| 3-Methylglutaconic aciduria type 2 | 2 | Jan 28, 2024 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 1 | Mar 6, 2023 |
| Acrocephalosyndactyly type I | 1 | Apr 1, 2019 |
| Acute intermittent porphyria | 1 | Nov 14, 2019 |
| Acute myeloid leukemia | 7 | Sep 26, 2025 |
| Adams-Oliver syndrome 1 | 3 | Sep 26, 2025 |
| Adams-Oliver syndrome 3 | 1 | Sep 26, 2025 |
| Adams-Oliver syndrome 5 | 3 | Sep 26, 2025 |
| Adams-Oliver syndrome 6 | 2 | Sep 26, 2025 |
| Adrenoleukodystrophy | 37 | Sep 25, 2025 |
| Adult hypophosphatasia | 2 | Sep 25, 2025 |
| Aicardi-Goutieres syndrome 1 | 1 | Jul 31, 2019 |
| Aicardi-Goutieres syndrome 6 | 1 | Aug 4, 2020 |
| Alagille syndrome due to a NOTCH2 point mutation | 3 | Sep 25, 2025 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | May 4, 2021 |
| Allan-Herndon-Dudley syndrome | 1 | Sep 8, 2022 |
| Alstrom syndrome | 3 | Apr 2, 2021 |
| Alternating hemiplegia of childhood 2 | 1 | Jun 3, 2021 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 11 | Sep 26, 2025 |
| Alzheimer disease 3 | 1 | May 28, 2020 |
| Amyloidosis, hereditary systemic 1 | 2 | Sep 25, 2025 |
| Amyloidosis, primary localized cutaneous, 3 | 1 | Nov 3, 2020 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 6 | Sep 26, 2025 |
| Anterior segment dysgenesis 7 | 1 | Aug 4, 2020 |
| Aortic valve disease 1 | 4 | Sep 25, 2025 |
| Aortic valve disease 3 | 1 | Sep 25, 2025 |
| Aplasia cutis congenita | 1 | Sep 13, 2021 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | Sep 26, 2025 |
| Arrhythmogenic right ventricular dysplasia 11 | 1 | Jan 28, 2024 |
| Arrhythmogenic right ventricular dysplasia 2 | 1 | Aug 4, 2020 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | Oct 13, 2020 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Jul 31, 2019 |
| Arthrogryposis, distal, type 2B3 | 1 | May 28, 2020 |
| Asphyxiating thoracic dystrophy 3 | 6 | Sep 26, 2025 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 | Sep 25, 2025 |
| Ataxia-pancytopenia syndrome | 5 | Sep 8, 2022 |
| Ataxia-telangiectasia syndrome | 4 | Sep 26, 2025 |
| Atrial septal defect 3 | 1 | Mar 6, 2023 |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 1 | Apr 2, 2021 |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 3 | Jul 25, 2023 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 4 | Mar 6, 2023 |
| Au-Kline syndrome | 1 | Sep 8, 2022 |
| Autism spectrum disorder due to AUTS2 deficiency | 2 | Feb 3, 2021 |
| Autism, susceptibility to, 17 | 1 | Mar 6, 2023 |
| Autism, susceptibility to, X-linked 2 | 1 | Sep 8, 2022 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 | Jan 28, 2024 |
| Autoimmune interstitial lung disease-arthritis syndrome | 4 | Sep 26, 2025 |
| Autoinflammatory syndrome with immunodeficiency | 1 | Sep 25, 2025 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 1 | Sep 25, 2025 |
| Autosomal dominant Alport syndrome | 7 | Sep 26, 2025 |
| Autosomal dominant Robinow syndrome 1 | 1 | Aug 4, 2020 |
| Autosomal dominant Robinow syndrome 2 | 1 | Sep 26, 2025 |
| Autosomal dominant centronuclear myopathy | 1 | Mar 5, 2019 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Oct 13, 2020 |
| Autosomal dominant hypocalcemia 1 | 1 | May 4, 2021 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Apr 2, 2021 |
| Autosomal dominant pseudohypoaldosteronism type 1 | 3 | Sep 25, 2025 |
| Autosomal recessive Alport syndrome | 2 | Sep 25, 2025 |
| Autosomal recessive ataxia, Beauce type | 2 | Nov 3, 2020 |
| Autosomal recessive congenital ichthyosis 1 | 1 | Sep 26, 2025 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 3 | Sep 26, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Aug 4, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 3 | May 28, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2 | Sep 8, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 | Jun 3, 2021 |
| Autosomal recessive nonsyndromic hearing loss 1A | 3 | May 15, 2023 |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 | May 28, 2020 |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 | Jul 25, 2023 |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 | May 15, 2023 |
