 |
| Acute febrile neutrophilic dermatosis | 18 | Apr 18, 2025 |
| Acute lymphoid leukemia | 7 | Apr 18, 2025 |
| Acute myeloid leukemia | 14 | Apr 18, 2025 |
| Adams-Oliver syndrome 5 | 13 | Apr 18, 2025 |
| Adenylosuccinate lyase deficiency | 4 | Apr 21, 2023 |
| Adrenoleukodystrophy | 2 | Apr 18, 2025 |
| Adult neuronal ceroid lipofuscinosis | 1 | Dec 12, 2018 |
| Afibrinogenemia | 1 | Dec 12, 2018 |
| Agammaglobulinemia 2, autosomal recessive | 3 | May 2, 2023 |
| Agammaglobulinemia 3, autosomal recessive | 1 | Apr 21, 2023 |
| Agammaglobulinemia 4, autosomal recessive | 1 | Apr 18, 2023 |
| Agammaglobulinemia 6, autosomal recessive | 1 | Apr 21, 2023 |
| Agammaglobulinemia 7, autosomal recessive | 2 | Apr 18, 2025 |
| Agammaglobulinemia 8, autosomal dominant | 7 | Apr 18, 2025 |
| Agammaglobulinemia 8b, autosomal recessive | 4 | Apr 18, 2025 |
| Age related macular degeneration 12 | 1 | Apr 18, 2025 |
| Age related macular degeneration 13 | 3 | Apr 18, 2025 |
| Age related macular degeneration 14 | 5 | Apr 18, 2025 |
| Age related macular degeneration 15 | 5 | Apr 18, 2025 |
| Age related macular degeneration 4 | 3 | Apr 18, 2025 |
| Age related macular degeneration 9 | 4 | Apr 18, 2025 |
| Aicardi-Goutieres syndrome 2 | 2 | Apr 21, 2023 |
| Aicardi-Goutieres syndrome 6 | 2 | Apr 18, 2025 |
| Aicardi-Goutieres syndrome 7 | 26 | Apr 18, 2025 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 4 | Apr 18, 2025 |
| Alpha-1-antitrypsin deficiency | 2 | Apr 18, 2025 |
| Alport syndrome | 1 | Jul 7, 2025 |
| Alstrom syndrome | 7 | Apr 18, 2023 |
| Alternating hemiplegia of childhood 2 | 4 | Apr 18, 2023 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 2 | Apr 18, 2023 |
| Alzheimer disease type 1 | 2 | Apr 18, 2025 |
| Amelocerebrohypohidrotic syndrome | 4 | Apr 21, 2023 |
| Amelogenesis imperfecta type 1A | 1 | Apr 18, 2025 |
| Anauxetic dysplasia 1 | 2 | Apr 18, 2025 |
| Anemia, congenital dyserythropoietic, type 1a | 1 | Mar 29, 2022 |
| Aneurysm-osteoarthritis syndrome | 2 | Apr 21, 2023 |
| Angelman syndrome | 2 | Apr 21, 2023 |
| Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome | 1 | Dec 12, 2018 |
| Aortic aneurysm, familial thoracic 10 | 1 | Apr 21, 2023 |
| Aortic aneurysm, familial thoracic 4 | 22 | Apr 18, 2025 |
| Aortic aneurysm, familial thoracic 6 | 1 | Apr 18, 2025 |
| Aortic aneurysm, familial thoracic 7 | 20 | Apr 18, 2025 |
| Aortic valve disease 1 | 13 | Apr 18, 2025 |
| Aplastic anemia | 10 | Apr 18, 2025 |
| Arginine:glycine amidinotransferase deficiency | 2 | Apr 18, 2025 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 10 | Apr 18, 2025 |
| Arrhythmogenic right ventricular dysplasia 1 | 4 | Apr 18, 2025 |
| Arrhythmogenic right ventricular dysplasia 10 | 3 | Apr 18, 2025 |
| Arrhythmogenic right ventricular dysplasia 11 | 3 | Apr 18, 2025 |
| Arrhythmogenic right ventricular dysplasia 12 | 3 | Apr 18, 2025 |
| Arrhythmogenic right ventricular dysplasia 5 | 1 | Apr 18, 2025 |
| Arrhythmogenic right ventricular dysplasia 8 | 10 | Apr 18, 2025 |
| Arrhythmogenic right ventricular dysplasia 9 | 5 | May 2, 2023 |
| Arterial tortuosity syndrome | 5 | Apr 21, 2023 |
| Arthrogryposis multiplex congenita 3, myogenic type | 1 | Apr 18, 2025 |
| Aspergillosis, susceptibility to | 1 | Apr 18, 2025 |
| Asthma, nasal polyps, and aspirin intolerance | 11 | Apr 18, 2025 |
| Ataxia - oculomotor apraxia type 4 | 3 | Apr 18, 2025 |
| Ataxia-pancytopenia syndrome | 3 | Apr 18, 2025 |
| Ataxia-telangiectasia syndrome | 12 | Apr 18, 2025 |
| Ataxia-telangiectasia-like disorder 1 | 2 | Apr 18, 2023 |
| Atrial fibrillation, familial, 10 | 15 | Apr 18, 2025 |
| Atrial fibrillation, familial, 12 | 1 | Apr 18, 2025 |
| Atrial fibrillation, familial, 13 | 2 | Apr 18, 2025 |
| Atrial fibrillation, familial, 14 | 1 | Apr 18, 2023 |
| Atrial fibrillation, familial, 18 | 1 | Apr 18, 2023 |
| Atrial fibrillation, familial, 3 | 3 | Apr 18, 2025 |
| Atrial fibrillation, familial, 6 | 1 | Apr 18, 2025 |
| Atrial septal defect 2 | 1 | Apr 18, 2025 |
| Atrial septal defect 3 | 3 | Apr 18, 2025 |
| Atrial septal defect 7 | 1 | Apr 18, 2025 |
| Atrial septal defect 9 | 2 | Apr 18, 2025 |
| Atrial standstill 2 | 1 | Apr 18, 2025 |
| Atrioventricular septal defect 4 | 1 | Apr 18, 2025 |
| Atrioventricular septal defect 5 | 2 | Apr 18, 2025 |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 1 | Apr 18, 2025 |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 4 | Apr 18, 2025 |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 3 | Apr 18, 2025 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 | Apr 18, 2023 |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 2 | Apr 18, 2025 |
| Auditory neuropathy, autosomal dominant 3 | 1 | Apr 18, 2025 |
| Autism, susceptibility to, 15 | 8 | Apr 18, 2025 |
| Autism, susceptibility to, X-linked 3 | 13 | Apr 18, 2025 |
| Autoimmune disease, multisystem, infantile-onset, 2 | 2 | Apr 18, 2025 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 3 | Apr 18, 2025 |
| Autoimmune interstitial lung disease-arthritis syndrome | 2 | Mar 29, 2022 |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 2 | Apr 18, 2025 |
| Autoimmune lymphoproliferative syndrome type 1 | 6 | Apr 18, 2025 |
| Autoimmune lymphoproliferative syndrome type 2A | 3 | Apr 18, 2025 |
| Autoimmune lymphoproliferative syndrome type 2B | 2 | Apr 18, 2025 |
| Autoimmune lymphoproliferative syndrome type 4 | 3 | Apr 18, 2025 |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 2 | Apr 21, 2023 |
| Autoinflammation, immune dysregulation, and eosinophilia | 2 | Apr 18, 2023 |
| Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive | 2 | Apr 18, 2025 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 7 | Feb 9, 2026 |
| Autoinflammatory disease, X-linked | 2 | Apr 18, 2025 |
| Autoinflammatory syndrome, familial, Behcet-like | 2 | Mar 29, 2022 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 1 | Apr 18, 2023 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 15 | Apr 18, 2025 |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 6 | Apr 18, 2025 |
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 5 | Apr 18, 2025 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 10 | Apr 18, 2025 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 | Apr 18, 2023 |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 2 | Apr 21, 2023 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 10 | Apr 18, 2025 |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 | Apr 18, 2025 |
| Autosomal dominant nonsyndromic hearing loss 10 | 2 | Apr 18, 2025 |
| Autosomal dominant nonsyndromic hearing loss 3A | 6 | Apr 18, 2025 |
| Autosomal dominant nonsyndromic hearing loss 65 | 3 | Apr 18, 2025 |
| Autosomal dominant osteopetrosis 2 | 2 | Apr 18, 2023 |
| Autosomal recessive ataxia, Beauce type | 1 | Apr 18, 2025 |
| Autosomal recessive congenital ichthyosis 1 | 2 | Apr 18, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 | Apr 18, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 | Apr 18, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 | Apr 18, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 6 | Apr 18, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 2 | Apr 18, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 | Apr 18, 2025 |
| Autosomal recessive nonsyndromic hearing loss 1A | 6 | Apr 18, 2025 |
| Autosomal recessive nonsyndromic hearing loss 4 | 3 | Apr 18, 2025 |
| Autosomal recessive nonsyndromic hearing loss 86 | 3 | Apr 18, 2025 |
| Autosomal recessive osteopetrosis 4 | 2 | Apr 18, 2023 |
| Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | 2 | Apr 21, 2023 |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 7 | Apr 18, 2025 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 3 | Apr 18, 2025 |
| Autosomal recessive spastic paraplegia type 78 | 7 | Apr 18, 2025 |
| Autosomal recessive spinocerebellar ataxia 12 | 1 | Apr 18, 2025 |
| Autosomal recessive spinocerebellar ataxia 7 | 6 | Apr 18, 2025 |
| BENTA disease | 4 | Apr 18, 2025 |
| Baller-Gerold syndrome | 5 | Apr 18, 2025 |
