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 |
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 |
CHARGE association | 1 | Nov 13, 2023 |
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 amyloid nephropathy with urticaria AND deafness | 1 | Nov 6, 2023 |
Familial cancer of breast | 2 | Jan 15, 2024 |
Familial cold autoinflammatory syndrome 1 | 1 | Nov 6, 2023 |
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 |
Glioma susceptibility 3 | 1 | Nov 13, 2023 |
Gorlin syndrome | 1 | Nov 6, 2023 |
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 |
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 |
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 |
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 |
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 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 |
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 |