| Autosomal recessive osteopetrosis 1 | 2 | Sep 25, 2025 |
| Autosomal recessive polycystic kidney disease | 1 | May 28, 2020 |
| Autosomal recessive spastic paraplegia type 78 | 1 | Sep 26, 2025 |
| Autosomal recessive spinocerebellar ataxia 16 | 2 | May 15, 2023 |
| Baraitser-Winter syndrome 1 | 1 | Sep 26, 2025 |
| Bardet-Biedl syndrome 15 | 2 | Oct 13, 2020 |
| Bardet-Biedl syndrome 5 | 1 | May 28, 2020 |
| Bartter disease type 2 | 2 | Oct 13, 2020 |
| Bartter disease type 4B | 1 | Sep 26, 2025 |
| Benign familial hematuria | 1 | Jan 28, 2024 |
| Benign hereditary chorea | 2 | Sep 26, 2025 |
| Bernard-Soulier syndrome, type A2, autosomal dominant | 1 | Sep 8, 2022 |
| Beta-thalassemia HBB/LCRB | 1 | Sep 25, 2025 |
| Bethlem myopathy 2 | 1 | Sep 26, 2025 |
| Biotinidase deficiency | 2 | Jul 30, 2021 |
| Birt-Hogg-Dube syndrome | 1 | Nov 14, 2019 |
| Birt-Hogg-Dube syndrome 1 | 1 | Sep 26, 2025 |
| Blau syndrome | 1 | Sep 8, 2022 |
| Bleeding disorder, platelet-type, 21 | 1 | Dec 1, 2020 |
| Brain malformations with or without urinary tract defects | 1 | Jan 28, 2024 |
| Brain small vessel disease 2A, autosomal dominant | 2 | Sep 26, 2025 |
| Brain-lung-thyroid syndrome | 8 | Mar 6, 2023 |
| Branchiootic syndrome 1 | 2 | Mar 6, 2023 |
| Branchiootorenal syndrome 1 | 1 | Sep 25, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 6 | Sep 26, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 6 | Sep 26, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 1 | Sep 26, 2025 |
| Bronchiectasis with or without elevated sweat chloride 1 | 4 | Jul 25, 2023 |
| Bronchiectasis with or without elevated sweat chloride 2 | 5 | Sep 26, 2025 |
| Bronchiectasis with or without elevated sweat chloride 3 | 6 | Sep 26, 2025 |
| Bruck syndrome 2 | 2 | Oct 13, 2020 |
| Brugada syndrome 1 | 1 | May 28, 2020 |
| C1 inhibitor deficiency | 1 | Sep 25, 2025 |
| C3 glomerulonephritis | 1 | Sep 25, 2025 |
| CEBALID syndrome | 1 | Mar 6, 2023 |
| CHARGE syndrome | 3 | Sep 26, 2025 |
| CHEK2-related cancer predisposition | 2 | Sep 26, 2025 |
| COACH syndrome 1 | 1 | May 28, 2020 |
| Capillary malformation-arteriovenous malformation 1 | 4 | Jul 25, 2023 |
| Capillary malformation-arteriovenous malformation 2 | 1 | Sep 8, 2022 |
| Cardiac valvular defect, developmental | 1 | Sep 8, 2022 |
| Cardiomyopathy, familial restrictive, 3 | 1 | May 28, 2020 |
| Cardiospondylocarpofacial syndrome | 1 | Jan 14, 2021 |
| Carney complex, type 1 | 1 | Jan 14, 2021 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 1 | Sep 8, 2022 |
| Cataract 1 multiple types | 1 | Jan 28, 2024 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Sep 26, 2025 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 1 | May 28, 2020 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 6 | Jul 30, 2021 |
| Charcot-Marie-Tooth disease type 4J | 1 | Aug 4, 2020 |
| Charcot-Marie-Tooth disease, demyelinating, type 1G | 1 | Apr 2, 2021 |
| Childhood hypophosphatasia | 2 | Jan 14, 2021 |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 | Sep 2, 2020 |
| Chédiak-Higashi syndrome | 3 | Sep 8, 2022 |
| Ciliary dyskinesia, primary, 36, X-linked | 1 | Feb 3, 2021 |
| Ciliary dyskinesia, primary, 37 | 14 | Sep 26, 2025 |
| Ciliary dyskinesia, primary, 40 | 10 | Sep 26, 2025 |
| Ciliary dyskinesia, primary, 43 | 1 | Mar 6, 2023 |
| Ciliary dyskinesia, primary, 49, without situs inversus | 1 | Sep 26, 2025 |
| Ciliary dyskinesia, primary, 50 | 1 | Sep 26, 2025 |
| Cohen syndrome | 1 | Sep 25, 2025 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 3 | Jan 28, 2024 |
| Combined immunodeficiency due to DOCK8 deficiency | 2 | Sep 8, 2022 |
| Combined immunodeficiency due to LRBA deficiency | 2 | Jun 3, 2021 |
| Combined immunodeficiency with skin granulomas | 2 | Sep 26, 2025 |
| Combined oxidative phosphorylation defect type 23 | 2 | Aug 30, 2019 |
| Complement component 6 deficiency | 1 | Sep 8, 2022 |
| Complex cortical dysplasia with other brain malformations 6 | 1 | Mar 6, 2023 |
| Cone-rod dystrophy 3 | 1 | May 4, 2021 |
| Congenital anomalies of kidney and urinary tract 2 | 2 | Sep 8, 2022 |
