| 3 beta-Hydroxysteroid dehydrogenase deficiency | 2 | Nov 24, 2023 |
| ADULT syndrome | 1 | Oct 9, 2023 |
| Acrodermatitis continua suppurativa of Hallopeau | 1 | Oct 9, 2023 |
| Adams-Oliver syndrome 5 | 1 | Oct 30, 2023 |
| Adult hypophosphatasia | 2 | Oct 30, 2023 |
| Aicardi-Goutieres syndrome 7 | 1 | Oct 30, 2023 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Oct 9, 2023 |
| Allan-Herndon-Dudley syndrome | 1 | Oct 30, 2023 |
| Alzheimer disease type 1 | 1 | Oct 9, 2023 |
| Amyotrophic lateral sclerosis type 23 | 1 | Nov 2, 2023 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 3 | Nov 2, 2023 |
| Angioedema, hereditary, 8 | 1 | Nov 24, 2023 |
| Aortic aneurysm, familial thoracic 4 | 1 | Oct 30, 2023 |
| Aortic aneurysm, familial thoracic 7 | 1 | Nov 24, 2023 |
| Apolipoprotein c-III deficiency | 1 | Oct 9, 2023 |
| Argininosuccinate lyase deficiency | 1 | Nov 24, 2023 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 1 | Oct 30, 2023 |
| Arrhythmogenic right ventricular dysplasia 9 | 2 | Nov 24, 2023 |
| Arthrogryposis multiplex congenita 5 | 1 | Oct 30, 2023 |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 1 | Oct 9, 2023 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 | Oct 30, 2023 |
| Aspartylglucosaminuria | 2 | Nov 24, 2023 |
| Ataxia-telangiectasia syndrome | 1 | Oct 30, 2023 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Oct 9, 2023 |
| Autism, susceptibility to, 5 | 1 | Nov 24, 2023 |
| Autosomal dominant Robinow syndrome 3 | 1 | Nov 24, 2023 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 1 | Nov 2, 2023 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Oct 30, 2023 |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 | Oct 9, 2023 |
| Autosomal dominant nonsyndromic hearing loss 11 | 2 | Nov 24, 2023 |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 | Oct 30, 2023 |
| Autosomal dominant nonsyndromic hearing loss 56 | 1 | Nov 24, 2023 |
| Autosomal recessive Alport syndrome | 1 | Oct 9, 2023 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 1 | Oct 9, 2023 |
| Autosomal recessive cutis laxa type 2B | 1 | Nov 2, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Nov 24, 2023 |
| Autosomal recessive nonsyndromic hearing loss 16 | 2 | Nov 24, 2023 |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Nov 24, 2023 |
| Autosomal recessive nonsyndromic hearing loss 2 | 1 | Oct 30, 2023 |
| Autosomal recessive nonsyndromic hearing loss 3 | 2 | Nov 24, 2023 |
| Autosomal recessive nonsyndromic hearing loss 4 | 2 | Oct 30, 2023 |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 | Oct 9, 2023 |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 | Oct 9, 2023 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 2 | Nov 24, 2023 |
| Bardet-Biedl syndrome 2 | 1 | Nov 2, 2023 |
| Bernard Soulier syndrome | 1 | Oct 9, 2023 |
| Beta-thalassemia HBB/LCRB | 5 | Nov 24, 2023 |
| Bethlem myopathy 1A | 8 | Nov 24, 2023 |
| Bethlem myopathy 2 | 1 | Nov 2, 2023 |
| Bleeding disorder, platelet-type, 13, susceptibility to | 2 | Oct 30, 2023 |
| Bleeding disorder, platelet-type, 21 | 1 | Nov 24, 2023 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | Oct 9, 2023 |