| Baraitser-Winter syndrome | 1 | Nov 30, 2023 |
| Bartter disease type 4A | 1 | Apr 18, 2025 |
| Basal cell carcinoma, susceptibility to, 1 | 2 | Apr 18, 2025 |
| Basal laminar drusen | 3 | Apr 18, 2025 |
| Becker muscular dystrophy | 4 | Apr 18, 2025 |
| Bethlem myopathy 1A | 1 | Apr 18, 2025 |
| Bethlem myopathy 2 | 4 | Apr 18, 2025 |
| Biotin-responsive basal ganglia disease | 1 | Apr 18, 2023 |
| Birbeck granule deficiency | 1 | Apr 21, 2023 |
| Blau syndrome | 17 | Apr 18, 2025 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 | Apr 18, 2025 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 4 | Apr 18, 2025 |
| Blepharophimosis-impaired intellectual development syndrome | 1 | Apr 18, 2025 |
| Blood group, Indian system | 1 | Apr 18, 2023 |
| Bloom syndrome | 4 | Apr 21, 2023 |
| Bohring-Opitz syndrome | 2 | Apr 18, 2025 |
| Bone marrow failure syndrome 3 | 1 | Apr 18, 2023 |
| Bone osteosarcoma | 3 | Apr 18, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 1 | Apr 18, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 2 | Apr 18, 2025 |
| Brittle cornea syndrome 1 | 17 | May 2, 2023 |
| Brugada syndrome 1 | 15 | Apr 18, 2025 |
| Brugada syndrome 2 | 1 | Apr 18, 2023 |
| Brugada syndrome 3 | 7 | Apr 18, 2025 |
| Brugada syndrome 4 | 2 | Apr 18, 2023 |
| Brugada syndrome 5 | 2 | Apr 18, 2025 |
| Brugada syndrome 8 | 2 | Apr 18, 2025 |
| C1 inhibitor deficiency | 3 | Apr 18, 2025 |
| C1Q deficiency | 6 | May 2, 2023 |
| CHARGE syndrome | 9 | Apr 18, 2025 |
| CHEK2-related cancer predisposition | 3 | Apr 18, 2025 |
| Café-au-lait macules with pulmonary stenosis | 14 | Apr 18, 2025 |
| Candidiasis, familial, 8 | 4 | Apr 18, 2025 |
| Candidiasis, familial, 9 | 1 | Mar 29, 2022 |
| Capillary malformation-arteriovenous malformation 1 | 2 | Apr 18, 2025 |
| Capillary malformation-arteriovenous malformation 2 | 2 | Apr 18, 2025 |
| Carcinoma of pancreas | 3 | May 2, 2023 |
| Cardiac arrhythmia, ankyrin-B-related | 11 | Apr 18, 2025 |
| Cardiac valvular dysplasia, X-linked | 10 | Apr 18, 2025 |
| Cardiofaciocutaneous syndrome 1 | 4 | Apr 18, 2025 |
| Cardiofaciocutaneous syndrome 2 | 4 | Apr 18, 2025 |
| Cardiofaciocutaneous syndrome 3 | 2 | Apr 18, 2025 |
| Cardiomyopathy, dilated, 2E | 6 | Apr 18, 2025 |
| Cardiomyopathy, dilated, 2G | 1 | Apr 18, 2023 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 10 | Apr 18, 2025 |
| Cardiomyopathy, familial hypertrophic, 28 | 1 | Apr 18, 2023 |
| Cardiomyopathy, familial restrictive, 1 | 2 | Apr 18, 2025 |
| Cardiomyopathy, familial restrictive, 3 | 1 | Apr 18, 2025 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 11 | Apr 18, 2025 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 1 | May 2, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia 3 | 1 | Apr 18, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 6 | Dec 5, 2024 |
| Celiac disease, susceptibility to, 3 | 2 | Apr 18, 2025 |
| Central core myopathy | 2 | Apr 18, 2025 |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 4 | Apr 18, 2025 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 4 | Apr 18, 2023 |
| Cerebellar atrophy with seizures and variable developmental delay | 3 | Apr 21, 2023 |
| Cerebellar atrophy, developmental delay, and seizures | 4 | Apr 18, 2025 |
| Cerebral arteriovenous malformation | 2 | Apr 18, 2025 |
| Cerebral cavernous malformation | 3 | Apr 18, 2025 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 4 | Apr 21, 2023 |
| Cernunnos-XLF deficiency | 1 | Apr 21, 2023 |
| Ceroid lipofuscinosis, neuronal, 6A | 5 | Apr 18, 2025 |
| Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | 4 | Apr 18, 2025 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 7 | Apr 18, 2025 |
| Charcot-Marie-Tooth disease axonal type 2O | 15 | Apr 18, 2025 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Apr 18, 2025 |
| Charcot-Marie-Tooth disease type 2B1 | 2 | Apr 18, 2025 |
| Charcot-Marie-Tooth disease type 2B2 | 2 | Apr 18, 2025 |
| Charcot-Marie-Tooth disease type 4B2 | 1 | Mar 29, 2022 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 1 | Apr 18, 2025 |
| Childhood onset GLUT1 deficiency syndrome 2 | 5 | Apr 18, 2025 |
| Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 21 | Apr 18, 2025 |
| Chromosome 2p16.3 deletion syndrome | 8 | Apr 18, 2025 |
| Chronic infantile neurological, cutaneous and articular syndrome | 13 | Apr 18, 2025 |
| Chronic myelogenous leukemia, BCR-ABL1 positive | 3 | Apr 18, 2025 |
| Chronic obstructive pulmonary disease | 1 | Apr 18, 2025 |
| Chédiak-Higashi syndrome | 21 | Apr 21, 2023 |
| Classic homocystinuria | 3 | Apr 18, 2025 |
| Cognitive impairment with or without cerebellar ataxia | 6 | Apr 18, 2025 |
| Cohen syndrome | 25 | Dec 4, 2023 |
| Colorectal cancer | 10 | Apr 18, 2025 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 3 | Apr 18, 2025 |
| Colorectal cancer, hereditary nonpolyposis, type 6 | 8 | Apr 18, 2025 |
| Colorectal cancer, susceptibility to, 12 | 6 | Apr 18, 2025 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 2 | Apr 18, 2025 |
| Combined immunodeficiency due to CD3gamma deficiency | 1 | Apr 18, 2023 |
| Combined immunodeficiency due to CTPS1 deficiency | 1 | May 2, 2023 |
| Combined immunodeficiency due to DOCK8 deficiency | 8 | Apr 21, 2023 |
| Combined immunodeficiency due to LRBA deficiency | 11 | May 2, 2023 |
| Combined immunodeficiency due to MALT1 deficiency | 1 | Apr 21, 2023 |
| Combined immunodeficiency due to ORAI1 deficiency | 2 | Apr 18, 2025 |
| Combined immunodeficiency due to OX40 deficiency | 1 | Mar 29, 2022 |
| Combined immunodeficiency due to STIM1 deficiency | 6 | Apr 18, 2025 |
| Combined immunodeficiency due to STK4 deficiency | 1 | Apr 18, 2023 |
| Combined immunodeficiency due to ZAP70 deficiency | 2 | Apr 18, 2025 |
| Combined immunodeficiency due to partial RAG1 deficiency | 5 | Apr 18, 2025 |
| Combined immunodeficiency with faciooculoskeletal anomalies | 1 | Apr 18, 2025 |
| Combined immunodeficiency with skin granulomas | 7 | Apr 18, 2025 |
| Combined immunodeficiency, X-linked | 2 | Apr 18, 2025 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 1 | Apr 18, 2025 |
| Combined oxidative phosphorylation defect type 14 | 1 | Apr 18, 2025 |
| Combined oxidative phosphorylation defect type 17 | 1 | Apr 18, 2025 |
| Combined oxidative phosphorylation defect type 27 | 2 | Apr 18, 2023 |
| Complement component 2 deficiency | 4 | Apr 18, 2025 |
| Complement component 3 deficiency | 4 | Apr 18, 2025 |
| Complement component 5 deficiency | 2 | Apr 18, 2025 |
| Complement component 6 deficiency | 2 | May 2, 2023 |
| Complement component 7 deficiency | 2 | Apr 18, 2023 |
| Complement component 9 deficiency | 5 | Apr 18, 2025 |
| Complement component C1s deficiency | 4 | Apr 18, 2025 |
| Complement factor b deficiency | 1 | Apr 18, 2025 |
| Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome | 1 | Apr 18, 2025 |
| Congenital contractural arachnodactyly | 18 | Apr 18, 2025 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 2 | Apr 18, 2025 |
| Congenital defect of folate absorption | 2 | Apr 18, 2023 |
| Congenital disorder of glycosylation, type IIr | 1 | Apr 18, 2025 |
| Congenital disorder of glycosylation, type IIw | 3 | Apr 18, 2025 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 1 | Apr 21, 2023 |
| Congenital multicore myopathy with external ophthalmoplegia | 2 | Apr 18, 2025 |
| Congenital muscular dystrophy due to LMNA mutation | 2 | Apr 18, 2025 |
| Congenital myopathy 4A, autosomal dominant | 1 | Apr 18, 2025 |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 2 | Apr 21, 2023 |
| Congenital reticular ichthyosiform erythroderma | 1 | Apr 18, 2025 |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 2 | Apr 18, 2025 |
| Conotruncal heart malformations | 6 | Apr 18, 2025 |
| Corneal dystrophy, Fuchs endothelial, 3 | 2 | Apr 18, 2025 |
| Coronary heart disease, susceptibility to, 1 | 1 | Apr 18, 2025 |
| Corpus callosum agenesis-abnormal genitalia syndrome | 1 | Apr 18, 2023 |
| Cortical dysplasia-focal epilepsy syndrome | 8 | Apr 18, 2025 |
| Costello syndrome | 1 | Apr 18, 2025 |
