omimdefinitions

| Anisomastia (2)
| Carboxylesterase 1 deficiency (3)
| Episodic kinesigenic dyskinesia 2 (2)
| * 606151 BBS2 GENE| BBS2
| Spinocerebellar ataxia 31, 117210 (3)
| Hyperalphalipoproteinemia, 143470 (3)
| * 118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA| CETP
| Cataract 5, multiple types, 116800 (3)
| Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3)
| Myoclonus, familial cortical, 614937 (3)
| Spinocerebellar ataxia, autosomal recessive 12 (2)
| Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3)
| * 602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF| AGRP
| {Leanness, inherited} (3)
| Aneurysmal bone cysts (2)
| Atrial fibrillation, familial, 8 (2)
| Chromosome 16q22 deletion syndrome (4)
| * 121360 CORE-BINDING FACTOR, BETA SUBUNIT| CBFB
| Macular corneal dystrophy, 217800 (3)
| Cirrhosis, North American Indian childhood type, 604901 (3)
| Miller syndrome, 263750 (3)
| Apparent mineralocorticoid excess, 218030 (3)
| Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
| Cataract, pulverulent or cerulean, with or without microcornea, 610202 (3)
| * 192090 CADHERIN 1| CDH1
| Ovarian carcinoma, somatic, 167000 (3)
| {Breast cancer, lobular}, 114480 (3)
| Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3)
| {Prostate cancer, susceptibility to}, 176807 (3)
| Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)
| Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
| Congenital disorder of glycosylation, type IIj, 613489 (3)
| Congenital disorder of glycosylation, type IIh, 611182 (3)
| {Colorectal cancer, susceptibility to, 9} (2)
| Mental retardation, autosomal dominant 21, 615502 (3)
| [Anhaptoglobinemia], 614081 (3)
| * 140100 HAPTOGLOBIN| HP
| Norum disease, 245900 (3)
| Fish-eye disease, 136120 (3)
| {Benzene toxicity, susceptibility to} (3)
| {Leukemia, post-chemotherapy, susceptibility to} (3)
| {Breast cancer, poor survival after chemotherapy for} (3)
| Spinocerebellar ataxia 4 (2)
| Tyrosinemia, type II, 276600 (3)
| {Otosclerosis 4} (2)
| Ciliary dyskinesia, primary, 5, 608647 (3)
| Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3)
| Deafness, autosomal recessive 89, 613916 (3)
| Keratoconus 2 (2)
| * 104155 ZINC FINGER HOMEOBOX 3| ZFHX3
| Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
| [Bone mineral density QTL 13] (2)
| Spastic paraplegia 35, autosomal recessive, 612319 (3)
| {Hirschsprung disease, susceptibility to, 8} (2)
| Joubert syndrome 20, 614970 (3)
| Meckel syndrome, type 11, 615397 (3)
| Foveal hypoplasia and anterior segment dysgenesis (2)
| {Adiponectin, serum level of, QTL5] (2)
| * 615585 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 8| SLC38A8
| * 605131 WW DOMAIN-CONTAINING OXIDOREDUCTASE| WWOX
| Spinocrebellar ataxia, autosomal recessive 12, 614322 (3)
| Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
| Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3)
| * 238330 GLYCINE CLEAVAGE SYSTEM H PROTEIN| GCSH
| Malonyl-CoA decarboxylase deficiency, 248360 (3)
| {Stature QTL 22} (2)
| Brittle cornea syndrome, 229200 (3)
| Giant axonal neuropathy-1, 256850 (3)
| {High density lipoprotein cholesterol, low serum, 3} (2)
| Monocyte and dendritic cell deficiency, recessive, 614894 (3)
| CD11C+/CD1C+ dendritic cell deficiency, dominant, 614893 (3)
| Ciliary dyskinesia, primary, 13, 613193 (3)
| Familial cold autoinflammatory syndrome 3, 614468 (3)
| Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
| Porokeratosis 7 (2)
| Combined malonic and methylmalonic aciduria, 614265 (3)
| KBG syndrome, 148050 (3)
| Adenine phosphoribosyltransferase deficiency, 614723 (3)
| Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3)
| Mental retardation, autosomal dominant 3, 612580 (3)
| Meier-Gorlin syndrome 4, 613804 (3)
| Pontocerebellar hypoplasia, type 8, 614961 (3)
| Fanconi anemia, complementation group A, 227650 (3)
| Lymphedema-distichiasis syndrome, 153400 (3)
| * 602402 FORKHEAD BOX C2| FOXC2
| Mucopolysaccharidosis IVA, 253000 (3)
| Pyloric stenosis, infantile hypertrophic, 5 (2)
| Huntington disease-like 2, 606438 (3)
| [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3)
| * 155555 MELANOCORTIN 1 RECEPTOR| MC1R
| [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3)
| {UV-induced skin damage}, 266300 (3)
| {Albinism, oculocutaneous, type II, modifier of}, 203200 (3)
| {Melanoma, cutaneous malignant, 5}, 613099 (3)
| Spastic paraplegia 7, autosomal recessive, 607259 (3)
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
| Fibrosis of extraocular muscles, congenital, 3A, 600638 (3)
| Cortical dysplasia, complex, with other brain malformations 1, 614039 (3)
| Canavan disease, 271900 (3)
| Glycogen storage disease XIII, 612932 (3)

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