omimdefinitions

| * 156570 5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE| MTR
| Chromosome 1q43-q44 deletion syndrome (4)
| Deafness, autosomal recessive 45 (2)
| Senior-Loken syndrome 7, 613615 (3)
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387 (3)
| Mitochondrial complex IV deficiency, 220110 (3)
| Cold-induced autoinflammatory syndrome, familial, 120100 (3)
| Muckle-Wells syndrome, 191900 (3)
| CINCA syndrome, 607115 (3)
| * 608433 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 18| ZBTB18
| Spermatogenic failure 2 (2)
| Cataract 29, coralliform (2)
| 3MC syndrome 2, 265050 (3)
| Deafness, neurosensory, autosomal recessive 47 (2)
| Inflammatory skin and bowel disease, neonatal, 614328 (3)
| Maturity-onset diabetes of the young, type VII, 610508 (3)
| * 165640 ORNITHINE DECARBOXYLASE 1| ODC1
| Preeclampsia/eclampsia 2 (2)
| Diamond-Blackfan anemia 8, 612563 (3)
| Mental retardation, autosomal dominant, 27, 615866 (3)
| Thyroid dyshormonogenesis 2A, 274500 (3)
| Tremor, hereditary essential, 2 (2)
| {Hypertension, essential, susceptibility to, 3}, 145500 (2)
| ?Keratoderma, palmoplantar, punctate type 3 (2)
| Feingold syndrome, 164280 (3)
| Cranioectodermal dysplasia 2, 613610 (3)
| Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)
| Retinitis pigmentosa 58, 613617 (3)
| Retinitis pigmentosa 54, 613428 (3)
| Hypobetalipoproteinemia, 615558 (3)
| Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)
| [Cholesterol level QTL 2] (2)
| Epilepsy, generalized, with febrile seizures plus, type 4 (2)
| Keratoconus 4 (2)
| Epiphyseal dysplasia, multiple, 5, 607078 (3)
| {Osteoarthritis susceptibility 2}, 140600 (3)
| Spondyloepimetaphyseal dysplasia, 608728 (3)
| Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
| Ciliary dyskinesia, primary, 21, 615294 (3)
| * 606687 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4| EIF2B4
| Ovarioleukodystrophy, 603896 (3)
| Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)
| Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
| * 176830 PROOPIOMELANOCORTIN| POMC
| [Fasting plasma glucose level QTL 5], 613463 (3)
| [Fructosuria], 229800 (3)
| Fibromatosis, gingival, 3 (2)
| {Neuroblastoma, susceptibility to, 3}, 613014 (3)
| Tatton-Brown-Rahman syndrome, 615879 (3)
| LCHAD deficiency, 609016 (3)
| Trifunctional protein deficiency, 609015 (3)
| * 600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,
| Fatty liver, acute, of pregnancy, 609016 (3)
| * 143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,
| Pulmonary hypertension, primary, 4, 615344 (3)
| Pseudovaginal perineoscrotal hypospadias, 264600 (3)
| Deafness, autosomal recessive 9, 601071 (3)
| * 603681 OTOFERLIN| OTOF
| Xanthinuria, type I, 278300 (3)
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
| Candidiasis, familial, 1, autosomal dominant (2)
| Hyperuricemic nephropathy, familial juvenile, 3 (2)
| Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
| Peters anomaly, 604229 (3)
| Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3)
| Muir-Torre syndrome, 158320 (3)
| Mismatch repair cancer syndrome, 276300 (3)
| Fibromatosis, gingival, 135300 (3)
| Noonan syndrome 4, 610733 (3)
| Spastic paraplegia 4, autosomal dominant, 182601 (3)
| Sitosterolemia, 210250 (3)
| * 605460 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8| ABCG8
| Gallbladder disease 4, 611465 (3)
| Short stature with microcephaly and distinctive facies, 615789 (3)
| Hypotonia-cystinuria syndrome (4)
| Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
| Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3)
| [Leptin serum levels QTL1] (2)
| Precocious puberty, male, 176410 (3)
| Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3)
| * 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR| LHCGR
| Luteinizing hormone resistance, female, 238320 (3)
| Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)
| Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
| Holoprosencephaly-2, 157170 (3)
| Schizencephaly, 269160 (3)
| Intestinal atresia, multiple, 243150 (3)
| Factor V and factor VIII, combined deficiency of, 613625 (3)
| Erythrocytosis, familial, 4, 611783 (3)
| Ovarian dysgenesis 1, 233300 (3)
| Ovarian response to FSH stimulation, 276400 (3)
| Ovarian hyperstimulation syndrome, 608115 (3)
| Leigh syndrome, French-Canadian type, 220111 (3)
| Spinocerebellar ataxia 25 (2)
| Deafness, autosomal dominant 58 (2)
| Pitt-Hopkins-like syndrome 2, 614325 (3)
| {Schizophrenia, susceptibility to, 17}, 614332 (3)
| Cystinuria, 220100 (3)
| Fanconi anemia, complementation group L, 614083 (3)
| Combined oxidative phosphorylation deficiency 13, 614932 (3)

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