| Creatine transporter deficiency | 2 | Apr 18, 2023 |
| Cromer blood group system | 1 | Apr 18, 2025 |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 4 | Apr 18, 2025 |
| Cutaneous mastocytosis | 1 | Apr 18, 2025 |
| Cutis laxa, autosomal recessive, type 1B | 5 | Apr 21, 2023 |
| Cyclical neutropenia | 2 | Apr 18, 2025 |
| Cystic fibrosis | 3 | Apr 18, 2025 |
| DK1-congenital disorder of glycosylation | 1 | Apr 18, 2023 |
| DNA ligase IV deficiency | 8 | Apr 18, 2025 |
| DOORS syndrome | 3 | Apr 18, 2025 |
| DYRK1A-related intellectual disability syndrome | 1 | Apr 21, 2023 |
| Danon disease | 1 | Apr 18, 2023 |
| Deafness-lymphedema-leukemia syndrome | 2 | Apr 18, 2025 |
| Deficiency of adenosine deaminase 2 | 1 | Apr 18, 2023 |
| Deficiency of guanidinoacetate methyltransferase | 5 | Apr 21, 2023 |
| Dengue virus, susceptibility to | 2 | Apr 18, 2025 |
| Desmoid disease, hereditary | 3 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy | 2 | Jan 14, 2025 |
| Developmental and epileptic encephalopathy 101 | 2 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy 6B | 7 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy 94 | 4 | Apr 21, 2023 |
| Developmental and epileptic encephalopathy 99 | 2 | Apr 18, 2023 |
| Developmental and epileptic encephalopathy, 1 | 1 | Apr 18, 2023 |
| Developmental and epileptic encephalopathy, 11 | 16 | Jan 14, 2026 |
| Developmental and epileptic encephalopathy, 12 | 4 | May 2, 2023 |
| Developmental and epileptic encephalopathy, 13 | 6 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 14 | 10 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 15 | 3 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 16 | 3 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 17 | 1 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 18 | 5 | Apr 18, 2023 |
| Developmental and epileptic encephalopathy, 19 | 1 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 2 | 1 | May 2, 2023 |
| Developmental and epileptic encephalopathy, 23 | 3 | Apr 18, 2023 |
| Developmental and epileptic encephalopathy, 24 | 5 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 25 | 1 | Apr 21, 2023 |
| Developmental and epileptic encephalopathy, 26 | 2 | Apr 21, 2023 |
| Developmental and epileptic encephalopathy, 27 | 3 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 28 | 1 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 3 | 3 | Apr 18, 2023 |
| Developmental and epileptic encephalopathy, 30 | 3 | Apr 18, 2023 |
| Developmental and epileptic encephalopathy, 31A | 1 | Apr 21, 2023 |
| Developmental and epileptic encephalopathy, 33 | 3 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 34 | 1 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 36 | 1 | Apr 21, 2023 |
| Developmental and epileptic encephalopathy, 37 | 1 | Apr 21, 2023 |
| Developmental and epileptic encephalopathy, 39 | 1 | Apr 21, 2023 |
| Developmental and epileptic encephalopathy, 42 | 7 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 43 | 3 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 46 | 2 | May 2, 2023 |
| Developmental and epileptic encephalopathy, 5 | 8 | Apr 21, 2023 |
| Developmental and epileptic encephalopathy, 52 | 2 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 54 | 3 | May 2, 2023 |
| Developmental and epileptic encephalopathy, 62 | 3 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 67 | 2 | Apr 18, 2023 |
| Developmental and epileptic encephalopathy, 7 | 4 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 74 | 2 | Apr 18, 2025 |
| Developmental and epileptic encephalopathy, 77 | 4 | Apr 21, 2023 |
| Developmental and epileptic encephalopathy, 8 | 1 | May 2, 2023 |
| Developmental and epileptic encephalopathy, 9 | 3 | Apr 21, 2023 |
| DiGeorge syndrome | 3 | Apr 18, 2025 |
| Diabetes mellitus type 1 | 1 | Dec 29, 2020 |
| Diamond-Blackfan anemia 11 | 1 | Apr 18, 2023 |
| Diamond-Blackfan anemia 12 | 1 | Apr 21, 2023 |
| Diamond-Blackfan anemia 3 | 1 | Apr 18, 2023 |
| Diamond-Blackfan anemia 6 | 1 | Mar 29, 2022 |
| Diaphyseal dysplasia | 1 | Apr 18, 2025 |
| Dias-Logan syndrome | 3 | Apr 21, 2023 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 | May 29, 2025 |
| Dilated cardiomyopathy 1A | 2 | Apr 18, 2025 |
| Dilated cardiomyopathy 1AA | 3 | Apr 18, 2025 |
| Dilated cardiomyopathy 1BB | 3 | Apr 18, 2025 |
| Dilated cardiomyopathy 1C | 1 | Apr 18, 2025 |
| Dilated cardiomyopathy 1CC | 1 | Apr 18, 2025 |
| Dilated cardiomyopathy 1D | 1 | Apr 18, 2025 |
| Dilated cardiomyopathy 1DD | 6 | Apr 18, 2023 |
| Dilated cardiomyopathy 1E | 15 | Apr 18, 2025 |
| Dilated cardiomyopathy 1EE | 3 | Apr 18, 2025 |
| Dilated cardiomyopathy 1FF | 2 | Apr 18, 2025 |
| Dilated cardiomyopathy 1G | 2 | Apr 18, 2025 |
| Dilated cardiomyopathy 1HH | 2 | Apr 18, 2025 |
| Dilated cardiomyopathy 1J | 2 | Apr 18, 2025 |
| Dilated cardiomyopathy 1JJ | 3 | May 2, 2023 |
| Dilated cardiomyopathy 1KK | 4 | Apr 18, 2025 |
| Dilated cardiomyopathy 1L | 1 | Apr 18, 2025 |
| Dilated cardiomyopathy 1M | 1 | Apr 18, 2025 |
| Dilated cardiomyopathy 1NN | 4 | Apr 18, 2025 |
| Dilated cardiomyopathy 1O | 1 | Apr 18, 2025 |
| Dilated cardiomyopathy 1S | 2 | Apr 18, 2025 |
| Dilated cardiomyopathy 1W | 4 | Apr 18, 2025 |
| Dilated cardiomyopathy 1X | 1 | Apr 18, 2025 |
| Dilated cardiomyopathy 1Y | 2 | Apr 18, 2025 |
| Dilated cardiomyopathy 2A | 2 | Apr 18, 2025 |
| Dilated cardiomyopathy 2B | 1 | Apr 18, 2023 |
| Dilated cardiomyopathy 3B | 4 | Apr 18, 2025 |
| Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 2 | Apr 18, 2025 |
| Distal myopathy with posterior leg and anterior hand involvement | 8 | Apr 18, 2025 |
| Duchenne muscular dystrophy | 4 | Apr 18, 2025 |
| Dyskeratosis congenita, autosomal dominant 2 | 6 | Apr 18, 2025 |
| Dyskeratosis congenita, autosomal dominant 3 | 2 | Apr 18, 2025 |
| Dyskeratosis congenita, autosomal recessive 3 | 5 | Apr 21, 2023 |
| Dyskeratosis congenita, autosomal recessive 5 | 7 | Apr 18, 2025 |
| Dyskeratosis congenita, autosomal recessive 6 | 3 | Apr 18, 2025 |
| Dystonia 12 | 4 | Apr 18, 2023 |
| Dystonia 27 | 1 | Apr 18, 2025 |
| Dystonia 9 | 5 | Apr 18, 2025 |
| EAST syndrome | 3 | Apr 18, 2025 |
| EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | 2 | Dec 12, 2018 |
| Early-onset myopathy with fatal cardiomyopathy | 2 | Apr 18, 2025 |
| Ectodermal dysplasia and immunodeficiency 1 | 4 | Apr 18, 2025 |
| Ectodermal dysplasia and immunodeficiency 2 | 1 | Apr 21, 2023 |
| Ectopia lentis 1, isolated, autosomal dominant | 36 | Apr 18, 2025 |
| Ectopia lentis 2, isolated, autosomal recessive | 15 | Jan 13, 2026 |
| Ectopia lentis et pupillae | 14 | Apr 18, 2025 |
| Eculizumab, poor response to | 1 | Apr 18, 2025 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 19 | May 29, 2025 |
| Ehlers-Danlos syndrome progeroid type | 1 | Dec 12, 2018 |
| Ehlers-Danlos syndrome, arthrochalasia type | 3 | Apr 18, 2025 |
| Ehlers-Danlos syndrome, cardiac valvular type | 1 | Apr 18, 2025 |
| Ehlers-Danlos syndrome, classic type | 21 | May 10, 2024 |
| Ehlers-Danlos syndrome, classic type, 1 | 19 | Apr 18, 2025 |
| Ehlers-Danlos syndrome, classic type, 2 | 11 | May 2, 2023 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 3 | Apr 21, 2023 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 8 | Apr 21, 2023 |
| Ehlers-Danlos syndrome, periodontal type 1 | 3 | Apr 21, 2023 |
| Ehlers-Danlos syndrome, periodontal type 2 | 4 | Apr 18, 2025 |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 1 | Apr 26, 2023 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 1 | 1 | Apr 18, 2023 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 1 | Apr 18, 2025 |
| Ehlers-Danlos syndrome, type 4 | 20 | Apr 18, 2025 |
| Eichsfeld type congenital muscular dystrophy | 1 | Apr 18, 2025 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 | Apr 18, 2025 |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 2 | Apr 18, 2025 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Apr 18, 2025 |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 1 | Apr 18, 2025 |
