omimdefinitions

| Fructose intolerance, 229600 (3)
| * 602938 BILE ACID CoA:AMINO ACID N-ACYLTRANSFERASE| BAAT
| Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 (3)
| Fanconi anemia, complementation group C, 227645 (3)
| * 601309 PATCHED, DROSOPHILA, HOMOLOG OF, 1| PTCH1
| Basal cell carcinoma, somatic, 605462 (3)
| Holoprosencephaly-7, 610828 (3)
| Xeroderma pigmentosum, group A, 278700 (3)
| 3-methylglutaconic aciduria, type I, 250950 (3)
| Bone marrow failure syndrome 2, 615715 (3)
| Nephronophthisis 16, 615382 (3)
| Cataract 36, 613887 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)
| Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3)
| Cardiomyopathy, dilated, 1X, 611615 (3)
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3)
| {Hirschsprung disease, susceptibility to, 5} (2)
| Dysautonomia, familial, 223900 (3)
| Nephronophthisis 2, infantile, 602088 (3)
| Panic disorder 2 (2)
| * 186855 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 2| TAL2
| Hypertensive nephropathy (2)
| {Spondyloarthropathy, susceptibility to, 2} (2)
| Muscular dystrophy, limb-girdle, type 2H, 254110 (3)
| * 602290 TRIPARTITE MOTIF-CONTAINING PROTEIN 32| TRIM32
| Congenital heart defects, multiple types, 3 (2)
| {Menarche, age at, QTL3} (2)
| Osteogenesis imperfecta, type XIV, 615066 (3)
| {Scoliosis, idiopathic, susceptibility to, 4} (2)
| Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)
| * 604767 DELETED IN ESOPHAGEAL CANCER 1| DEC1
| {Inflammatory bowel disease 16} (2)
| {Epilepsy, idiopathic generalized, susceptibility to, 3} (2)
| Endotoxin hyporesponsiveness (3)
| {Macular degeneration, age-related, 10}, 611488 (3)
| {Colorectal cancer, susceptibility to}, 114500 (3)
| Deafness, autosomal recessive 31, 607084 (3)
| Usher syndrome, type 2D, 611383 (3)
| {Asthma-related traits, susceptibility to, 8} (2)
| 46XY sex reversal 3, 612965 (3)
| Premature ovarian failure 7, 612964 (3)
| Adrenocortical insufficiency (3)
| Spermatogenic failure 8, 613957 (3)
| Deafness, autosomal dominant 56, 615629 (3)
| Cortical malformations, occipital, 614115 (3)
| Epileptic encephalopathy, early infantile, 5, 613477 (3)
| [Bone mineral density QTL 10] (2)
| Microcephaly 3, primary, autosomal recessive, 604804 (3)
| Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)
| [Blood group, ABO system] (3)
| Thrombotic thrombocytopenic purpura, familial, 274150 (3)
| Porphyria, acute hepatic, 612740 (3)
| * 125270 DELTA-AMINOLEVULINATE DEHYDRATASE| ALAD
| ?Dystonia 23 (2)
| * 609312 DOPAMINE BETA-HYDROXYLASE, PLASMA| DBH
| Dopamine beta-hydroxylase deficiency, 223360 (3)
| Dystonia-1, torsion, 128100 (3)
| * 605204 TORSIN 1A| TOR1A
| {Dystonia-1, modifier of} (3)
| Amyloidosis, Finnish type, 105120 (3)
| Lethal congenital contracture syndrome 1, 253310 (3)
| Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)
| Keratoconus 6 (2)
| Ataxia-ocular apraxia-2, 606002 (3)
| Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
| Ichthyosis prematurity syndrome, 608649 (3)
| Hypophosphatemic rickets with hypercalciuria, 241530 (3)
| * 185620 SURFEIT 1| SURF1
| Tuberous sclerosis-1, 191100 (3)
| Lymphangioleiomyomatosis, 606690 (3)
| Focal cortical dysplasia, Taylor balloon cell type, 607341 (3)
| Spinocerebellar ataxia, autosomal recessive 2 (2)
| * 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1| ABL1
| Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
| Citrullinemia, 215700 (3)
| C5 deficiency, 609536 (3)
| Eculizumab, poor response to, 615749 (3)
| {Leukemia, chronic lymphocytic, susceptibility to, 3} (2)
| * 600184 CARNITINE ACETYLTRANSFERASE| CRAT
| Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
| ?Stomatocytosis I, 185000 (1)
| Nail-patella syndrome, 161200 (3)
| * 114350 NUCLEOPORIN, 214-KD| NUP214
| Leukemia, T-cell acute lymphoblastic (3)
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
| Epileptic encephalopathy, early infantile, 4, 612164 (2)
| Congenital disorder of glycosylation, type Iu, 615042 (3)
| [Bone mineral density QTL 15], 613418 (3)
| Congenital disorder of glycosylation, type Im, 610768 (3)
| Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
| {Alkaline phosphatase, plasma level of, QTL1} (2)
| Bleeding disorder, platelet-type, 17, 187900 (3)
| Agammaglobulinemia 5, 613506 (3)
| Geleophysic dysplasia 1, 231050 (3)
| [Sarcosinemia], 268900 (3)
| Ehlers-Danlos syndrome, type II, 130010 (3)
| * 120215 COLLAGEN, TYPE V, ALPHA-1| COL5A1
| Lipodystrophy, congenital generalized, type 1, 608594 (3)

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