| Autosomal recessive cutis laxa type 2D | 1 | Nov 8, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 | Nov 7, 2023 |
| BAP1-related tumor predisposition syndrome | 1 | Jan 31, 2024 |
| Basal cell carcinoma, susceptibility to, 1 | 1 | Nov 6, 2023 |
| Benign recurrent intrahepatic cholestasis type 2 | 1 | Apr 9, 2024 |
| Beta-thalassemia HBB/LCRB | 1 | Nov 7, 2023 |
| Body mass index quantitative trait locus 12 | 1 | Nov 17, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 2 | Nov 16, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 2 | Nov 13, 2023 |
| Bronchiectasis with or without elevated sweat chloride 1 | 2 | Nov 7, 2023 |
| Brooke-Spiegler syndrome | 1 | Mar 27, 2024 |
| CHARGE association | 1 | Nov 13, 2023 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Apr 9, 2024 |
| Charcot-Marie-Tooth disease type 4C | 1 | May 3, 2023 |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 | Nov 6, 2023 |
| Colorectal cancer | 1 | Jan 8, 2024 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Feb 2, 2024 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 2 | Nov 7, 2023 |
| Cystic fibrosis | 2 | Nov 7, 2023 |
| Diabetes mellitus, permanent neonatal 3 | 1 | Nov 16, 2023 |
| Dominant beta-thalassemia | 1 | Nov 7, 2023 |
| Elliptocytosis 2 | 1 | Nov 13, 2023 |
| Endometrial carcinoma | 1 | Nov 14, 2023 |
| Epileptic encephalopathy, infantile or early childhood, 3 | 1 | Nov 8, 2023 |
| Erythrocytosis, familial, 6 | 1 | Nov 7, 2023 |
| Familial adenomatous polyposis 1 | 1 | Jan 8, 2024 |
| Familial adenomatous polyposis 2 | 1 | Apr 11, 2024 |
| Familial amyloid nephropathy with urticaria AND deafness | 1 | Nov 6, 2023 |
| Familial cancer of breast | 3 | Apr 9, 2024 |
| Familial cold autoinflammatory syndrome 1 | 1 | Nov 6, 2023 |
| Familial cylindromatosis | 1 | Mar 27, 2024 |
| Familial medullary thyroid carcinoma | 1 | Jan 26, 2024 |
| Fanconi anemia complementation group D1 | 1 | Nov 13, 2023 |
| Fanconi anemia, complementation group S | 2 | Nov 16, 2023 |
| Gastric cancer | 1 | Apr 11, 2024 |
| Glioma susceptibility 3 | 1 | Nov 13, 2023 |
| Gorlin syndrome | 1 | Nov 6, 2023 |
| Greig cephalopolysyndactyly syndrome | 1 | Apr 2, 2024 |
| Hb SS disease | 1 | Nov 7, 2023 |
| Hearing loss, autosomal dominant 34, with or without inflammation | 1 | Nov 6, 2023 |
| Heinz body anemia | 1 | Nov 7, 2023 |
| Hereditary pancreatitis | 2 | Nov 7, 2023 |
| Hereditary persistence of fetal hemoglobin | 1 | Nov 7, 2023 |
| Hirschsprung disease, susceptibility to, 1 | 1 | Jan 26, 2024 |
| Holoprosencephaly 7 | 1 | Nov 6, 2023 |
| Hypercholanemia, familial, 2 | 2 | Nov 7, 2023 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Nov 16, 2023 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 1 | Jul 3, 2023 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Nov 13, 2023 |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 | Sep 8, 2023 |
| Intellectual disability, autosomal dominant 6 | 1 | Nov 16, 2023 |
| Intellectual disability, autosomal recessive 13 | 1 | Nov 16, 2023 |
| KBG syndrome | 1 | Nov 16, 2023 |
| Keratitis fugax hereditaria | 1 | Nov 6, 2023 |
| Kury-Isidor syndrome | 1 | Jan 31, 2024 |
| Larsen syndrome | 1 | Apr 3, 2024 |
| Leucine-induced hypoglycemia | 1 | Nov 16, 2023 |
| Li-Fraumeni syndrome 1 | 1 | Nov 8, 2023 |
| Lynch syndrome 5 | 1 | Nov 14, 2023 |
| Malaria, susceptibility to | 1 | Nov 7, 2023 |
| Malignant tumor of prostate | 1 | Nov 13, 2023 |
| Marfan syndrome | 1 | Apr 3, 2024 |
| Medulloblastoma | 1 | Nov 13, 2023 |
| Melanoma, uveal, susceptibility to, 2 | 1 | Jan 31, 2024 |
| Methemoglobinemia, beta-globin type | 1 | Nov 7, 2023 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Nov 7, 2023 |
| Mitochondrial DNA depletion syndrome 4b | 1 | Jan 31, 2024 |
| Obesity due to prohormone convertase I deficiency | 1 | Nov 17, 2023 |
| Okur-Chung neurodevelopmental syndrome | 1 | Nov 16, 2023 |
| Pallister-Hall syndrome | 1 | Apr 2, 2024 |
| Pancreatic cancer, susceptibility to, 2 | 1 | Nov 13, 2023 |
| Pancreatic cancer, susceptibility to, 4 | 2 | Nov 16, 2023 |
| Pigmentary pallidal degeneration | 1 | Sep 8, 2023 |
| Polydactyly, postaxial, type A1 | 1 | Apr 2, 2024 |
| Polysyndactyly 4 | 1 | Apr 2, 2024 |
| Premature ovarian failure 10 | 1 | Nov 7, 2023 |
| Premature ovarian failure 3 | 1 | Nov 13, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Jan 31, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 | Jan 31, 2024 |
| Progressive familial intrahepatic cholestasis type 2 | 1 | Apr 9, 2024 |
| Progressive sclerosing poliodystrophy | 1 | Jan 31, 2024 |
| Pulmonary hypertension, primary, 1 | 1 | Nov 6, 2023 |
| Pulmonary venoocclusive disease 1 | 1 | Nov 6, 2023 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 | Jan 31, 2024 |
| Stiff skin syndrome | 1 | Apr 2, 2024 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Apr 9, 2024 |
| Trichoepithelioma, multiple familial, 1 | 1 | Mar 27, 2024 |
| Type 2 diabetes mellitus | 1 | Nov 16, 2023 |
| Wilms tumor 1 | 3 | Nov 13, 2023 |
| von Willebrand disease type 1 | 1 | Nov 16, 2023 |
| von Willebrand disease type 2 | 1 | Nov 16, 2023 |
| von Willebrand disease type 3 | 1 | Nov 16, 2023 |