| Congenital anomalies of kidney and urinary tract 3 | 2 | Jan 14, 2021 |
| Congenital heart defects, multiple types, 5 | 1 | Sep 2, 2020 |
| Congenital heart defects, multiple types, 6 | 1 | Aug 4, 2020 |
| Congenital microvillous atrophy | 1 | May 28, 2020 |
| Congenital myasthenic syndrome 4A | 1 | Mar 6, 2020 |
| Conotruncal heart malformations | 2 | Jan 28, 2024 |
| Coxopodopatellar syndrome | 1 | May 15, 2023 |
| Crouzon syndrome | 1 | Aug 4, 2020 |
| Cystic fibrosis | 462 | Sep 26, 2025 |
| DDX41-related hematologic malignancy predisposition syndrome | 4 | Sep 26, 2025 |
| Deafness-lymphedema-leukemia syndrome | 1 | Sep 25, 2025 |
| Deficiency of adenosine deaminase 2 | 4 | Sep 8, 2022 |
| Dehydrated hereditary stomatocytosis 2 | 1 | Sep 26, 2025 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 2 | Sep 25, 2025 |
| Delpire-McNeill syndrome | 1 | Sep 8, 2022 |
| Dent disease type 1 | 1 | Mar 6, 2023 |
| Dent disease type 2 | 1 | Jul 30, 2021 |
| Dermatitis, atopic, 2 | 1 | Nov 3, 2020 |
| Developmental and epileptic encephalopathy 94 | 2 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 11 | 1 | Sep 26, 2025 |
| Developmental and epileptic encephalopathy, 13 | 1 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 18 | 1 | Sep 26, 2025 |
| Developmental and epileptic encephalopathy, 4 | 1 | Mar 6, 2023 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Mar 6, 2020 |
| DiGeorge syndrome | 1 | Sep 26, 2025 |
| Diabetes insipidus, nephrogenic, X-linked | 2 | Sep 26, 2025 |
| Diabetes mellitus, noninsulin-dependent, 1 | 1 | Sep 8, 2022 |
| Diamond-Blackfan anemia 1 | 2 | Sep 2, 2020 |
| Diamond-Blackfan anemia 10 | 1 | Aug 30, 2019 |
| Diamond-Blackfan anemia 6 | 1 | Dec 1, 2020 |
| Diaphragmatic hernia 3 | 1 | Sep 25, 2025 |
| Dilated cardiomyopathy 1A | 3 | Sep 26, 2025 |
| Dilated cardiomyopathy 1D | 2 | Sep 26, 2025 |
| Dilated cardiomyopathy 1DD | 1 | May 28, 2020 |
| Donnai-Barrow syndrome | 1 | Feb 3, 2021 |
| Drash syndrome | 1 | May 28, 2020 |
| Dyskeratosis congenita, X-linked | 2 | Apr 1, 2019 |
| Dyskeratosis congenita, autosomal dominant 2 | 11 | Jul 25, 2023 |
| Dyskeratosis congenita, autosomal dominant 3 | 2 | Sep 26, 2025 |
| Dyskeratosis congenita, autosomal dominant 6 | 3 | Sep 8, 2022 |
| Dyskeratosis congenita, autosomal recessive 3 | 2 | Mar 5, 2019 |
| Dyskeratosis congenita, autosomal recessive 5 | 1 | Jul 25, 2023 |
| Dystonia 12 | 1 | Sep 8, 2022 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | May 8, 2019 |
| Ehlers-Danlos syndrome, classic type, 1 | 2 | Sep 8, 2022 |
| Ehlers-Danlos syndrome, periodontal type 1 | 1 | May 4, 2021 |
| Ehlers-Danlos syndrome, periodontal type 2 | 1 | Jul 30, 2021 |
| Ehlers-Danlos syndrome, type 4 | 3 | Jul 25, 2023 |
| Elliptocytosis 1 | 1 | Sep 25, 2025 |
| Elliptocytosis 2 | 1 | Sep 25, 2025 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Sep 26, 2025 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 | Mar 6, 2020 |
| Epilepsy, early-onset, with or without developmental delay | 1 | May 28, 2020 |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 1 | Oct 13, 2020 |
| Epiphyseal dysplasia, multiple, 3 | 1 | Nov 3, 2020 |
| Episodic ataxia type 2 | 1 | Oct 13, 2020 |
| Episodic pain syndrome, familial, 2 | 1 | Sep 25, 2025 |
| Erythrocytosis, familial, 3 | 1 | Apr 2, 2021 |
| Erythrocytosis, familial, 4 | 2 | Sep 26, 2025 |
| Exudative vitreoretinopathy 4 | 1 | May 15, 2023 |
| Fabry disease | 1 | Jan 28, 2024 |
| Factor H deficiency | 1 | Sep 26, 2025 |
| Factor I deficiency | 1 | Sep 25, 2025 |
| Familial Mediterranean fever | 2 | Mar 6, 2023 |
| Familial Mediterranean fever, autosomal dominant | 5 | Sep 26, 2025 |
| Familial acute necrotizing encephalopathy | 1 | Sep 26, 2025 |
| Familial adenomatous polyposis 1 | 1 | Nov 3, 2020 |
| Familial adenomatous polyposis 2 | 1 | Jan 28, 2024 |
| Familial adenomatous polyposis 4 | 1 | Aug 4, 2020 |
| Familial cancer of breast | 2 | Jan 6, 2022 |
| Familial cold autoinflammatory syndrome 2 | 1 | Sep 8, 2022 |
| Familial dysfibrinogenemia | 1 | Sep 8, 2022 |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 | Sep 26, 2025 |