| Bloom syndrome | 1 | Nov 24, 2023 |
| Brain malformations with or without urinary tract defects | 1 | Nov 24, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 7 | Nov 24, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 11 | Nov 24, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 3 | Nov 24, 2023 |
| CBL-related disorder | 1 | Nov 2, 2023 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Nov 2, 2023 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Oct 9, 2023 |
| Cardiac valvular dysplasia, X-linked | 1 | Nov 2, 2023 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 1 | Oct 9, 2023 |
| Central core myopathy | 2 | Nov 2, 2023 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 2 | Nov 24, 2023 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 1 | Nov 24, 2023 |
| Cerebral cavernous malformation | 1 | Nov 24, 2023 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | Nov 24, 2023 |
| Charcot-Marie-Tooth disease axonal type 2U | 1 | Oct 30, 2023 |
| Charcot-Marie-Tooth disease type 4C | 1 | Oct 30, 2023 |
| Chopra-Amiel-Gordon syndrome | 1 | Oct 9, 2023 |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 | Oct 9, 2023 |
| Ciliary dyskinesia, primary, 40 | 1 | Oct 9, 2023 |
| Clark-Baraitser syndrome | 1 | Oct 30, 2023 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 5 | Nov 24, 2023 |
| Coffin-Siris syndrome 1 | 2 | Nov 2, 2023 |
| Coffin-Siris syndrome 10 | 1 | Nov 24, 2023 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 2 | Oct 30, 2023 |
| Colorectal cancer, susceptibility to, 10 | 3 | Nov 24, 2023 |
| Colorectal cancer, susceptibility to, 12 | 3 | Nov 2, 2023 |
| Complex cortical dysplasia with other brain malformations 3 | 1 | Nov 2, 2023 |
| Complex cortical dysplasia with other brain malformations 7 | 1 | Nov 24, 2023 |
| Cone-rod dystrophy 6 | 1 | Oct 30, 2023 |
| Congenital amegakaryocytic thrombocytopenia | 1 | Oct 30, 2023 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 2 | Oct 30, 2023 |
| Congenital factor VII deficiency | 5 | Nov 24, 2023 |
| Congenital heart defects, multiple types, 2 | 1 | Oct 30, 2023 |
| Congenital myasthenic syndrome 4A | 2 | Nov 2, 2023 |
| Congenital myopathy with internal nuclei and atypical cores | 1 | Nov 24, 2023 |
| Congenital myotonia, autosomal dominant form | 1 | Nov 24, 2023 |
| Congenital myotonia, autosomal recessive form | 1 | Oct 30, 2023 |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 | Oct 9, 2023 |
| Cornelia de Lange syndrome 1 | 2 | Nov 2, 2023 |
| Cornelia de Lange syndrome 5 | 1 | Mar 24, 2023 |
| Cutis laxa, autosomal dominant 3 | 1 | Oct 30, 2023 |
| Cyclical neutropenia | 1 | Oct 9, 2023 |
| Cystic fibrosis | 4 | Nov 24, 2023 |
| Deficiency of steroid 11-beta-monooxygenase | 5 | Oct 30, 2023 |
| Deficiency of steroid 17-alpha-monooxygenase | 1 | Nov 24, 2023 |
| Developmental and epileptic encephalopathy 94 | 1 | Nov 2, 2023 |
| Developmental and epileptic encephalopathy 99 | 2 | Nov 24, 2023 |
| Developmental and epileptic encephalopathy, 17 | 1 | Nov 2, 2023 |
| Developmental and epileptic encephalopathy, 24 | 1 | Oct 30, 2023 |
| Developmental and epileptic encephalopathy, 46 | 1 | Oct 9, 2023 |