| Encephalopathy due to GLUT1 deficiency | 5 | Apr 18, 2025 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | 1 | Apr 18, 2023 |
| Endometrial carcinoma | 1 | Apr 18, 2025 |
| Epidermal nevus | 1 | Apr 18, 2025 |
| Epidermodysplasia verruciformis, susceptibility to, 1 | 12 | Apr 21, 2023 |
| Epidermodysplasia verruciformis, susceptibility to, 2 | 7 | Apr 18, 2023 |
| Epidermolytic hyperkeratosis 1 | 1 | Apr 18, 2025 |
| Epilepsy with myoclonic atonic seizures | 1 | Apr 21, 2023 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 | Apr 18, 2023 |
| Epilepsy, childhood absence, susceptibility to, 5 | 3 | Apr 18, 2025 |
| Epilepsy, childhood absence, susceptibility to, 6 | 1 | Apr 18, 2025 |
| Epilepsy, familial adult myoclonic, 5 | 4 | Jan 13, 2026 |
| Epilepsy, familial focal, with variable foci 1 | 2 | Apr 21, 2023 |
| Epilepsy, familial focal, with variable foci 3 | 1 | Apr 21, 2023 |
| Epilepsy, familial focal, with variable foci 4 | 3 | Apr 18, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 2 | Apr 18, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 5 | Apr 18, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 1 | Apr 18, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 | Apr 18, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 16 | 3 | Apr 18, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 18 | 2 | Apr 18, 2025 |
| Epilepsy, juvenile absence, susceptibility to, 1 | 1 | Apr 18, 2025 |
| Epilepsy, progressive myoclonic, 1B | 3 | Apr 21, 2023 |
| Episodic ataxia type 2 | 7 | Apr 18, 2025 |
| Episodic ataxia, type 9 | 10 | Apr 18, 2025 |
| Episodic kinesigenic dyskinesia 1 | 3 | Apr 18, 2025 |
| Euthyroid goiter | 1 | Apr 18, 2025 |
| FG syndrome 1 | 1 | Apr 18, 2025 |
| FG syndrome 2 | 10 | Apr 18, 2025 |
| FOXG1 disorder | 2 | Apr 18, 2023 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 9 | Apr 18, 2025 |
| Facioscapulohumeral muscular dystrophy 4, digenic | 3 | Apr 18, 2025 |
| Factor H deficiency | 3 | Apr 18, 2025 |
| Factor I deficiency | 2 | Apr 18, 2025 |
| Familial Mediterranean fever | 36 | Apr 18, 2025 |
| Familial Mediterranean fever, autosomal dominant | 36 | Apr 18, 2025 |
| Familial adenomatous polyposis 1 | 3 | Apr 18, 2025 |
| Familial amyloid nephropathy with urticaria AND deafness | 13 | Apr 18, 2025 |
| Familial cancer of breast | 22 | Apr 18, 2025 |
| Familial chronic mucocutaneous candidiasis | 2 | Apr 18, 2025 |
| Familial cold autoinflammatory syndrome 1 | 13 | Apr 18, 2025 |
| Familial cold autoinflammatory syndrome 2 | 6 | Apr 21, 2023 |
| Familial cold autoinflammatory syndrome 3 | 7 | Feb 9, 2026 |
| Familial cold autoinflammatory syndrome 4 | 4 | Apr 18, 2025 |
| Familial hemophagocytic lymphohistiocytosis 2 | 2 | Apr 18, 2025 |
| Familial hemophagocytic lymphohistiocytosis 3 | 7 | Apr 21, 2023 |
| Familial hemophagocytic lymphohistiocytosis 5 | 2 | Apr 21, 2023 |
| Familial infantile myoclonic epilepsy | 3 | Apr 18, 2025 |
| Familial isolated congenital asplenia | 1 | Apr 21, 2023 |
| Familial pancreatic carcinoma | 1 | Apr 18, 2025 |
| Familial partial lipodystrophy, Dunnigan type | 2 | Apr 18, 2025 |
| Familial porphyria cutanea tarda | 2 | Apr 18, 2025 |
| Familial prostate cancer | 4 | Apr 18, 2025 |
| Familial temporal lobe epilepsy 5 | 3 | Apr 18, 2025 |
| Familial temporal lobe epilepsy 7 | 6 | Apr 18, 2025 |
| Fanconi anemia complementation group A | 7 | May 2, 2023 |
| Fanconi anemia complementation group B | 1 | Mar 29, 2022 |
| Fanconi anemia complementation group C | 2 | Mar 29, 2022 |
| Fanconi anemia complementation group D1 | 1 | Apr 18, 2025 |
| Fanconi anemia complementation group D2 | 4 | Apr 21, 2023 |
| Fanconi anemia complementation group E | 1 | Apr 18, 2023 |
| Fanconi anemia complementation group F | 2 | Apr 21, 2023 |
| Fanconi anemia complementation group I | 6 | Apr 21, 2023 |
| Fanconi anemia complementation group L | 5 | May 2, 2023 |
| Fanconi anemia complementation group N | 1 | Apr 18, 2025 |
| Fanconi anemia complementation group O | 2 | Apr 18, 2025 |
| Fanconi anemia complementation group P | 7 | May 3, 2023 |
| Fanconi anemia complementation group Q | 3 | Apr 18, 2025 |
| Fanconi renotubular syndrome 1 | 1 | Apr 18, 2025 |
| Febrile seizures, familial, 11 | 3 | Apr 18, 2025 |
| Febrile seizures, familial, 8 | 4 | Apr 18, 2025 |
| Fibromatosis, gingival, 1 | 7 | Apr 18, 2025 |
| Fibromuscular dysplasia, multifocal | 12 | Apr 18, 2025 |
| Fibrous dysplasia of jaw | 5 | Apr 21, 2023 |
| Frontometaphyseal dysplasia 1 | 10 | Apr 18, 2025 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 2 | Apr 18, 2023 |
| GM3 synthase deficiency | 1 | Apr 18, 2023 |
| Gastric adenocarcinoma and proximal polyposis of the stomach | 3 | Apr 18, 2025 |
| Gastric cancer | 9 | Apr 18, 2025 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 7 | Apr 18, 2023 |
| Gastrointestinal stromal tumor | 1 | Apr 18, 2025 |
| Geleophysic dysplasia 2 | 36 | Apr 18, 2025 |
| Generalized epilepsy with febrile seizures plus, type 1 | 2 | Apr 18, 2025 |
| Generalized epilepsy with febrile seizures plus, type 10 | 4 | Apr 18, 2025 |
| Generalized epilepsy with febrile seizures plus, type 2 | 12 | Apr 18, 2025 |
| Generalized epilepsy with febrile seizures plus, type 7 | 3 | Dec 12, 2018 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 4 | Apr 18, 2025 |
| Generalized juvenile polyposis/juvenile polyposis coli | 1 | Dec 12, 2018 |
| Genitopatellar syndrome | 4 | Apr 18, 2025 |
| Germ cell tumor of testis | 1 | Apr 18, 2025 |
| Ghosal hematodiaphyseal dysplasia | 2 | Dec 12, 2018 |
| Glaucoma 3, primary congenital, D | 18 | Apr 18, 2025 |
| Glioma susceptibility 3 | 1 | Apr 18, 2025 |
| Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | 1 | Apr 18, 2025 |
| Glucocorticoid deficiency 5 | 3 | May 2, 2023 |
| Glucose-6-phosphate transport defect | 6 | Apr 18, 2025 |
| Glutaric aciduria, type 1 | 2 | Apr 18, 2023 |
| Glycine encephalopathy | 4 | Nov 20, 2023 |
| Glycine encephalopathy 1 | 1 | Mar 8, 2024 |
| Glycine encephalopathy 2 | 1 | Mar 8, 2024 |
| Glycogen storage disease IXa1 | 1 | Apr 21, 2023 |
| Glycogen storage disease type III | 1 | Apr 18, 2025 |
| Glycogen storage disease, type II | 1 | Apr 18, 2023 |
| Graft-versus-host disease, susceptibility to | 1 | Apr 18, 2025 |
| Granulocytopenia with immunoglobulin abnormality | 1 | Mar 29, 2022 |
| Granulomatous disease, chronic, X-linked | 1 | Apr 18, 2025 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2 | Apr 21, 2023 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 1 | Apr 21, 2023 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 2 | Apr 21, 2023 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 1 | Apr 18, 2023 |
| Griscelli syndrome type 1 | 2 | Apr 18, 2023 |
| Griscelli syndrome type 2 | 2 | Apr 21, 2023 |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 4 | Apr 18, 2025 |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 6 | Apr 18, 2025 |
| H syndrome | 3 | Apr 21, 2023 |
| Haim-Munk syndrome | 1 | Apr 18, 2025 |
| Hashimoto thyroiditis | 2 | Apr 18, 2025 |
| Hearing loss, autosomal dominant 34, with or without inflammation | 6 | Apr 18, 2025 |
| Heart-hand syndrome, Slovenian type | 2 | Apr 18, 2025 |
| Helicobacter pylori infection, susceptibility to | 3 | Apr 18, 2025 |
| Hemochromatosis type 1 | 2 | Apr 18, 2025 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 3 | Apr 18, 2025 |
| Hemophagocytic lymphohistiocytosis, familial, 6 | 1 | Apr 18, 2023 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 2 | Apr 21, 2023 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 5 | Apr 18, 2025 |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | 6 | Apr 18, 2025 |
| Hepatitis B virus, susceptibility to | 6 | Apr 18, 2025 |
| Hepatitis C virus, susceptibility to | 2 | Apr 18, 2025 |
| Hepatocellular carcinoma | 4 | Apr 18, 2025 |
| Hereditary angioedema type 1 | 3 | Apr 18, 2025 |
| Hereditary cryohydrocytosis with reduced stomatin | 5 | Apr 18, 2025 |
| Hereditary neutrophilia | 3 | Apr 18, 2025 |
| Hereditary spastic paraplegia 77 | 1 | Apr 18, 2025 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2 | Apr 18, 2025 |