| Familial hemophagocytic lymphohistiocytosis 4 | 1 | Dec 5, 2019 |
| Familial hypokalemia-hypomagnesemia | 2 | Jan 6, 2022 |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 | Feb 3, 2021 |
| Familial juvenile hyperuricemic nephropathy type 2 | 1 | Mar 6, 2023 |
| Familial medullary thyroid carcinoma | 1 | May 15, 2023 |
| Familial pulmonary capillary hemangiomatosis | 1 | Mar 6, 2023 |
| Familial renal glucosuria | 3 | Sep 26, 2025 |
| Familial spontaneous pneumothorax | 2 | Jul 25, 2023 |
| Familial visceral amyloidosis, Ostertag type | 2 | Mar 6, 2020 |
| Fanconi anemia complementation group A | 4 | Sep 8, 2022 |
| Fanconi anemia complementation group B | 1 | Jan 28, 2024 |
| Fanconi anemia complementation group E | 1 | Sep 2, 2020 |
| Fanconi anemia, complementation group W | 3 | Jul 30, 2021 |
| Fanconi renotubular syndrome 2 | 1 | Nov 3, 2020 |
| Fanconi renotubular syndrome 3 | 1 | Jan 6, 2022 |
| Finnish congenital nephrotic syndrome | 1 | Sep 8, 2022 |
| Focal segmental glomerulosclerosis 7 | 1 | Jan 6, 2022 |
| Focal segmental glomerulosclerosis 8 | 1 | Aug 30, 2019 |
| Focal segmental glomerulosclerosis 9 | 4 | Sep 26, 2025 |
| Fraser syndrome 2 | 3 | Nov 3, 2020 |
| Frasier syndrome | 1 | May 28, 2020 |
| Freeman-Sheldon syndrome | 1 | May 28, 2020 |
| Galloway-Mowat syndrome 1 | 1 | Mar 6, 2023 |
| Gaucher disease type I | 3 | Sep 8, 2022 |
| Gaucher disease type II | 1 | May 28, 2020 |
| Gaucher disease type III | 1 | May 28, 2020 |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 1 | May 28, 2020 |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 1 | Sep 8, 2022 |
| Genitourinary and/or brain malformation syndrome | 3 | Oct 13, 2020 |
| Glomerulopathy with fibronectin deposits 2 | 7 | Sep 26, 2025 |
| Glycogen storage disease type III | 2 | Sep 26, 2025 |
| Glycogen storage disease, type II | 2 | May 28, 2020 |
| Glycogen storage disease, type V | 1 | Sep 25, 2025 |
| Gray platelet syndrome | 1 | Jul 30, 2021 |
| Greig cephalopolysyndactyly syndrome | 1 | Jul 30, 2021 |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 | Jul 25, 2023 |
| Hearing loss, autosomal dominant 34, with or without inflammation | 1 | Sep 8, 2022 |
| Hearing loss, autosomal dominant 75 | 1 | May 28, 2020 |
| Hematuria, benign familial, 1 | 1 | Sep 26, 2025 |
| Hereditary factor VIII deficiency disease | 1 | Sep 8, 2022 |
| Hereditary factor XI deficiency disease | 1 | Sep 8, 2022 |
| Hereditary spastic paraplegia 11 | 1 | Sep 8, 2022 |
| Hereditary spherocytosis type 1 | 1 | Sep 25, 2025 |
| Hereditary spherocytosis type 2 | 2 | Sep 26, 2025 |
| Hereditary spherocytosis type 3 | 4 | Sep 26, 2025 |
| Hereditary spherocytosis type 4 | 5 | Sep 26, 2025 |
| Hermansky-Pudlak syndrome 1 | 6 | Sep 25, 2025 |
| Hermansky-Pudlak syndrome 2 | 4 | May 8, 2019 |
| Hermansky-Pudlak syndrome 4 | 5 | Jan 28, 2024 |
| Heterotaxy, visceral, 8, autosomal | 2 | Jun 3, 2021 |
| Hirschsprung disease, susceptibility to, 1 | 1 | Mar 6, 2023 |
| Histiocytic medullary reticulosis | 1 | Sep 8, 2022 |
| Holoprosencephaly 11 | 1 | Sep 8, 2022 |
| Holoprosencephaly 9 | 1 | May 28, 2020 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 | Sep 26, 2025 |
| Hurler syndrome | 2 | May 28, 2020 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | Mar 6, 2023 |
| Hyper-IgE recurrent infection syndrome 5, autosomal recessive | 1 | Apr 2, 2021 |
| Hyperaldosteronism, familial, type IV | 1 | Sep 26, 2025 |
| Hypercholesterolemia, autosomal dominant, 3 | 1 | Jul 25, 2023 |
| Hypercholesterolemia, autosomal dominant, type B | 2 | Sep 25, 2025 |
| Hypercholesterolemia, familial, 1 | 3 | Sep 26, 2025 |
| Hyperparathyroidism, transient neonatal | 1 | Mar 6, 2020 |
| Hyperphosphatasemia with bone disease | 1 | Nov 14, 2019 |
| Hypertrophic cardiomyopathy 1 | 3 | Mar 6, 2023 |
| Hypertrophic cardiomyopathy 15 | 1 | Jan 6, 2022 |
| Hypertrophic cardiomyopathy 2 | 1 | May 28, 2020 |
| Hypertrophic cardiomyopathy 7 | 1 | Sep 26, 2025 |
| Hypertrophic cardiomyopathy 8 | 1 | Sep 26, 2025 |
| Hypokalemic periodic paralysis, type 1 | 3 | Jan 28, 2024 |
