omimdefinitions

| Cataract 8, multiple types (2)
| * 172430 ENOLASE 1| ENO1
| HMG-CoA lyase deficiency, 246450 (3)
| Myasthenic syndrome, congenital, with pre- and postsynaptic defects, 615120 (3)
| {Obesity, association with}, 601665 (3)
| Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3)
| Peroxisome biogenesis disorder 6B, 614871 (3)
| Dystonia 13, torsion (2)
| Kondoh syndrome (2)
| Deafness, autosomal recessive 96 (2)
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)
| Ehlers-Danlos syndrome, progeroid type, 2, 615349 (3)
| {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3)
| * 137163 GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA| GABRD
| {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3)
| Homocystinuria due to MTHFR deficiency, 236250 (3)
| {Schizophrenia, susceptibility to}, 181500 (3)
| * 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE| MTHFR
| {Neural tube defects, susceptibility to}, 601634 (3)
| {Thromboembolism, susceptibility to}, 188050 (3)
| Left ventricular noncompaction 8, 615373 (3)
| * 605557 PR DOMAIN-CONTAINING PROTEIN 16| PRDM16
| Shprintzen-Goldberg syndrome, 182212 (3)
| Corneal dystrophy, Schnyder type, 121800 (3)
| MASP2 deficiency, 613791 (3)
| Ehlers-Danlos syndrome, type VI, 225400 (3)
| Deafness, autosomal recessive 36, 609006 (3)
| * 606351 ESPIN, MOUSE, HOMOLOG OF| ESPN
| C1q deficiency, 613652 (3)
| * 120570 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, B CHAIN| C1QB
| * 120575 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, C CHAIN| C1QC
| Leber congenital amaurosis 9, 608553 (3)
| {Pancreatitis, chronic, susceptibility to}, 167800 (3)
| Gallbladder disease 2 (2)
| Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
| Pheochromocytoma, 171300 (3)
| {Neuroblastoma, susceptibility to, 1}, 256700 (3)
| Charcot-Marie-Tooth disease, type 2A2, 609260 (3)
| Hereditary motor and sensory neuropathy VI, 601152 (3)
| Atrial fibrillation, familial, 6, 612201 (3)
| Atrial standstill 2, 615745 (3)
| Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3)
| Immunodeficiency 14, 615513 (3)
| {Schizophrenia 12}, 181500 (2)
| Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3)
| * 605078 TAR DNA-BINDING PROTEIN| TARDBP
| Rhabdomyosarcoma 2, alveolar, 268220 (3)
| Glaucoma 3, primary infantile, B (2)
| Elliptocytosis-1, 611804 (3)
| [Blood group, Rhesus], 111690 (3)
| Rh-null disease, amorph type (3)
| * 111680 RHESUS BLOOD GROUP, D ANTIGEN| RHD
| {Rheumatoid arthritis, susceptibility to}, 180300 (3)
| Aneurysm, intracranial berry, 3 (2)
| {Vitamin B6 plasma level QTL 1} (2)
| Seizures, benign familial infantile, 4 (2)
| Xia-Gibbs syndrome, 615829 (3)
| Retinitis pigmentosa 59, 613861 (3)
| Immunodeficiency due to ficolin 3 deficiency, 613860 (3)
| Van der Woude syndrome 2, 606713 (3)
| Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)
| Zinc deficiency, transient neonatal, 608118 (3)
| ?Congenital disorder of glycosylation, type Ir, 614507 (3)
| Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
| {Hypertension, essential, susceptibility to}, 145500 (3)
| Cataract 6, multiple types, 116600 (3)
| Schwartz-Jampel syndrome, type 1, 255800 (3)
| Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3)
| * 604630 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 2| NR0B2
| Prostate cancer, progression and metastasis of, 603688 (3)
| Diamond-Blackfan anemia 7, 612562 (3)
| Paragangliomas 4, 115310 (3)
| * 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN| SDHB
| Paraganglioma and gastric stromal sarcoma, 606864 (3)
| Cowden syndrome 2, 612359 (3)
| Gastrointestinal stromal tumor, 606764 (3)
| Hypophosphatasia, infantile, 241500 (3)
| Hypophosphatasia, childhood, 241510 (3)
| Odontohypophosphatasia, 146300 (3)
| * 171760 ALKALINE PHOSPHATASE, LIVER| ALPL
| Hyperprolinemia, type II, 239510 (3)
| {Alkaline phosphatase, plasma level of, QTL 2} (2)
| Kufor-Rakeb syndrome, 606693 (3)
| * 610513 ATPase, TYPE 13A2| ATP13A2
| {Basal cell carcinoma, susceptibility to, 1} (2)
| [Bone mineral density QTL 3] (2)
| Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3)
| Bartter syndrome, type 4b, digenic, 613090 (3)
| Bartter syndrome, type 3, 607364 (3)
| * 602023 CHLORIDE CHANNEL, KIDNEY, B| CLCNKB
| {Melanoma, cutaneous malignant, 1} (2)
| Chromosome 1p36 deletion syndrome (4)
| Parkinson disease 7, autosomal recessive early-onset, 606324 (3)
| Cortisone reductase deficiency 1, 604931 (3)
| {Inflammatory bowel disease 7} (2)
| {Multiple sclerosis, susceptibility to, 4} (2)
| Myopia 14 (2)
| Nephronophthisis 4, 606966 (3)
| Senior-Loken syndrome 4, 606996 (3)
| Parkinson disease 6, early onset, 605909 (3)

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