| Developmental and epileptic encephalopathy, 67 | 1 | Nov 2, 2023 |
| Developmental and epileptic encephalopathy, 69 | 1 | Nov 2, 2023 |
| Developmental and epileptic encephalopathy, 70 | 1 | Nov 2, 2023 |
| Developmental and epileptic encephalopathy, 74 | 1 | Oct 30, 2023 |
| Developmental delay with autism spectrum disorder and gait instability | 1 | Nov 24, 2023 |
| Developmental delay with dysmorphic facies and dental anomalies | 1 | Nov 24, 2023 |
| Developmental delay with or without dysmorphic facies and autism | 1 | Oct 9, 2023 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Nov 24, 2023 |
| Diabetes mellitus, permanent neonatal 2 | 1 | Oct 30, 2023 |
| Dilated cardiomyopathy 1G | 2 | Nov 24, 2023 |
| Dilated cardiomyopathy 1II | 1 | Oct 30, 2023 |
| Dilated cardiomyopathy 1S | 1 | Oct 30, 2023 |
| Dowling-Degos disease 1 | 1 | Oct 9, 2023 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 9 | Nov 24, 2023 |
| Ehlers-Danlos syndrome, arthrochalasia type | 1 | Oct 30, 2023 |
| Ehlers-Danlos syndrome, cardiac valvular type | 2 | Oct 30, 2023 |
| Ehlers-Danlos syndrome, classic type, 1 | 5 | Nov 24, 2023 |
| Ehlers-Danlos syndrome, classic type, 2 | 3 | Nov 24, 2023 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 | Nov 24, 2023 |
| Ehlers-Danlos syndrome, periodontal type 2 | 4 | Nov 24, 2023 |
| Ehlers-Danlos syndrome, type 4 | 1 | Oct 30, 2023 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Oct 30, 2023 |
| Epidermolysis bullosa simplex 1A, generalized severe | 1 | Oct 30, 2023 |
| Epidermolysis bullosa, junctional 4, intermediate | 1 | Oct 9, 2023 |
| Epilepsy, childhood absence, susceptibility to, 6 | 1 | Oct 30, 2023 |
| Epilepsy, familial focal, with variable foci 1 | 3 | Nov 24, 2023 |
| Epilepsy, familial focal, with variable foci 4 | 1 | Oct 30, 2023 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 1 | Nov 2, 2023 |
| Epilepsy, idiopathic generalized, susceptibility to, 16 | 1 | Oct 30, 2023 |
| Episodic ataxia type 5 | 1 | Oct 30, 2023 |
| Epithelial recurrent erosion dystrophy | 1 | Oct 9, 2023 |
| FG syndrome 2 | 1 | Oct 30, 2023 |
| FRAXE | 1 | Oct 30, 2023 |
| Fabry disease | 1 | Nov 2, 2023 |
| Factor V deficiency | 1 | Oct 9, 2023 |
| Factor XIII, A subunit, deficiency of | 3 | Nov 24, 2023 |
| Factor XIII, b subunit, deficiency of | 2 | Oct 30, 2023 |
| Familial Mediterranean fever | 2 | Nov 2, 2023 |
| Familial Mediterranean fever, autosomal dominant | 3 | Nov 2, 2023 |
| Familial adenomatous polyposis 1 | 1 | Oct 30, 2023 |
| Familial adenomatous polyposis 2 | 1 | Oct 9, 2023 |
| Familial adenomatous polyposis 3 | 1 | Oct 9, 2023 |
| Familial cancer of breast | 14 | Nov 24, 2023 |
| Familial dysfibrinogenemia | 2 | Nov 24, 2023 |
| Familial type 5 hyperlipoproteinemia | 1 | Oct 30, 2023 |
| Fasting plasma glucose level quantitative trait locus 5 | 1 | Oct 9, 2023 |
| Fibrochondrogenesis 2 | 1 | Oct 9, 2023 |
| Finnish congenital nephrotic syndrome | 1 | Oct 9, 2023 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 | Nov 2, 2023 |
| Gastrointestinal stromal tumor | 1 | Oct 30, 2023 |