| Hypomyelination and Congenital Cataract | 1 | Sep 26, 2025 |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 | Aug 4, 2020 |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 2 | Sep 26, 2025 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Mar 6, 2023 |
| Ichthyosis vulgaris | 3 | Oct 13, 2020 |
| Idiopathic pulmonary arterial hypertension | 1 | Sep 13, 2021 |
| Immunodeficiency, common variable, 10 | 1 | May 28, 2020 |
| Immunodeficiency, common variable, 7 | 2 | Sep 26, 2025 |
| Inflammatory bowel disease 13 | 1 | Sep 8, 2022 |
| Inflammatory bowel disease 29 | 1 | Aug 4, 2020 |
| Inherited susceptibility to asthma | 1 | Sep 26, 2025 |
| Intellectual developmental disorder 61 | 1 | Feb 3, 2021 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Mar 6, 2023 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Aug 4, 2020 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Jul 30, 2021 |
| Intellectual developmental disorder, X-linked 111 | 1 | Sep 26, 2025 |
| Intellectual disability | 1 | Sep 25, 2025 |
| Intellectual disability, X-linked 102 | 1 | May 4, 2021 |
| Intellectual disability, X-linked 99 | 2 | Jul 25, 2023 |
| Intellectual disability, X-linked, syndromic, 35 | 1 | Aug 4, 2020 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | Sep 8, 2022 |
| Intellectual disability, autosomal dominant 3 | 1 | Dec 5, 2019 |
| Intellectual disability, autosomal dominant 43 | 1 | Sep 26, 2025 |
| Intellectual disability, autosomal dominant 47 | 2 | Jan 28, 2024 |
| Intellectual disability, autosomal dominant 56 | 1 | Jan 28, 2024 |
| Intellectual disability, autosomal recessive 27 | 1 | Sep 8, 2022 |
| Intellectual disability, autosomal recessive 65 | 2 | Dec 5, 2019 |
| Intellectual disability, autosomal recessive 66 | 2 | Aug 4, 2020 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Sep 8, 2022 |
| Interstitial lung disease 1 | 1 | May 15, 2023 |
| Interstitial lung disease 2 | 2 | Sep 8, 2022 |
| Interstitial lung disease due to ABCA3 deficiency | 60 | Sep 26, 2025 |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 2 | Sep 25, 2025 |
| Ischemic stroke | 1 | Aug 4, 2020 |
| Isolated hyperchlorhidrosis | 1 | Nov 14, 2019 |
| Joubert syndrome 10 | 2 | Sep 26, 2025 |
| Joubert syndrome 17 | 4 | Sep 26, 2025 |
| Joubert syndrome 23 | 3 | Jul 25, 2023 |
| Joubert syndrome 24 | 1 | Jan 14, 2021 |
| Joubert syndrome 33 | 2 | Feb 3, 2021 |
| Joubert syndrome 9 | 3 | Sep 25, 2025 |
| Joubert syndrome with renal defect | 1 | Oct 13, 2020 |
| Junctional epidermolysis bullosa with pyloric atresia | 3 | Oct 13, 2020 |
| Juvenile myelomonocytic leukemia | 1 | Sep 13, 2021 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2 | Sep 26, 2025 |
| KNOPS BLOOD GROUP SYSTEM | 1 | Sep 8, 2022 |
| Kabuki syndrome 1 | 3 | May 28, 2020 |
| Kartagener syndrome | 5 | Jan 28, 2024 |
| Kleefstra syndrome 2 | 2 | Jan 28, 2024 |
| Lambdoidal craniosynostosis | 2 | Aug 4, 2020 |
| Leber optic atrophy | 1 | Mar 6, 2023 |
| Left ventricular noncompaction 1 | 1 | May 28, 2020 |
| Leigh syndrome | 1 | Mar 6, 2023 |
| Li-Fraumeni syndrome 1 | 2 | Sep 2, 2020 |
| Liddle syndrome 1 | 4 | May 28, 2020 |
| Liddle syndrome 2 | 1 | Mar 6, 2023 |
| Lissencephaly due to TUBA1A mutation | 2 | Jan 6, 2022 |
| Loeys-Dietz syndrome 2 | 1 | Jan 28, 2024 |
| Loeys-Dietz syndrome 4 | 1 | Sep 25, 2025 |
| Long QT syndrome 1 | 3 | Jan 28, 2024 |
| Lowe syndrome | 1 | Mar 6, 2023 |
| Lower urinary tract obstruction, congenital | 1 | Sep 26, 2025 |
| Luscan-Lumish syndrome | 1 | Mar 6, 2023 |
| Lynch syndrome 1 | 2 | Sep 8, 2022 |
| Lynch syndrome 5 | 3 | Sep 8, 2022 |
| Lysinuric protein intolerance | 1 | Sep 26, 2025 |
| MELAS syndrome | 2 | Mar 6, 2023 |
| MERRF syndrome | 1 | Sep 26, 2025 |
| MHC class I deficiency | 1 | Jun 3, 2021 |
| MIRAGE syndrome | 1 | Oct 13, 2020 |
| Macrocephaly-autism syndrome | 1 | May 8, 2019 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 7 | Sep 26, 2025 |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 | Sep 13, 2021 |
| Malan overgrowth syndrome | 1 | May 28, 2020 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | May 28, 2020 |