| Hermansky-Pudlak syndrome 10 | 2 | Mar 29, 2022 |
| Hermansky-Pudlak syndrome 2 | 8 | Apr 21, 2023 |
| Hermansky-Pudlak syndrome 9 | 1 | Apr 18, 2023 |
| Herpes simplex encephalitis, susceptibility to, 1 | 2 | Apr 18, 2023 |
| Herpes simplex encephalitis, susceptibility to, 3 | 1 | Mar 29, 2022 |
| Herpes simplex encephalitis, susceptibility to, 4 | 2 | Apr 21, 2023 |
| Heterotopia, periventricular, X-linked dominant | 10 | Apr 18, 2025 |
| Histiocytic medullary reticulosis | 13 | Apr 18, 2025 |
| Holt-Oram syndrome | 1 | Apr 18, 2023 |
| Hutchinson-Gilford syndrome | 2 | Apr 18, 2025 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 3 | Apr 18, 2025 |
| Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 3 | Apr 21, 2023 |
| Hyper-IgM syndrome type 2 | 1 | Mar 29, 2022 |
| Hyper-IgM syndrome type 3 | 1 | Apr 21, 2023 |
| Hyperaldosteronism, familial, type IV | 1 | Apr 18, 2025 |
| Hypercholesterolemia, familial, 1 | 1 | Apr 21, 2023 |
| Hyperekplexia 1 | 1 | Apr 18, 2023 |
| Hyperimmunoglobulin D with periodic fever | 2 | Apr 18, 2025 |
| Hyperinsulinism due to glucokinase deficiency | 2 | Apr 18, 2025 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 5 | Apr 21, 2023 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 3 | Apr 21, 2023 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy | 1 | Apr 26, 2023 |
| Hypertrophic cardiomyopathy 1 | 3 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 12 | 1 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 14 | 3 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 15 | 4 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 16 | 1 | Apr 18, 2023 |
| Hypertrophic cardiomyopathy 17 | 6 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 2 | 1 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 20 | 1 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 25 | 1 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 26 | 8 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 3 | 2 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 4 | 6 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 6 | 3 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 7 | 2 | Apr 18, 2025 |
| Hypertrophic cardiomyopathy 8 | 2 | Apr 21, 2023 |
| Hypertrophic cardiomyopathy 9 | 2 | Apr 18, 2025 |
| Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 1 | Nov 30, 2023 |
| Hypochondroplasia | 1 | Nov 30, 2023 |
| Hypogonadotropic hypogonadism 16 with or without anosmia | 2 | May 2, 2023 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 9 | Apr 18, 2025 |
| Hypopigmentation, organomegaly, and delayed myelination and development | 1 | Apr 18, 2023 |
| Hypoplastic left heart syndrome 2 | 1 | Apr 18, 2025 |
| Hypothyroidism, congenital, nongoitrous, 5 | 1 | Apr 18, 2025 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 2 | Apr 18, 2025 |
| Ichthyosis hystrix gravior | 1 | Apr 18, 2025 |
| Ichthyosis, annular epidermolytic 1 | 1 | Apr 18, 2025 |
| Ichthyosis, hystrix-like, with hearing loss | 6 | Apr 18, 2025 |
| Idiopathic CD4 lymphocytopenia | 1 | Apr 21, 2023 |
| IgE responsiveness, atopic | 6 | Apr 18, 2025 |
| Immunodeficiency | 2 | Apr 26, 2023 |
| Immunodeficiency 104 | 11 | Apr 18, 2025 |
| Immunodeficiency 105 | 6 | Apr 18, 2023 |
| Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection | 1 | Apr 18, 2025 |
| Immunodeficiency 11b with atopic dermatitis | 4 | Apr 18, 2025 |
| Immunodeficiency 14 | 2 | Apr 18, 2025 |
| Immunodeficiency 14b, autosomal recessive | 1 | Apr 18, 2025 |
| Immunodeficiency 15a | 1 | Apr 18, 2025 |
| Immunodeficiency 18 | 2 | Apr 18, 2025 |
| Immunodeficiency 19 | 1 | Apr 18, 2023 |
| Immunodeficiency 23 | 5 | Apr 21, 2023 |
| Immunodeficiency 25 | 2 | Apr 21, 2023 |
| Immunodeficiency 27A | 5 | Apr 18, 2025 |
| Immunodeficiency 28 | 1 | Apr 21, 2023 |
| Immunodeficiency 31B | 3 | Apr 18, 2025 |
| Immunodeficiency 32B | 1 | Apr 18, 2025 |
| Immunodeficiency 33 | 4 | Apr 18, 2025 |
| Immunodeficiency 35 | 5 | Apr 21, 2023 |
| Immunodeficiency 36 with lymphoproliferation | 2 | Apr 18, 2025 |
| Immunodeficiency 39 | 2 | Mar 29, 2022 |
| Immunodeficiency 45 | 1 | Apr 18, 2025 |
| Immunodeficiency 49 | 2 | Apr 18, 2025 |
| Immunodeficiency 51 | 5 | Apr 21, 2023 |
| Immunodeficiency 60 | 2 | Apr 18, 2023 |
| Immunodeficiency 64 | 2 | Apr 18, 2023 |
| Immunodeficiency 66 | 2 | Mar 29, 2022 |
| Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | 1 | Apr 18, 2025 |
| Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | 1 | Apr 18, 2025 |
| Immunodeficiency 78 with autoimmunity and developmental delay | 3 | Apr 18, 2023 |
| Immunodeficiency 79 | 1 | Apr 18, 2025 |
| Immunodeficiency 83, susceptibility to viral infections | 1 | Apr 18, 2025 |
| Immunodeficiency 88 | 6 | Apr 18, 2025 |
| Immunodeficiency 95 | 13 | Apr 18, 2025 |
| Immunodeficiency due to CD25 deficiency | 1 | Apr 18, 2025 |
| Immunodeficiency due to MASP-2 deficiency | 5 | Apr 21, 2023 |
| Immunodeficiency due to ficolin3 deficiency | 1 | Apr 18, 2023 |
| Immunodeficiency, common variable, 1 | 1 | Apr 18, 2023 |
| Immunodeficiency, common variable, 10 | 3 | Apr 21, 2023 |
| Immunodeficiency, common variable, 12 | 1 | Mar 29, 2022 |
| Immunodeficiency, common variable, 14 | 2 | Apr 18, 2023 |
| Immunodeficiency, common variable, 2 | 7 | Apr 18, 2025 |
| Immunodeficiency, common variable, 3 | 2 | Apr 21, 2023 |
| Immunodeficiency, common variable, 4 | 1 | Apr 18, 2023 |
| Immunodeficiency, common variable, 5 | 1 | Apr 21, 2023 |
| Immunodeficiency, common variable, 6 | 2 | Apr 21, 2023 |
| Immunodeficiency, common variable, 7 | 11 | Apr 18, 2025 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 6 | Apr 18, 2025 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 3 | Apr 21, 2023 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | 2 | Apr 18, 2023 |
| Immunoglobulin A deficiency 2 | 7 | Apr 18, 2025 |
| Immunoskeletal dysplasia with neurodevelopmental abnormalities | 1 | Apr 18, 2023 |
| Incontinentia pigmenti syndrome | 4 | Apr 18, 2025 |
| Infantile convulsions and choreoathetosis | 3 | Apr 18, 2025 |
| Infantile cortical hyperostosis | 2 | Apr 18, 2025 |
| Infantile nephronophthisis | 1 | Apr 18, 2023 |
| Inflammatory bowel disease 1 | 15 | Apr 18, 2025 |
| Inflammatory bowel disease 25 | 3 | Apr 18, 2025 |
| Inflammatory bowel disease 28 | 2 | Apr 18, 2023 |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 1 | Apr 18, 2025 |
| Inflammatory skin and bowel disease, neonatal, 1 | 2 | May 2, 2023 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 4 | Apr 21, 2023 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 2 | Apr 18, 2025 |
| Intellectual developmental disorder, autosomal dominant 70 | 6 | Apr 18, 2025 |
| Intellectual disability and myopathy syndrome | 1 | Apr 18, 2025 |
| Intellectual disability, X-linked 102 | 1 | Apr 18, 2023 |
| Intellectual disability, X-linked 49 | 1 | Apr 21, 2023 |
| Intellectual disability, X-linked 50 | 1 | Apr 18, 2023 |
| Intellectual disability, X-linked, with or without seizures, ARX-related | 1 | Apr 18, 2023 |
| Intellectual disability, autosomal dominant 1 | 5 | Apr 26, 2023 |
| Intellectual disability, autosomal dominant 13 | 15 | Apr 18, 2025 |
| Intellectual disability, autosomal dominant 38 | 3 | Apr 18, 2025 |
| Intellectual disability, autosomal dominant 41 | 1 | Apr 18, 2025 |
| Intellectual disability, autosomal dominant 42 | 1 | Apr 18, 2025 |
| Intellectual disability, autosomal dominant 6 | 3 | Apr 18, 2025 |
| Intellectual disability, autosomal recessive 12 | 3 | Apr 18, 2025 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 1 | Apr 18, 2023 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 4 | Apr 18, 2025 |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 10 | Apr 18, 2025 |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 6 | Apr 18, 2025 |
| Isolated focal cortical dysplasia type II | 36 | Apr 18, 2025 |
| Jervell and Lange-Nielsen syndrome 1 | 3 | Apr 18, 2025 |
| Jervell and Lange-Nielsen syndrome 2 | 1 | Apr 18, 2025 |
| Junctional epidermolysis bullosa gravis of Herlitz | 1 | Apr 18, 2025 |