| Generalized dominant dystrophic epidermolysis bullosa | 1 | Oct 30, 2023 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Oct 9, 2023 |
| Ghosal hematodiaphyseal dysplasia | 3 | Nov 24, 2023 |
| Glycogen storage disease IXa1 | 1 | Nov 24, 2023 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 | Oct 30, 2023 |
| Gorlin syndrome | 2 | Oct 9, 2023 |
| Gray platelet syndrome | 11 | Nov 2, 2023 |
| Griscelli syndrome type 2 | 1 | Oct 30, 2023 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Nov 24, 2023 |
| Hearing loss, autosomal dominant 71 | 1 | Nov 2, 2023 |
| Hearing loss, autosomal dominant 74 | 1 | Nov 24, 2023 |
| Hearing loss, autosomal recessive 106 | 3 | Nov 24, 2023 |
| Hearing loss, autosomal recessive 108 | 1 | Oct 9, 2023 |
| Heimler syndrome 1 | 1 | Oct 30, 2023 |
| Hemochromatosis type 1 | 2 | Oct 30, 2023 |
| Hemorrhage, intracerebral, susceptibility to | 1 | Oct 30, 2023 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 1 | Oct 30, 2023 |
| Hereditary antithrombin deficiency | 12 | Nov 24, 2023 |
| Hereditary factor IX deficiency disease | 1 | Nov 24, 2023 |
| Hereditary factor VIII deficiency disease | 3 | Nov 24, 2023 |
| Hereditary factor XI deficiency disease | 6 | Oct 30, 2023 |
| Hereditary leiomyomatosis and renal cell cancer | 1 | Oct 9, 2023 |
| Hereditary pancreatitis | 4 | Nov 24, 2023 |
| Hereditary spastic paraplegia 10 | 1 | Oct 9, 2023 |
| Hereditary spastic paraplegia 11 | 1 | Oct 30, 2023 |
| Hereditary spastic paraplegia 4 | 1 | Nov 24, 2023 |
| Hereditary spastic paraplegia 50 | 1 | Oct 30, 2023 |
| Hereditary spastic paraplegia 7 | 2 | Nov 2, 2023 |
| Hereditary spherocytosis type 2 | 1 | Oct 30, 2023 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2 | Nov 2, 2023 |
| Hermansky-Pudlak syndrome 1 | 2 | Nov 24, 2023 |
| Hermansky-Pudlak syndrome 3 | 3 | Nov 24, 2023 |
| Hermansky-Pudlak syndrome 5 | 1 | Oct 30, 2023 |
| Hermansky-Pudlak syndrome 6 | 3 | Nov 24, 2023 |
| Hermansky-Pudlak syndrome 7 | 1 | Nov 24, 2023 |
| Heterotopia, periventricular, X-linked dominant | 2 | Nov 2, 2023 |
| Hyperalphalipoproteinemia 1 | 1 | Oct 30, 2023 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Oct 30, 2023 |
| Hypercholesterolemia, familial, 1 | 9 | Nov 24, 2023 |
| Hyperlipidemia, familial combined, LPL related | 1 | Nov 2, 2023 |
| Hyperlysinemia | 2 | Oct 30, 2023 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 1 | Oct 30, 2023 |
| Hypertrophic cardiomyopathy 1 | 1 | Oct 9, 2023 |
| Hypertrophic cardiomyopathy 9 | 1 | Oct 30, 2023 |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 1 | Oct 30, 2023 |
| Hypogonadotropic hypogonadism 17 with or without anosmia | 1 | Oct 9, 2023 |
| Hypogonadotropic hypogonadism 24 without anosmia | 1 | Nov 2, 2023 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Oct 30, 2023 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Oct 30, 2023 |
| Hypokalemic periodic paralysis, type 2 | 1 | Nov 24, 2023 |
| Immunodeficiency 60 | 1 | Oct 9, 2023 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Oct 30, 2023 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 | Oct 9, 2023 |
| Intellectual disability, X-linked 1 | 1 | Oct 9, 2023 |