| Mannose-binding lectin deficiency | 1 | Sep 25, 2025 |
| Marfan syndrome | 7 | Mar 6, 2023 |
| Marshall-Smith syndrome | 1 | May 28, 2020 |
| Meckel syndrome, type 6 | 1 | May 28, 2020 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 | Apr 2, 2021 |
| Metaphyseal chondrodysplasia, Schmid type | 1 | Aug 30, 2019 |
| Microcephaly 16, primary, autosomal recessive | 1 | Mar 6, 2020 |
| Microcephaly 5, primary, autosomal recessive | 3 | Jan 28, 2024 |
| Mismatch repair cancer syndrome 1 | 1 | Mar 6, 2023 |
| Mismatch repair cancer syndrome 2 | 2 | Mar 6, 2023 |
| Mitochondrial complex I deficiency | 1 | Sep 25, 2025 |
| Mitochondrial complex I deficiency, nuclear type 30 | 1 | Jul 31, 2019 |
| Mitochondrial complex I deficiency, nuclear type 4 | 1 | Sep 8, 2022 |
| Monocytopenia with susceptibility to infections | 3 | Jul 25, 2023 |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 2 | Sep 26, 2025 |
| Monosomy 7 myelodysplasia and leukemia syndrome 2 | 2 | Jan 28, 2024 |
| Mowat-Wilson syndrome | 1 | Jan 6, 2022 |
| Mucopolysaccharidosis | 3 | Sep 25, 2025 |
| Mucopolysaccharidosis, MPS-IV-B | 1 | Sep 8, 2022 |
| Muenke syndrome | 1 | Sep 8, 2022 |
| Muir-Torré syndrome | 1 | Sep 25, 2025 |
| Mullerian aplasia and hyperandrogenism | 1 | Aug 4, 2020 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 3 | Jan 28, 2024 |
| Multiple endocrine neoplasia, type 1 | 1 | May 28, 2020 |
| Multiple epiphyseal dysplasia type 5 | 1 | Apr 2, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 2 | Sep 8, 2022 |
| Myelodysplastic syndrome | 2 | Jan 28, 2024 |
| Myhre syndrome | 1 | Sep 8, 2022 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 2 | Apr 2, 2021 |
| NPHP3-related Meckel-like syndrome | 4 | Jan 28, 2024 |
| Nail-patella syndrome | 1 | May 28, 2020 |
| Nephronophthisis 12 | 1 | Jan 14, 2021 |
| Nephronophthisis 14 | 1 | Sep 26, 2025 |
| Nephronophthisis 15 | 2 | Sep 13, 2021 |
| Nephropathic cystinosis | 1 | May 4, 2021 |
| Nephrotic syndrome, type 2 | 3 | Sep 25, 2025 |
| Nephrotic syndrome, type 4 | 1 | May 28, 2020 |
| Neural tube defect | 1 | Sep 13, 2021 |
| Neurodegeneration with brain iron accumulation 2B | 2 | May 28, 2020 |
| Neurodevelopmental disorder | 1 | Sep 26, 2025 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Sep 25, 2025 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Jul 31, 2019 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Jan 28, 2024 |
| Neurofibromatosis, type 1 | 13 | Sep 26, 2025 |
| Neuromuscular disease | 1 | Sep 8, 2022 |
| Neutropenia, severe congenital, 1, autosomal dominant | 3 | Sep 25, 2025 |
| Neutropenia, severe congenital, 2, autosomal dominant | 1 | Sep 26, 2025 |
| Noonan syndrome 10 | 1 | Jul 25, 2023 |
| Noonan syndrome 4 | 2 | Jun 3, 2021 |
| Oculocutaneous albinism type 1A | 2 | Mar 6, 2023 |
| Oculocutaneous albinism type 1B | 2 | Mar 6, 2023 |
| Odonto-onycho-dermal dysplasia | 1 | May 15, 2023 |
| Okur-Chung neurodevelopmental syndrome | 1 | May 28, 2020 |
| Ornithine carbamoyltransferase deficiency | 1 | Mar 6, 2023 |
| Osteogenesis imperfecta | 2 | Sep 26, 2025 |
| Osteogenesis imperfecta type I | 2 | Aug 4, 2020 |
| Osteogenesis imperfecta type III | 1 | May 28, 2020 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 2 | Jul 30, 2021 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Nov 3, 2020 |
| PMM2-congenital disorder of glycosylation | 3 | Jul 25, 2023 |
| Paget disease of bone 6 | 2 | Aug 4, 2020 |
| Pancytopenia due to IKZF1 mutations | 1 | Aug 4, 2020 |
| Pancytopenia-developmental delay syndrome | 2 | Sep 25, 2025 |
| Peeling skin syndrome 6 | 1 | Mar 6, 2023 |
| Pelger-Huët anomaly | 1 | Aug 30, 2019 |
| Pelizaeus-Merzbacher disease | 2 | Sep 26, 2025 |
| Periventricular nodular heterotopia 9 | 1 | Sep 8, 2022 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 4 | Mar 6, 2023 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 6 | May 15, 2023 |
| Pfeiffer syndrome | 1 | Aug 30, 2019 |
| Phelan-McDermid syndrome | 1 | Feb 3, 2021 |
| Phenylketonuria | 1 | Sep 8, 2022 |
| Pheochromocytoma/paraganglioma syndrome 4 | 1 | Jun 3, 2021 |