| Junctional epidermolysis bullosa, non-Herlitz type | 1 | Apr 18, 2025 |
| Juvenile myelomonocytic leukemia | 22 | Apr 18, 2025 |
| Juvenile myoclonic epilepsy | 1 | Dec 12, 2018 |
| Juvenile polyposis syndrome | 1 | May 2, 2023 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2 | May 2, 2023 |
| Kabuki syndrome 1 | 36 | Apr 18, 2025 |
| Kabuki syndrome 2 | 1 | Apr 18, 2023 |
| Keratitis fugax hereditaria | 6 | Apr 18, 2025 |
| Keratosis palmoplantaris striata 2 | 10 | Apr 18, 2025 |
| King Denborough syndrome | 2 | Apr 18, 2025 |
| Kleefstra syndrome 1 | 1 | Apr 21, 2023 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 1 | Apr 18, 2023 |
| Knuckle pads, deafness AND leukonychia syndrome | 6 | Apr 18, 2025 |
| Koolen-de Vries syndrome | 5 | Apr 21, 2023 |
| Kostmann syndrome | 3 | Apr 21, 2023 |
| Kufor-Rakeb syndrome | 7 | Apr 18, 2025 |
| LEOPARD syndrome 1 | 16 | Apr 18, 2025 |
| LEOPARD syndrome 2 | 5 | Apr 18, 2025 |
| LEOPARD syndrome 3 | 4 | Apr 18, 2025 |
| Lafora disease | 3 | Apr 21, 2023 |
| Landau-Kleffner syndrome | 1 | Apr 18, 2023 |
| Large congenital melanocytic nevus | 1 | Apr 18, 2025 |
| Lazy leukocyte syndrome | 1 | Mar 29, 2022 |
| Left ventricular noncompaction 1 | 2 | Apr 18, 2023 |
| Left ventricular noncompaction 10 | 6 | Apr 18, 2025 |
| Left ventricular noncompaction 8 | 4 | Apr 18, 2025 |
| Leprosy, susceptibility to, 3 | 2 | Apr 18, 2025 |
| Lethal acantholytic epidermolysis bullosa | 10 | Apr 18, 2025 |
| Lethal congenital glycogen storage disease of heart | 3 | Apr 18, 2025 |
| Leukocyte adhesion deficiency 1 | 6 | Apr 21, 2023 |
| Leukocyte adhesion deficiency 3 | 5 | Apr 21, 2023 |
| Leukocyte adhesion deficiency type II | 1 | Apr 21, 2023 |
| Leukoencephalopathy with vanishing white matter 1 | 1 | Apr 18, 2025 |
| Liang-Wang syndrome | 3 | Apr 18, 2025 |
| Linear nevus sebaceous syndrome | 4 | Apr 18, 2025 |
| Lipodystrophy, partial, acquired, susceptibility to | 1 | Apr 18, 2025 |
| Lissencephaly due to TUBA1A mutation | 1 | Apr 18, 2023 |
| Loeys-Dietz syndrome 1 | 4 | Apr 18, 2025 |
| Loeys-Dietz syndrome 2 | 9 | Apr 18, 2025 |
| Loeys-Dietz syndrome 4 | 1 | Apr 18, 2023 |
| Long QT syndrome 1 | 3 | Apr 18, 2025 |
| Long QT syndrome 10 | 1 | Apr 18, 2025 |
| Long QT syndrome 11 | 9 | May 2, 2023 |
| Long QT syndrome 12 | 2 | Apr 18, 2023 |
| Long QT syndrome 15 | 1 | Apr 18, 2023 |
| Long QT syndrome 2 | 12 | Apr 18, 2025 |
| Long QT syndrome 3 | 15 | Apr 18, 2025 |
| Long QT syndrome 5 | 1 | Apr 18, 2025 |
| Long QT syndrome 8 | 7 | Apr 18, 2025 |
| Lung cancer | 7 | Apr 18, 2025 |
| Luscan-Lumish syndrome | 8 | Apr 18, 2025 |
| Lymphangiomyomatosis | 36 | Apr 18, 2025 |
| Lymphatic malformation 7 | 3 | Apr 18, 2025 |
| Lymphoma, non-Hodgkin, familial | 4 | Apr 18, 2025 |
| Lymphoproliferative syndrome 1 | 1 | Apr 21, 2023 |
| Lynch syndrome 1 | 1 | Apr 18, 2025 |
| Lynch syndrome 4 | 1 | Apr 18, 2025 |
| Lynch syndrome 5 | 1 | Apr 18, 2025 |
| Lysinuric protein intolerance | 1 | Apr 18, 2023 |
| Lysosomal acid lipase deficiency | 1 | Apr 21, 2023 |
| MASS syndrome | 36 | Apr 18, 2025 |
| MHC class I deficiency | 10 | May 2, 2023 |
| MHC class II deficiency | 7 | May 2, 2023 |
| MHC class II deficiency 1 | 11 | Apr 18, 2025 |
| MIRAGE syndrome | 4 | Apr 18, 2025 |
| MOGS-congenital disorder of glycosylation | 4 | Apr 21, 2023 |
| MYH7-related skeletal myopathy | 2 | Apr 18, 2025 |
| MYPN-related myopathy | 4 | Apr 18, 2025 |
| Macular degeneration, early-onset | 16 | Apr 18, 2025 |
| Macular dystrophy with central cone involvement | 2 | Apr 18, 2025 |
| Majeed syndrome | 7 | Apr 21, 2023 |
| Malaria, susceptibility to | 6 | Jul 15, 2025 |
| Malignant hyperthermia, susceptibility to, 1 | 2 | Apr 18, 2025 |
| Malignant tumor of esophagus | 6 | Apr 18, 2025 |
| Malignant tumor of urinary bladder | 3 | Apr 18, 2025 |
| Mandibuloacral dysplasia with type A lipodystrophy | 2 | Apr 18, 2025 |
| Maple syrup urine disease | 1 | Apr 18, 2023 |
| Marfan syndrome | 59 | Aug 8, 2025 |
| Maturity-onset diabetes of the young type 2 | 2 | Apr 18, 2025 |
| Medulloblastoma | 1 | Apr 18, 2025 |
| Meester-Loeys syndrome | 1 | Apr 18, 2025 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 10 | Apr 18, 2025 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 12 | Apr 18, 2025 |
| Melanoma, cutaneous malignant, susceptibility to, 1 | 3 | Apr 18, 2025 |
| Melanoma, cutaneous malignant, susceptibility to, 9 | 5 | Apr 18, 2025 |
| Melnick-Needles syndrome | 10 | Apr 18, 2025 |
| Melorheostosis | 1 | Apr 18, 2025 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | 2 | Apr 21, 2023 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 3 | Apr 18, 2023 |
| Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | 1 | Apr 21, 2023 |
| Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 1 | Apr 18, 2025 |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 3 | Apr 18, 2025 |
| Metachondromatosis | 13 | Apr 18, 2025 |
| Metaphyseal chondrodysplasia, McKusick type | 2 | Apr 18, 2025 |
| Metaphyseal dysplasia without hypotrichosis | 2 | Apr 18, 2025 |
| Mevalonic aciduria | 2 | Apr 18, 2025 |
| Microcephaly 27, primary, autosomal dominant | 1 | Apr 18, 2025 |
| Microcephaly, epilepsy, and diabetes syndrome 1 | 1 | Apr 18, 2023 |
| Microcephaly, normal intelligence and immunodeficiency | 3 | Apr 18, 2025 |
| Microcephaly, seizures, and developmental delay | 3 | Apr 18, 2025 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 1 | Mar 29, 2022 |
| Microspherophakia | 6 | Mar 29, 2022 |
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 12 | Apr 18, 2025 |
| Microvascular complications of diabetes, susceptibility to, 4 | 2 | Apr 18, 2025 |
| Microvascular complications of diabetes, susceptibility to, 7 | 2 | Apr 18, 2025 |
| Migraine, familial hemiplegic, 1 | 7 | Apr 18, 2025 |
| Migraine, familial hemiplegic, 3 | 12 | Apr 18, 2025 |
| Mismatch repair cancer syndrome 1 | 4 | Apr 18, 2025 |
| Mismatch repair cancer syndrome 3 | 1 | Apr 18, 2025 |
| Mismatch repair cancer syndrome 4 | 1 | Apr 18, 2025 |
| Mitochondrial DNA depletion syndrome 4b | 13 | Apr 18, 2025 |
| Mitochondrial disease | 1 | Jul 15, 2025 |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 1 | Apr 18, 2023 |
| Monocytopenia with susceptibility to infections | 2 | Apr 18, 2025 |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 3 | Apr 18, 2025 |
| Monosomy 7 myelodysplasia and leukemia syndrome 2 | 2 | Apr 18, 2025 |
| Mowat-Wilson syndrome | 2 | Apr 21, 2023 |
| Moyamoya disease 2 | 3 | Apr 21, 2023 |
| Moyamoya disease 5 | 1 | Apr 18, 2025 |
| Mucocutaneous ulceration, chronic | 3 | Apr 18, 2023 |
| Muir-Torré syndrome | 4 | Apr 18, 2025 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2 | Apr 18, 2025 |
| Multiple gastrointestinal atresias | 5 | Dec 29, 2020 |
| Multiple myeloma | 5 | Apr 18, 2025 |
| Multiple sclerosis, susceptibility to, 5 | 1 | Apr 18, 2025 |
| Multiple self-healing squamous epithelioma | 4 | Apr 18, 2025 |
| Multisystemic smooth muscle dysfunction syndrome | 1 | Apr 18, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 | Apr 18, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 6 | Apr 18, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 1 | Apr 18, 2025 |
| Muscular dystrophy-dystroglycanopathy type B5 | 6 | Apr 18, 2025 |
| Mutilating keratoderma | 6 | Apr 18, 2025 |
| Mycobacterium tuberculosis, susceptibility to | 12 | Apr 18, 2025 |
| Myelodysplastic syndrome | 4 | Apr 18, 2025 |
| Myhre syndrome | 2 | May 2, 2023 |
| Myoclonic epilepsy, juvenile, susceptibility to, 1 | 1 | Apr 18, 2025 |
| Myoclonus, familial, 2 | 4 | Apr 18, 2025 |
| Myofibrillar myopathy 4 | 1 | Apr 18, 2025 |
| Myofibrillar myopathy 5 | 8 | Apr 18, 2025 |
| Myofibrillar myopathy 6 | 2 | Apr 18, 2025 |
| Myopathy, congenital, with structured cores and z-line abnormalities | 3 | Apr 18, 2025 |
| Myopathy, distal, 6, adult-onset, autosomal dominant | 3 | Apr 18, 2025 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 2 | Apr 18, 2025 |
| Myopathy, myosin storage, autosomal recessive | 2 | Apr 18, 2025 |