| Intellectual disability, X-linked 104 | 1 | Nov 24, 2023 |
| Intellectual disability, X-linked 107 | 1 | Nov 24, 2023 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Nov 24, 2023 |
| Intellectual disability, autosomal dominant 13 | 1 | Oct 30, 2023 |
| Intellectual disability, autosomal dominant 20 | 1 | Nov 24, 2023 |
| Intellectual disability, autosomal dominant 22 | 2 | Nov 24, 2023 |
| Intellectual disability, autosomal dominant 29 | 3 | Nov 24, 2023 |
| Intellectual disability, autosomal dominant 39 | 1 | Nov 24, 2023 |
| Intellectual disability, autosomal dominant 45 | 1 | Nov 24, 2023 |
| Intellectual disability, autosomal dominant 5 | 2 | Nov 24, 2023 |
| Intellectual disability, autosomal dominant 51 | 1 | Oct 9, 2023 |
| Intellectual disability, autosomal dominant 52 | 1 | Oct 30, 2023 |
| Intellectual disability, autosomal dominant 9 | 1 | Nov 2, 2023 |
| Intellectual disability, autosomal recessive 44 | 1 | Apr 13, 2023 |
| Intellectual disability, autosomal recessive 65 | 2 | Nov 2, 2023 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Nov 2, 2023 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 1 | Oct 9, 2023 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 2 | Nov 24, 2023 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Nov 2, 2023 |
| KBG syndrome | 1 | Oct 9, 2023 |
| Kabuki syndrome 1 | 3 | Nov 24, 2023 |
| King Denborough syndrome | 1 | Oct 9, 2023 |
| Kleefstra syndrome 1 | 1 | Nov 24, 2023 |
| Kleefstra syndrome 2 | 3 | Nov 24, 2023 |
| Koolen-de Vries syndrome | 1 | Nov 2, 2023 |
| Landau-Kleffner syndrome | 2 | Nov 2, 2023 |
| Leber congenital amaurosis 2 | 1 | Nov 24, 2023 |
| Lesch-Nyhan syndrome | 1 | Nov 24, 2023 |
| Li-Fraumeni syndrome 2 | 8 | Nov 24, 2023 |
| Long QT syndrome 1 | 1 | Nov 24, 2023 |
| Long QT syndrome 2 | 1 | Nov 24, 2023 |
| Lynch syndrome 1 | 7 | Nov 24, 2023 |
| Lynch syndrome 4 | 5 | Nov 24, 2023 |
| Lynch syndrome 5 | 6 | Oct 30, 2023 |
| Lynch syndrome 8 | 1 | Oct 30, 2023 |
| MEHMO syndrome | 1 | Nov 2, 2023 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 2 | Oct 30, 2023 |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 | Oct 9, 2023 |
| Malignant hyperthermia, susceptibility to, 1 | 2 | Nov 24, 2023 |
| Marfan syndrome | 4 | Nov 24, 2023 |
| Maturity-onset diabetes of the young type 1 | 1 | Oct 9, 2023 |
| Maturity-onset diabetes of the young type 2 | 2 | Oct 30, 2023 |
| Maturity-onset diabetes of the young type 3 | 1 | Oct 9, 2023 |
| Maturity-onset diabetes of the young type 7 | 1 | Oct 9, 2023 |
| Maturity-onset diabetes of the young type 8 | 1 | Oct 9, 2023 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 1 | Oct 9, 2023 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 | Oct 30, 2023 |
| Menke-Hennekam syndrome 1 | 1 | Oct 9, 2023 |
| Menke-Hennekam syndrome 2 | 1 | Oct 30, 2023 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 1 | Nov 2, 2023 |
| Microcephaly 5, primary, autosomal recessive | 1 | Oct 30, 2023 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Oct 9, 2023 |
| Microcephaly, seizures, and developmental delay | 1 | Oct 9, 2023 |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 2 | Nov 2, 2023 |