| Platelet-type bleeding disorder 15 | 1 | Sep 8, 2022 |
| Platelet-type bleeding disorder 17 | 1 | Apr 2, 2021 |
| Platelet-type bleeding disorder 20 | 3 | Sep 8, 2022 |
| Polycystic kidney disease 2 | 2 | Mar 6, 2023 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 1 | Jul 30, 2021 |
| Polycystic kidney disease 4 | 5 | Sep 26, 2025 |
| Polycystic kidney disease, adult type | 16 | Sep 26, 2025 |
| Polycystic liver disease 4 with or without kidney cysts | 4 | Sep 25, 2025 |
| Polydactyly, postaxial, type a7 | 1 | Aug 4, 2020 |
| Polyglandular autoimmune syndrome, type 1 | 1 | Sep 2, 2020 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 2 | Oct 13, 2020 |
| Primary ciliary dyskinesia 11 | 1 | Sep 8, 2022 |
| Primary ciliary dyskinesia 12 | 3 | Sep 26, 2025 |
| Primary ciliary dyskinesia 13 | 4 | Mar 6, 2023 |
| Primary ciliary dyskinesia 14 | 2 | Feb 3, 2021 |
| Primary ciliary dyskinesia 15 | 5 | Sep 8, 2022 |
| Primary ciliary dyskinesia 18 | 1 | Jan 28, 2024 |
| Primary ciliary dyskinesia 2 | 2 | Sep 26, 2025 |
| Primary ciliary dyskinesia 20 | 4 | Sep 26, 2025 |
| Primary ciliary dyskinesia 21 | 2 | Sep 25, 2025 |
| Primary ciliary dyskinesia 22 | 1 | May 15, 2023 |
| Primary ciliary dyskinesia 24 | 2 | Mar 6, 2023 |
| Primary ciliary dyskinesia 25 | 1 | Jun 3, 2021 |
| Primary ciliary dyskinesia 26 | 2 | Sep 25, 2025 |
| Primary ciliary dyskinesia 27 | 1 | Jan 6, 2022 |
| Primary ciliary dyskinesia 3 | 24 | Sep 26, 2025 |
| Primary ciliary dyskinesia 30 | 1 | Oct 13, 2020 |
| Primary ciliary dyskinesia 34 | 2 | Sep 8, 2022 |
| Primary ciliary dyskinesia 5 | 11 | Sep 26, 2025 |
| Primary ciliary dyskinesia 7 | 19 | Sep 26, 2025 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | May 8, 2019 |
| Progressive familial intrahepatic cholestasis type 3 | 2 | Sep 26, 2025 |
| Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 1 | May 28, 2020 |
| Pseudo von Willebrand disease | 1 | Sep 13, 2021 |
| Pseudohypoaldosteronism type 2B | 1 | Aug 30, 2019 |
| Pseudohypoaldosteronism type 2C | 2 | Sep 8, 2022 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 6 | May 15, 2023 |
| Pseudohypoaldosteronism, type IB2, autosomal recessive | 1 | May 15, 2023 |
| Pseudohypoparathyroidism | 8 | Oct 13, 2020 |
| Pseudohypoparathyroidism type 1B | 1 | Jan 31, 2019 |
| Pseudohypoparathyroidism type I A | 1 | Jul 25, 2023 |
| Pseudopseudohypoparathyroidism | 4 | Sep 25, 2025 |
| Pulmonary alveolar proteinosis with hypogammaglobulinemia | 1 | Mar 6, 2023 |
| Pulmonary arterial hypertension | 5 | Sep 26, 2025 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 | 1 | Sep 25, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 13 | Sep 26, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 | 2 | Nov 3, 2020 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 23 | Sep 26, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 7 | Sep 26, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | 2 | Jan 28, 2024 |
| Pulmonary hypertension, primary, 1 | 2 | Jul 25, 2023 |
| Pulmonary hypertension, primary, 2 | 1 | Sep 8, 2022 |
| Pulmonary hypertension, primary, 4 | 1 | Mar 6, 2023 |
| Pulmonary hypertension, primary, 5 | 3 | Sep 26, 2025 |
| Pulmonary venoocclusive disease 1 | 2 | Sep 8, 2022 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Sep 25, 2025 |
| Pyruvate kinase deficiency of red cells | 1 | Dec 5, 2019 |
| Radial aplasia-thrombocytopenia syndrome | 2 | Jan 28, 2024 |
| Renal coloboma syndrome | 2 | Sep 8, 2022 |
| Renal cysts and diabetes syndrome | 1 | Sep 25, 2025 |
| Renal dysplasia, cystic, susceptibility to | 3 | Mar 6, 2023 |
| Renal tubular dysgenesis of genetic origin | 2 | Sep 25, 2025 |
| Renpenning syndrome | 1 | Mar 6, 2023 |
| Respiratory distress associated with prematurity | 1 | Jul 31, 2019 |
| Retinitis pigmentosa 23 | 1 | Mar 6, 2023 |
| Retinoblastoma | 1 | Jul 30, 2021 |
| Rett syndrome | 2 | Jan 28, 2024 |
| Ritscher-Schinzel syndrome 2 | 1 | Sep 8, 2022 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 3 | Sep 25, 2025 |
| STAT3-related early-onset multisystem autoimmune disease | 2 | Mar 6, 2023 |
| STING-associated vasculopathy with onset in infancy | 3 | Mar 6, 2023 |