| Myopathy, tubular aggregate, 1 | 6 | Apr 18, 2025 |
| Myopathy, tubular aggregate, 2 | 2 | Apr 18, 2025 |
| Myosin storage myopathy | 2 | Apr 18, 2025 |
| Naxos disease | 3 | Apr 18, 2025 |
| Neonatal-onset encephalopathy with rigidity and seizures | 2 | Apr 18, 2025 |
| Neoplasm of stomach | 1 | Dec 12, 2018 |
| Nephrogenic syndrome of inappropriate antidiuresis | 1 | Sep 18, 2025 |
| Nephrotic syndrome 15 | 2 | Apr 21, 2023 |
| Netherton syndrome | 7 | Aug 27, 2025 |
| Neural tube defects, folate-sensitive | 1 | Apr 18, 2025 |
| Neuroblastoma, susceptibility to, 2 | 4 | Apr 18, 2025 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Apr 21, 2023 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 2 | Apr 18, 2025 |
| Neurodevelopmental disorder with epilepsy and hemochromatosis | 1 | Apr 18, 2025 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 7 | Apr 18, 2025 |
| Neurodevelopmental disorder with involuntary movements | 1 | Apr 18, 2025 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 4 | Apr 18, 2025 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 2 | Apr 18, 2025 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 | Nov 30, 2023 |
| Neurofibromatosis, familial spinal | 14 | Apr 18, 2025 |
| Neurofibromatosis, type 1 | 16 | Apr 18, 2025 |
| Neurofibromatosis-Noonan syndrome | 14 | Apr 18, 2025 |
| Neuromuscular disease and ocular or auditory anomalies with or without seizures | 1 | Mar 24, 2023 |
| Neuronal ceroid lipofuscinosis 10 | 1 | May 3, 2023 |
| Neuronal ceroid lipofuscinosis 13 | 2 | Apr 18, 2023 |
| Neuronal ceroid lipofuscinosis 2 | 6 | Apr 18, 2025 |
| Neuronal ceroid lipofuscinosis 7 | 2 | Apr 18, 2025 |
| Neuronal ceroid lipofuscinosis 8 | 3 | Apr 18, 2025 |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 3 | Apr 18, 2025 |
| Neuropathy, hereditary motor and sensory, type 6A | 1 | Apr 18, 2025 |
| Neutropenia, severe congenital, 1, autosomal dominant | 2 | Apr 18, 2025 |
| Neutropenia, severe congenital, 2, autosomal dominant | 3 | Apr 18, 2025 |
| Neutrophil immunodeficiency syndrome | 1 | Apr 18, 2025 |
| Nicolaides-Baraitser syndrome | 1 | Apr 18, 2025 |
| Nonimmune chronic idiopathic neutropenia of adults | 3 | Apr 18, 2025 |
| Noonan syndrome 1 | 16 | Apr 18, 2025 |
| Noonan syndrome 3 | 4 | Apr 18, 2025 |
| Noonan syndrome 4 | 8 | Apr 18, 2025 |
| Noonan syndrome 5 | 5 | Apr 18, 2025 |
| Noonan syndrome 6 | 1 | Sep 22, 2017 |
| Noonan syndrome 7 | 4 | Apr 18, 2025 |
| Noonan syndrome 8 | 1 | Apr 21, 2023 |
| Noonan syndrome 9 | 2 | Apr 18, 2023 |
| Norman-Roberts syndrome | 6 | Apr 18, 2025 |
| Normophosphatemic familial tumoral calcinosis | 4 | Apr 18, 2025 |
| Okt4 epitope deficiency | 2 | Apr 18, 2025 |
| Optic atrophy 12 | 1 | Apr 18, 2025 |
| Ornithine carbamoyltransferase deficiency | 1 | May 2, 2023 |
| Osteogenesis imperfecta type I | 2 | Apr 18, 2025 |
| Osteogenesis imperfecta type III | 3 | Apr 18, 2025 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 3 | Apr 18, 2025 |
| Osteogenesis imperfecta, perinatal lethal | 3 | Apr 18, 2025 |
| Osteoporosis | 3 | Apr 18, 2025 |
| Oto-palato-digital syndrome, type I | 10 | Apr 18, 2025 |
| Oto-palato-digital syndrome, type II | 10 | Apr 18, 2025 |
| PMM2-congenital disorder of glycosylation | 3 | Apr 18, 2023 |
| Palmoplantar keratoderma-deafness syndrome | 6 | Apr 18, 2025 |
| Pancreatic cancer, susceptibility to, 2 | 1 | Apr 18, 2025 |
| Pancreatic cancer, susceptibility to, 3 | 2 | Apr 18, 2025 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 2 | Apr 18, 2025 |
| Pancytopenia-developmental delay syndrome | 2 | Apr 21, 2023 |
| Papillon-Lefèvre syndrome | 1 | Apr 18, 2025 |
| Paroxysmal extreme pain disorder | 7 | Apr 18, 2025 |
| Paroxysmal nocturnal hemoglobinuria 1 | 1 | Apr 18, 2025 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 2 | May 2, 2023 |
| Partington syndrome | 1 | Apr 18, 2023 |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 4 | Apr 18, 2025 |
| Periodontitis, aggressive | 1 | Apr 18, 2025 |
| Periventricular nodular heterotopia 7 | 2 | May 2, 2023 |
| Permanent neonatal diabetes mellitus 1 | 2 | Apr 18, 2025 |
| Phenylketonuria | 3 | Apr 18, 2025 |
| Phosphate transport defect | 6 | Apr 18, 2025 |
| Piebaldism | 1 | Apr 18, 2025 |
| Pierpont syndrome | 1 | Apr 18, 2025 |
| Pitt-Hopkins syndrome | 2 | Apr 18, 2025 |
| Pitt-Hopkins-like syndrome 2 | 8 | Apr 18, 2025 |
| Pityriasis rubra pilaris | 4 | Apr 18, 2025 |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 2 | Apr 18, 2023 |
| Pleuropulmonary blastoma | 1 | Apr 18, 2025 |
| Poikiloderma with neutropenia | 1 | Apr 21, 2023 |
| Polycystic kidney disease 2 | 1 | Apr 18, 2023 |
| Polyglandular autoimmune syndrome, type 1 | 2 | Apr 18, 2023 |
| Polyglucosan body myopathy type 1 | 2 | Apr 21, 2023 |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | 1 | Apr 18, 2023 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 10 | Apr 18, 2025 |
| Porokeratosis 3, disseminated superficial actinic type | 2 | Apr 18, 2025 |
| Predisposition to invasive fungal disease due to CARD9 deficiency | 6 | May 2, 2023 |
| Premature ovarian failure 15 | 3 | Apr 18, 2025 |
| Primary ciliary dyskinesia 7 | 3 | Apr 21, 2023 |
| Primary erythromelalgia | 7 | Apr 18, 2025 |
| Primary immunodeficiency syndrome due to p14 deficiency | 1 | Apr 21, 2023 |
| Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | 4 | Apr 21, 2023 |
| Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | 2 | Apr 18, 2025 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 36 | Apr 18, 2025 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 13 | Apr 18, 2025 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 13 | Apr 18, 2025 |
| Progressive familial heart block, type 1A | 15 | Apr 18, 2025 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 1 | Apr 18, 2025 |
| Progressive myoclonic epilepsy type 6 | 1 | Mar 29, 2022 |
| Progressive myoclonic epilepsy type 7 | 1 | Apr 18, 2023 |
| Progressive myoclonic epilepsy type 9 | 1 | Apr 18, 2025 |
| Progressive sclerosing poliodystrophy | 13 | Apr 18, 2025 |
| Properdin deficiency, X-linked | 1 | Apr 18, 2023 |
| Propionic acidemia | 1 | Apr 18, 2023 |
| Prostate cancer, hereditary, 2 | 1 | Apr 18, 2025 |
| Proteasome-associated autoinflammatory syndrome 1 | 2 | Apr 18, 2023 |
| Proximal myopathy with extrapyramidal signs | 1 | Apr 21, 2023 |
| Pseudo-TORCH syndrome 3 | 1 | Apr 18, 2025 |
| Psoriasis 13, susceptibility to | 3 | Apr 18, 2025 |
| Psoriasis 2 | 4 | Apr 18, 2025 |
| Psoriatic arthritis, susceptibility to | 7 | Apr 18, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 6 | Apr 18, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 8 | Dec 9, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 3 | Apr 18, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | 1 | Apr 21, 2023 |
| Purine-nucleoside phosphorylase deficiency | 1 | Apr 21, 2023 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 3 | Apr 21, 2023 |
| Pyridoxal phosphate-responsive seizures | 2 | Apr 21, 2023 |
| Pyridoxine-dependent epilepsy | 2 | Apr 21, 2023 |
| RIDDLE syndrome | 2 | Apr 21, 2023 |
| Rabin-Pappas syndrome | 6 | Apr 18, 2025 |
| Radial aplasia-thrombocytopenia syndrome | 2 | Apr 21, 2023 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | 1 | Mar 29, 2022 |
| Rapadilino syndrome | 5 | Apr 18, 2025 |
| Recurrent Neisseria infections due to factor D deficiency | 1 | Apr 21, 2023 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 1 | Apr 18, 2023 |
| Restrictive dermopathy 2 | 2 | Apr 18, 2025 |
| Retinitis pigmentosa 39 | 2 | Apr 18, 2025 |
| Retinitis pigmentosa and erythrocytic microcytosis | 2 | Apr 18, 2025 |
| Rett syndrome | 13 | Apr 18, 2025 |
| Revesz syndrome | 2 | Apr 18, 2025 |
| Rhabdoid tumor predisposition syndrome 2 | 1 | Jun 5, 2024 |
| Rhabdomyolysis, susceptibility to, 1 | 1 | May 2, 2023 |
| Rhabdomyosarcoma, embryonal, 2 | 1 | Apr 18, 2025 |
| Rheumatoid arthritis | 10 | Apr 18, 2025 |
| Rienhoff syndrome | 5 | Apr 18, 2025 |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 1 | Apr 18, 2025 |