| Multiple endocrine neoplasia type 4 | 1 | Oct 9, 2023 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 1 | Oct 9, 2023 |
| Neonatal severe primary hyperparathyroidism | 1 | Oct 30, 2023 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2 | Nov 24, 2023 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | Nov 24, 2023 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Apr 13, 2023 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 1 | Oct 30, 2023 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 1 | Oct 30, 2023 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Nov 24, 2023 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 1 | Nov 24, 2023 |
| Neurofibromatosis, type 1 | 4 | Nov 2, 2023 |
| Neurofibromatosis-Noonan syndrome | 1 | Oct 30, 2023 |
| Neuronal ceroid lipofuscinosis 2 | 1 | Nov 2, 2023 |
| Noonan syndrome 1 | 3 | Nov 2, 2023 |
| Noonan syndrome 4 | 1 | Nov 24, 2023 |
| Noonan syndrome 9 | 1 | Oct 9, 2023 |
| O'Donnell-Luria-Rodan syndrome | 1 | Nov 24, 2023 |
| Ocular albinism, type II | 1 | Oct 9, 2023 |
| Oculopharyngeal muscular dystrophy | 1 | Oct 9, 2023 |
| Okur-Chung neurodevelopmental syndrome | 1 | Nov 2, 2023 |
| Oligodontia-cancer predisposition syndrome | 1 | Nov 24, 2023 |
| Oocyte maturation defect 7 | 1 | Oct 9, 2023 |
| Osteogenesis imperfecta type I | 2 | Oct 9, 2023 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Oct 30, 2023 |
| Ovarian dysgenesis 2 | 1 | Nov 24, 2023 |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 1 | Nov 2, 2023 |
| Pendred syndrome | 1 | Oct 9, 2023 |
| Periventricular nodular heterotopia 9 | 2 | Nov 24, 2023 |
| Peutz-Jeghers syndrome | 2 | Oct 9, 2023 |
| Pfeiffer syndrome | 1 | Oct 30, 2023 |
| Phelan-McDermid syndrome | 1 | Oct 9, 2023 |
| Phenylketonuria | 2 | Oct 30, 2023 |
| Pigmentary retinal dystrophy | 1 | Oct 9, 2023 |
| Pigmented paravenous retinochoroidal atrophy | 1 | Nov 24, 2023 |
| Pitt-Hopkins syndrome | 2 | Nov 24, 2023 |
| Platelet-type bleeding disorder 10 | 2 | Oct 30, 2023 |
| Platelet-type bleeding disorder 15 | 3 | Oct 30, 2023 |
| Platelet-type bleeding disorder 16 | 4 | Nov 24, 2023 |
| Platelet-type bleeding disorder 17 | 1 | Nov 2, 2023 |
| Polycystic kidney disease 2 | 2 | Nov 24, 2023 |
| Polycystic kidney disease 4 | 1 | Oct 30, 2023 |
| Polycystic kidney disease, adult type | 7 | Nov 24, 2023 |
| Polycystic liver disease 3 with or without kidney cysts | 1 | Oct 9, 2023 |
| Porencephaly 2 | 1 | Oct 30, 2023 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 1 | Nov 24, 2023 |
| Premature ovarian failure 16 | 1 | Oct 9, 2023 |
| Premature ovarian failure 2A | 2 | Oct 30, 2023 |
| Premature ovarian failure 5 | 1 | Nov 2, 2023 |
| Primary ciliary dyskinesia 22 | 1 | Oct 9, 2023 |
| Protein Z deficiency | 3 | Nov 24, 2023 |
| Pseudohypoparathyroidism type I A | 1 | Nov 24, 2023 |
| Pyruvate kinase deficiency of red cells | 1 | Oct 30, 2023 |
| Quebec platelet disorder | 1 | Oct 9, 2023 |
| Radial aplasia-thrombocytopenia syndrome | 1 | Oct 30, 2023 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 2 | Nov 24, 2023 |
| Rauch-Steindl syndrome | 1 | Oct 30, 2023 |
| Renpenning syndrome | 1 | Nov 24, 2023 |