| Saethre-Chotzen syndrome | 1 | May 28, 2020 |
| Saldino-Mainzer syndrome | 1 | Sep 25, 2025 |
| Schizophrenia | 2 | Sep 25, 2025 |
| Schizophrenia 4 | 1 | Sep 25, 2025 |
| Seizures, benign familial infantile, 3 | 1 | Dec 1, 2020 |
| Severe X-linked myotubular myopathy | 2 | Sep 26, 2025 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2 | May 28, 2020 |
| Severe early-childhood-onset retinal dystrophy | 2 | May 28, 2020 |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 3 | Sep 13, 2021 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Nov 14, 2019 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 1 | Apr 2, 2021 |
| Short-rib thoracic dysplasia 14 with polydactyly | 1 | May 28, 2020 |
| Shwachman-Diamond syndrome 1 | 1 | Jan 28, 2024 |
| Sickle cell-hemoglobin C disease | 2 | Mar 6, 2023 |
| Sideroblastic anemia 2 | 2 | Sep 8, 2022 |
| Sifrim-Hitz-Weiss syndrome | 1 | Jan 28, 2024 |
| Simpson-Golabi-Behmel syndrome type 2 | 2 | Mar 6, 2023 |
| Smith-Lemli-Opitz syndrome | 1 | May 28, 2020 |
| Solitary median maxillary central incisor syndrome | 1 | Sep 26, 2025 |
| Sotos syndrome | 2 | May 28, 2020 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 | Dec 1, 2020 |
| Specific language impairment 5 | 1 | May 4, 2021 |
| Spermatogenic failure 46 | 5 | Sep 8, 2022 |
| Spinocerebellar ataxia 45 | 1 | May 28, 2020 |
| Spinocerebellar ataxia 50 | 1 | Sep 25, 2025 |
| Spinocerebellar ataxia type 42 | 1 | Aug 4, 2020 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 1 | May 15, 2023 |
| Spondylocarpotarsal synostosis syndrome | 2 | Nov 3, 2020 |
| Spondyloepiphyseal dysplasia congenita | 1 | Aug 4, 2020 |
| Stickler syndrome type 1 | 2 | Jul 30, 2021 |
| Stickler syndrome type 2 | 2 | Sep 26, 2025 |
| Stickler syndrome, type 5 | 1 | Jun 3, 2021 |
| Sulfite oxidase deficiency | 1 | Mar 6, 2020 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 10 | Sep 25, 2025 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 12 | Jul 25, 2023 |
| Surfactant metabolism dysfunction, pulmonary, 4 | 4 | Sep 25, 2025 |
| Surfactant metabolism dysfunction, pulmonary, 5 | 4 | Sep 8, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Nov 14, 2019 |
| Systemic lupus erythematosus | 1 | Sep 8, 2022 |
| TWIST1-related craniosynostosis | 2 | May 15, 2023 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 3 | Sep 8, 2022 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Sep 25, 2025 |
| Thanatophoric dysplasia type 1 | 2 | Jan 28, 2024 |
| Thrombocythemia 1 | 2 | Mar 6, 2023 |
| Thrombocythemia 2 | 2 | Sep 26, 2025 |
| Thrombocythemia 3 | 1 | May 28, 2020 |
| Thrombocytopenia | 1 | Sep 13, 2021 |
| Thrombocytopenia 2 | 2 | Sep 25, 2025 |
| Thrombocytopenia 5 | 1 | Jan 14, 2021 |
| Tibial muscular dystrophy | 1 | Sep 26, 2025 |
| Tooth agenesis, selective, X-linked, 1 | 2 | Sep 26, 2025 |
| Townes-Brocks syndrome 1 | 3 | Sep 8, 2022 |
| Treacher Collins syndrome 1 | 7 | Sep 26, 2025 |
| Trichohepatoenteric syndrome 2 | 2 | May 8, 2019 |
| Tuberous sclerosis 1 | 1 | Jul 25, 2023 |
| Tuberous sclerosis 2 | 16 | Sep 26, 2025 |
| Tumor predisposition syndrome 3 | 2 | Sep 26, 2025 |
| Tyrosinase-positive oculocutaneous albinism | 3 | Sep 8, 2022 |
| Usher syndrome type 1D | 2 | Jan 6, 2022 |
| VEXAS syndrome | 1 | May 15, 2023 |
| Vesicoureteral reflux 2 | 1 | Sep 25, 2025 |
| Vesicoureteral reflux 3 | 1 | Sep 25, 2025 |
| Vesicoureteral reflux 8 | 4 | Sep 26, 2025 |
| Visceral myopathy 1 | 1 | Jan 14, 2021 |
| Von Hippel-Lindau syndrome | 7 | Sep 26, 2025 |
| Wilms tumor 1 | 1 | May 28, 2020 |
| Wilson disease | 7 | Jul 25, 2023 |
| X-linked Alport syndrome | 3 | Jan 28, 2024 |
| X-linked agammaglobulinemia | 1 | Sep 26, 2025 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 1 | Jul 30, 2021 |
| X-linked recessive nephrolithiasis with renal failure | 1 | Mar 6, 2023 |
| X-linked sideroblastic anemia 1 | 1 | Jan 28, 2024 |
| Xeroderma pigmentosum, group D | 2 | Jun 3, 2021 |
| not provided | 29 | Mar 6, 2023 |
| von Willebrand disease type 1 | 2 | Jan 28, 2024 |
| von Willebrand disease type 2 | 2 | Sep 2, 2020 |
