OMIM Browser
List of OMIM terms
| No | TI | TX | # of AVs | # of IMS |
| 100050 | 100050 AARSKOG SYNDROME | Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested (see 30.. | 0 | 0 |
| 100070 | %100070 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1;;AAA1;; ANEURYSM, ABDOMINAL AORTIC; AAA;; ABDOMINAL AORTIC ANEURYSM | Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation. One locus for abdominal aortic aneurysm-1 (AAA1) maps to chromosome 19q1.. | 0 | 4 |
| 100100 | 100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM;;PRUNE BELLY SYNDROME;; EAGLE-BARRETT SYNDROME | CLINICAL FEATURES This condition was first described by Frolich (1839). The appellation 'prune belly syndrome' is descriptive because the intestinal pattern is evident through the thin, lax, protruding abdominal wall in the infant (Osler, 1901). (Osler di.. | 0 | 0 |
| 100200 | 100200 ABDUCENS PALSY | This is a form of hereditary strabismus. Affected persons in 2 or more generations have been reported (Chavasse, 1938; Francois, 1961). Nuclear aplasia has been found in some cases (Phillips et al., 1932). Abducens palsy also occurs as part of the Moebius.. | 0 | 0 |
| 100300 | %100300 ADAMS-OLIVER SYNDROME; AOS;;ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL;; CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES;; APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDED | DESCRIPTION Adams-Oliver syndrome (AOS) is a condition characterized by the congenital absence of skin, known as 'aplasia cutis congenita,' usually limited to the scalp vertex, and transverse limb defects. The clinical features are highly variable and can.. | 0 | 0 |
| 100500 | ^100500 MOVED TO 200150 | This entry was incorporated into 200150 on March 2, 2004. | 0 | 0 |
| 100600 | %100600 ACANTHOSIS NIGRICANS | CLINICAL FEATURES Acanthosis nigricans consists of thickening and hyperpigmentation of the skin of the entire body but especially in flexural areas. In an affected mother and daughter reported by Tasjian and Jarratt (1984), skin lesions were first noted i.. | 0 | 0 |
| 100640 | *100640 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A1; ALDH1A1;;ALDEHYDE DEHYDROGENASE 1; ALDH1;; ACETALDEHYDE DEHYDROGENASE 1;; ALDH, LIVER CYTOSOLIC;; RETINAL DEHYDROGENASE 1; RALDH1 | DESCRIPTION The ALDH1A1 gene encodes a liver cytosolic isoform of acetaldehyde dehydrogenase (EC 1.2.1.3), an enzyme involved in the major pathway of alcohol metabolism after alcohol dehydrogenase (ADH, see 103700). See also liver mitochondrial ALDH2 (100.. | 0 | 0 |
| 100650 | +100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2;;ALDEHYDE DEHYDROGENASE 2;; ALDH, LIVER MITOCHONDRIAL;; ACETALDEHYDE DEHYDROGENASE 2 SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO, INCLUDED;; ALDH2/HMGIC FUSION GENE, INCLUDED | DESCRIPTION Acetaldehyde dehydrogenase (EC 1.2.1.3) is the next enzyme after alcohol dehydrogenase (see 103700) in the major pathway of alcohol metabolism. There are 2 major ALDH isozymes in the liver: cytosolic ALDH1 (ALDH1A1; 100640) and mitochondrial A.. | 1 | 2 |
| 100660 | *100660 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 1; ALDH3A1;;ALDEHYDE DEHYDROGENASE 3; ALDH3;; ACETALDEHYDE DEHYDROGENASE 3;; ALDH, STOMACH TYPE | See 100640. In stomach tissue, Teng (1981) described an isozymic form of aldehyde dehydrogenase (ALDH). It did not use formaldehyde, acetaldehyde, or pyruvic aldehyde. Furfuraldehyde and, to a lesser extent, propionaldehyde were readily oxidized. Teng (19.. | 0 | 0 |
| 100670 | *100670 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER B1; ALDH1B1;;ALDEHYDE DEHYDROGENASE 5; ALDH5;; ACETALDEHYDE DEHYDROGENASE 5 | CLONING The 2 aldehyde dehydrogenase isozymes that play a major role in ethanol detoxification, ALDH1 (100640) and ALDH2 (100650), are cytosolic and mitochondrial forms, respectively. Their organization is basically similar; their sizes are 53 kb and 44 k.. | 0 | 0 |
| 100675 | 100675 ACETAMINOPHEN METABOLISM | Acetaminophen (paracetamol) is extensively conjugated with glucuronic acid and sulfate before renal excretion. A minor metabolic route involves microsomal oxidation of acetaminophen to a hepatotoxic reactive intermediate, which subsequently undergoes glut.. | 0 | 0 |
| 100678 | +100678 ACETYL-CoA ACETYLTRANSFERASE 2; ACAT2;;ACETOCOENZYME A ACETYLTRANSFERASE 2;; ACETOACETYL-CoA THIOLASE, CYTOSOLIC ACAT2 DEFICIENCY, INCLUDED | The ACAT2 gene encodes cytosolic acetoacetyl-CoA thiolase (EC 2.3.1.9). Mitochondrial acetoacetyl-CoA thiolase is encoded by the ACAT1 gene (607809). CLONING Song et al. (1994) cloned an ACAT2 cDNA by use of an antibody against the human enzyme. The d.. | 0 | 0 |
| 100680 | 100680 ACETYLCHOLINESTERASE EXPRESSION; ACEE;;REGULATOR OF ACETYLCHOLINESTERASE; RACH | Chen et al. (1978) studied three strains of human fibroblasts that were trisomic for chromosome 2 and had an average level of ACE over 28 times higher than the average fibroblasts. The mean pseudocholinesterase level of the trisomy-2 strains was normal. T.. | 0 | 0 |
| 100690 | *100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1;;CHRNA;; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT; ACHRA | DESCRIPTION The acetylcholine receptor of muscle, like the nicotinic acetylcholine receptor of the Torpedo electric organ, has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma, and delta subunits. In the electric organ the subunits show .. | 14 | 15 |
There are total 20851 items. /
This page number is 1 of 1391