| Retinitis pigmentosa 39 | 1 | Oct 30, 2023 |
| Retinitis pigmentosa 48 | 1 | Oct 9, 2023 |
| Rett syndrome | 2 | Nov 2, 2023 |
| SCOTT SYNDROME | 2 | Nov 24, 2023 |
| Schwannomatosis 2 | 1 | Oct 30, 2023 |
| Seizures, benign familial infantile, 3 | 1 | Oct 30, 2023 |
| Seizures, benign familial neonatal, 2 | 1 | Oct 9, 2023 |
| Sessile serrated polyposis cancer syndrome | 2 | Nov 2, 2023 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Nov 2, 2023 |
| Severe myoclonic epilepsy in infancy | 1 | Nov 24, 2023 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 2 | Oct 30, 2023 |
| Sitosterolemia 1 | 3 | Nov 24, 2023 |
| Smith-Magenis syndrome | 1 | Oct 30, 2023 |
| Spermatogenic failure 33 | 1 | Nov 24, 2023 |
| Spermatogenic failure 34 | 1 | Oct 9, 2023 |
| Spermatogenic failure 39 | 1 | Oct 9, 2023 |
| Spermatogenic failure 40 | 3 | Nov 24, 2023 |
| Spermatogenic failure 43 | 1 | Oct 9, 2023 |
| Spermatogenic failure 45 | 1 | Oct 9, 2023 |
| Spermatogenic failure 48 | 1 | Oct 9, 2023 |
| Spermatogenic failure 7 | 2 | Nov 2, 2023 |
| Spermatogenic failure 8 | 1 | Nov 2, 2023 |
| Spermatogenic failure, Y-linked, 2 | 1 | Nov 2, 2023 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 1 | Nov 24, 2023 |
| Spinocerebellar ataxia 47 | 1 | Oct 9, 2023 |
| Spinocerebellar ataxia type 42 | 1 | Oct 30, 2023 |
| Stickler syndrome type 2 | 1 | Nov 24, 2023 |
| Stormorken syndrome | 1 | Oct 30, 2023 |
| Syndromic X-linked intellectual disability Nascimento type | 1 | Apr 13, 2023 |
| TWIST1-related craniosynostosis | 1 | Nov 24, 2023 |
| Tenorio syndrome | 1 | Oct 30, 2023 |
| Thrombocythemia 2 | 1 | Oct 30, 2023 |
| Thrombocytopenia 2 | 7 | Nov 2, 2023 |
| Thrombocytopenia 5 | 1 | Oct 9, 2023 |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | 1 | Nov 24, 2023 |
| Thrombocytopenia, anemia, and myelofibrosis | 1 | Oct 30, 2023 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 3 | Nov 2, 2023 |
| Thrombophilia due to protein C deficiency, autosomal recessive | 1 | Oct 9, 2023 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 3 | Nov 2, 2023 |
| Thrombophilia due to thrombin defect | 1 | Oct 9, 2023 |
| Tibial muscular dystrophy | 1 | Oct 30, 2023 |
| Tooth agenesis, selective, 1 | 1 | Nov 24, 2023 |
| Tooth agenesis, selective, 10 | 1 | Nov 24, 2023 |
| Trichorhinophalangeal dysplasia type I | 1 | Apr 13, 2023 |
| Tuberous sclerosis 2 | 1 | Oct 9, 2023 |
| Tyrosinase-positive oculocutaneous albinism | 2 | Oct 30, 2023 |
| Ullrich congenital muscular dystrophy 1A | 1 | Nov 2, 2023 |
| Usher syndrome type 2A | 1 | Oct 30, 2023 |
| Vas deferens, congenital bilateral aplasia of, X-linked | 2 | Oct 9, 2023 |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | 1 | Oct 30, 2023 |
| Vici syndrome | 1 | Nov 24, 2023 |
| Weiss-kruszka syndrome | 1 | Nov 2, 2023 |
| Wilson disease | 4 | Nov 2, 2023 |
| X-linked Alport syndrome | 1 | Oct 9, 2023 |
| X-linked intellectual disability, Cantagrel type | 1 | Nov 2, 2023 |
| X-linked intellectual disability-short stature-overweight syndrome | 1 | Nov 24, 2023 |
| alpha Thalassemia | 1 | Oct 9, 2023 |
| von Willebrand disease type 1 | 11 | Nov 24, 2023 |