| Rothmund-Thomson syndrome type 2 | 5 | Apr 18, 2025 |
| SHORT syndrome | 2 | Apr 18, 2025 |
| STAT3-related early-onset multisystem autoimmune disease | 3 | Apr 18, 2025 |
| STING-associated vasculopathy with onset in infancy | 1 | Dec 22, 2023 |
| SUDDEN INFANT DEATH SYNDROME | 15 | Apr 18, 2025 |
| Schimke immuno-osseous dysplasia | 5 | May 2, 2023 |
| Schuurs-Hoeijmakers syndrome | 2 | Apr 18, 2023 |
| Seizures, benign familial infantile, 2 | 3 | Apr 18, 2025 |
| Seizures, benign familial infantile, 3 | 15 | Apr 18, 2025 |
| Seizures, benign familial infantile, 5 | 6 | Apr 18, 2025 |
| Seizures, benign familial neonatal, 1 | 4 | Apr 18, 2025 |
| Seizures, benign familial neonatal, 2 | 1 | Apr 21, 2023 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 13 | Apr 18, 2025 |
| Severe combined immunodeficiency due to CARD11 deficiency | 4 | Apr 18, 2025 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 3 | Apr 18, 2023 |
| Severe combined immunodeficiency due to CORO1A deficiency | 2 | Apr 21, 2023 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 6 | Apr 18, 2025 |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 9 | Apr 21, 2023 |
| Severe combined immunodeficiency due to IKK2 deficiency | 1 | Apr 18, 2025 |
| Severe combined immunodeficiency due to LCK deficiency | 2 | Apr 21, 2023 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2 | Apr 21, 2023 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 7 | Apr 18, 2025 |
| Severe myoclonic epilepsy in infancy | 15 | Apr 18, 2025 |
| Severe neonatal-onset encephalopathy with microcephaly | 13 | Apr 18, 2025 |
| Short QT syndrome type 1 | 12 | Apr 18, 2025 |
| Short QT syndrome type 2 | 3 | Apr 18, 2025 |
| Short stature with nonspecific skeletal abnormalities 1 | 1 | Apr 18, 2025 |
| Shprintzen-Goldberg syndrome | 5 | Jan 2, 2026 |
| Shwachman-Diamond syndrome 1 | 5 | Apr 18, 2025 |
| Sick sinus syndrome 1 | 15 | Apr 18, 2025 |
| Sick sinus syndrome 2, autosomal dominant | 2 | Apr 18, 2025 |
| Sick sinus syndrome 3, susceptibility to | 3 | Apr 18, 2025 |
| Singleton-Merten syndrome 1 | 26 | Apr 18, 2025 |
| Sneddon syndrome | 1 | Apr 18, 2023 |
| Spastic ataxia 5 | 1 | Apr 18, 2025 |
| Spermatogenic failure 28 | 3 | Apr 18, 2025 |
| Spinocerebellar ataxia 49 | 3 | Apr 18, 2025 |
| Spinocerebellar ataxia type 28 | 1 | Apr 18, 2025 |
| Spinocerebellar ataxia type 6 | 7 | Apr 18, 2025 |
| Spondyloenchondrodysplasia with immune dysregulation | 1 | Jul 15, 2025 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 1 | Apr 18, 2025 |
| Sterile multifocal osteomyelitis with periostitis and pustulosis | 3 | Apr 18, 2025 |
| Stiff skin syndrome | 36 | Apr 18, 2025 |
| Stormorken syndrome | 6 | Apr 18, 2025 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Apr 21, 2023 |
| Surfactant metabolism dysfunction, pulmonary, 5 | 3 | Apr 18, 2023 |
| Susceptibility to HIV infection | 14 | Apr 18, 2025 |
| Susceptibility to respiratory infections associated with CD8alpha chain mutation | 3 | May 2, 2023 |
| Symmetrical dyschromatosis of extremities | 2 | Apr 18, 2025 |
| Syndromic X-linked intellectual disability Hedera type | 2 | Apr 18, 2025 |
| Syndromic X-linked intellectual disability Lubs type | 13 | Apr 18, 2025 |
| Syndromic multisystem autoimmune disease due to ITCH deficiency | 3 | May 2, 2023 |
| Systemic lupus erythematosus | 4 | Apr 18, 2025 |
| Systemic lupus erythematosus, susceptibility to, 9 | 10 | Apr 18, 2025 |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 3 | May 2, 2023 |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 6 | Apr 18, 2025 |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 4 | Apr 18, 2025 |
| TFRC-related combined immunodeficiency | 1 | Mar 29, 2022 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 2 | Apr 18, 2025 |
| TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 | 2 | Apr 18, 2025 |
| Tall stature-scoliosis-macrodactyly of the great toes syndrome | 1 | Apr 18, 2025 |
| Tay-Sachs disease | 1 | Apr 21, 2023 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Apr 21, 2023 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Apr 21, 2023 |
| Temple-Baraitser syndrome | 1 | Apr 18, 2025 |
| Temtamy syndrome | 1 | Apr 18, 2023 |
| Terminal osseous dysplasia-pigmentary defects syndrome | 10 | Apr 18, 2025 |
| Testicular anomalies with or without congenital heart disease | 1 | Apr 18, 2025 |
| Tetralogy of Fallot | 7 | Apr 18, 2025 |
| Thrombocytopenia 1 | 2 | Apr 18, 2025 |
| Thrombocytopenia 2 | 2 | Apr 18, 2023 |
| Thrombomodulin-related bleeding disorder | 2 | Apr 18, 2025 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 1 | Apr 18, 2025 |
| Thrombophilia due to protein C deficiency, autosomal recessive | 1 | Apr 18, 2025 |
| Thromboxane synthetase deficiency | 2 | Dec 12, 2018 |
| Thyroid cancer, nonmedullary, 2 | 1 | Apr 18, 2025 |
| Tibial muscular dystrophy | 2 | Apr 18, 2025 |
| Timothy syndrome | 7 | Apr 18, 2025 |
| Tobacco addiction, susceptibility to | 5 | Apr 18, 2025 |
| Toriello-Lacassie-Droste syndrome | 2 | Apr 18, 2025 |
| Transcobalamin II deficiency | 5 | May 2, 2023 |
| Trichohepatoenteric syndrome 1 | 3 | Mar 29, 2022 |
| Tuberous sclerosis 1 | 5 | Apr 18, 2025 |
| Tuberous sclerosis 2 | 32 | Apr 18, 2025 |
| Type 1 diabetes mellitus 10 | 1 | Apr 18, 2025 |
| Type 1 diabetes mellitus 12 | 2 | Apr 18, 2025 |
| Type 1 diabetes mellitus 22 | 2 | Apr 18, 2025 |
| Type 2 diabetes mellitus | 2 | Apr 18, 2025 |
| Type I complement component 8 deficiency | 1 | Apr 21, 2023 |
| Type II complement component 8 deficiency | 4 | Apr 21, 2023 |
| Ullrich congenital muscular dystrophy 1A | 1 | Apr 18, 2025 |
| Ullrich congenital muscular dystrophy 2 | 4 | Apr 18, 2025 |
| Usher syndrome type 2A | 2 | Apr 18, 2025 |
| Van Maldergem syndrome 2 | 5 | Apr 18, 2025 |
| Variegate porphyria | 2 | Apr 18, 2025 |
| Velocardiofacial syndrome | 3 | Apr 18, 2025 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 11 | Apr 18, 2025 |
| Ventricular fibrillation, paroxysmal familial, type 1 | 15 | Apr 18, 2025 |
| Ventricular septal defect 1 | 1 | Apr 18, 2025 |
| Ventricular septal defect 3 | 1 | Apr 18, 2025 |
| Very long chain acyl-CoA dehydrogenase deficiency | 2 | May 2, 2023 |
| Vesicoureteral reflux 8 | 18 | Apr 18, 2025 |
| Vici syndrome | 11 | Apr 21, 2023 |
| Visceral myopathy 2 | 12 | Apr 18, 2025 |
| WHIM syndrome 1 | 2 | Apr 18, 2025 |
| Warts, hypogammaglobulinemia, infections, and myelokathexis | 1 | Dec 12, 2018 |
| Weill-Marchesani 4 syndrome, recessive | 11 | May 2, 2023 |
| Weill-Marchesani syndrome 1 | 7 | Apr 21, 2023 |
| Weill-Marchesani syndrome 2, dominant | 36 | Apr 18, 2025 |
| Weill-Marchesani syndrome 3 | 24 | Apr 18, 2025 |
| West Nile virus, susceptibility to | 2 | Apr 18, 2025 |
| Wilms tumor 1 | 1 | Apr 18, 2025 |
| Wilson disease | 2 | May 2, 2023 |
| Wiskott-Aldrich syndrome | 2 | Apr 18, 2025 |
| Wiskott-Aldrich syndrome 2 | 4 | Apr 18, 2023 |
| Wolff-Parkinson-White pattern | 3 | Apr 18, 2025 |
| X-linked Emery-Dreifuss muscular dystrophy | 1 | Apr 18, 2023 |
| X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | 1 | Apr 18, 2025 |
| X-linked agammaglobulinemia | 3 | Apr 18, 2025 |
| X-linked agammaglobulinemia with growth hormone deficiency | 3 | Apr 18, 2025 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 2 | Mar 29, 2022 |
| X-linked intellectual disability with marfanoid habitus | 1 | Apr 18, 2025 |
| X-linked intellectual disability, Cantagrel type | 4 | May 2, 2023 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 13 | Apr 18, 2025 |
| X-linked lissencephaly with abnormal genitalia | 1 | Apr 18, 2023 |
| X-linked parkinsonism-spasticity syndrome | 2 | Apr 18, 2025 |
| X-linked severe combined immunodeficiency | 2 | Apr 18, 2025 |
| X-linked severe congenital neutropenia | 2 | Apr 18, 2025 |
| X-linked spondyloepimetaphyseal dysplasia | 1 | Apr 18, 2025 |
| XFE progeroid syndrome | 3 | Apr 18, 2025 |
| Xeroderma pigmentosum, group F | 3 | Apr 18, 2025 |
| Yao syndrome | 15 | Apr 18, 2025 |
| Zimmermann-Laband syndrome 1 | 1 | Apr 18, 2025 |
| not provided | 106 | May 3, 2023 |
