omimdefinitions

| Retinal degeneration, late-onset, autosomal dominant, 605670 (3)
| Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3)
| Nephronophthisis 15, 614845 (3)
| Congenital disorder of glycosylation, type Ij, 608093 (3)
| Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 (3)
| High density lipoprotein cholesterol level QTL14 (2)
| Porphyria, acute intermittent, 176000 (3)
| * 609806 HYDROXYMETHYLBILANE SYNTHASE| HMBS
| Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
| Lathosterolosis, 607330 (3)
| Brugada syndrome 7, 613120 (3)
| ?Congenital disorder of glycosylation, type Iw, 615596 (3)
| Aortic aneurysm, familial thoracic 1 (2)
| Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)
| Bartter syndrome, type 2, 241200 (3)
| Long QT syndrome 13, 613485 (3)
| Hyperaldosteronism, familial, type III, 613677 (3)
| {Migraine with aura, susceptibility to, 9} (2)
| Nephropathy, progressive, with deafness (2)
| {Autoimmune disease, susceptibility to, 6}, 613551 (3)
| Aneurysm, intracranial berry, 7 (2)
| Ichthyosis, congenital, autosomal recessive 11, 602400 (3)
| {Leukemia, chronic lymphocytic susceptibility to, 5} (2)
| Congenital short bowel syndrome, 615237 (3)
| Holoprosencephaly 11, 614226 (3)
| * 613622 FAD-DEPENDENT OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1| FOXRED1
| Mitochondrial complex I deficiency, 252010 (3)
| Hydrolethalus syndrome, 236680 (3)
| Mental retardation, autosomal dominant 4, 612581 (3)
| Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)
| Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
| Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)
| * 600632 OPIOID-BINDING PROTEIN/CELL ADHESION MOLECULE-LIKE| OPCML
| Deafness, autosomal recessive 20 (2)
| Acromegaloid features, overgrowth, cleft palate, and hernia (2)
| Dentatorubro-pallidoluysian atrophy, 125370 (3)
| OKT4 epitope deficiency, 613949 (3)
| ?Epileptic encephalopathy, early infantile, 21, 615833 (3)
| ?Microcephaly 11, primary, autosomal recessive, 615414 (3)
| Spastic ataxia 1, autosomal dominant, 108600 (3)
| Timothy syndrome, 601005 (3)
| Brugada syndrome 3, 611875 (3)
| Retinal cone dystrophy 4, 610478 (3)
| Hypophosphatemic rickets, autosomal dominant, 193100 (3)
| * 605380 FIBROBLAST GROWTH FACTOR 23| FGF23
| Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)
| {Major affective disorder-9, susceptibility to} (2)
| Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3)
| Peroxisome biogenesis disorder 2B, 202370 (3)
| von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
| von Willebrand disease, type 1, 193400 (3)
| von Willibrand disease, type 3, 277480 (3)
| Alpha-2-macroglobulin deficiency, 614036 (1)
| * 103950 ALPHA-2-MACROGLOBULIN| A2M
| {Coronary artery disease, autosomal dominant, 2}, 610947 (3)
| Periodic fever, familial, 142680 (3)
| {Multiple sclerosis, susceptibility to, 5}, 614810 (3)
| Candidiasis, familial, 4, autosomal recessive, 613108 (3)
| {Aspergillosis, susceptibility to}, 614079 (3)
| Deafness, autosomal recessive 62 (2)
| {Inflammatory bowel disease 2} (2)
| Klippel-Feil syndrome 3, autosomal dominant, 613702 (3)
| * 606522 GROWTH/DIFFERENTIATION FACTOR 3| GDF3
| Microphthalmia, isolated 7, 613704 (3)
| Keutel syndrome, 245150 (3)
| * 154870 MATRIX GAMMA-CARBOXYGLUTAMIC ACID| MGP
| Immunodeficiency with hyper-IgM, type 2, 605258 (3)
| C1r/C1s deficiency, combined, 216950 (1)
| C1s deficiency, 613783 (3)
| Temtamy syndrome, 218340 (3)
| Multiple endocrine neoplasia, type IV, 610755 (3)
| Ehlers-Danlos syndrome, type VIII (2)
| Bowen-Conradi syndrome, 211180 (3)
| * 600618 ETS VARIANT GENE 6| ETV6
| * 139130 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3| GNB3
| Episodic ataxia/myokymia syndrome, 160120 (3)
| Atrial fibrillation, familial, 7, 612240 (3)
| Retinal cone dystrophy 3, 610024 (3)
| * 601190 PHOSPHODIESTERASE 6H, cGMP-SPECIFIC, CONE, GAMMA| PDE6H
| Pseudohypoaldosteronism, type I, 264350 (3)
| Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)
| Lymphoproliferative syndrome 2, 615122 (3)
| Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)
| Pseudohypoaldosteronism, type IIC, 614492 (3)
| Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
| [Blood group, Dombrock] (3)
| * 602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1| OLR1
| Nephrotic syndrome, type 6, 614196 (3)
| Glycogen storage disease 0, liver, 240600 (3)
| Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
| {Hypertension, essential, susceptibility to, 4}, 145500 (2)
| Lactate dehydrogenase-B deficiency, 614128 (3)
| Hypertension with brachydactyly (2)
| Cardiomyopathy, dilated, 1O, 608569 (3)
| Atrial fibrillation, familial, 12, 614050 (3)
| Hypertrichotic osteochondrodysplasia, 239850 (3)
| * 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG| KRAS
| Bladder cancer, somatic, 109800 (3)
| Pancreatic carcinoma, somatic, 260350 (3)

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