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OMIMOnline Mendelian Inheritance in Man
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Prader-Willi syndrome (OMIM 176270) and Angelman syndrome (OMIM 105830) are associated with loss of the chromosomal region, 15q11-13.
The most common defects are tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, ventricular septal defects, and aortic arch anomalies (OMIM, n.d.).
RID ile giden sendromlar, LMD (London Medical Database) ve OMIM (Online Mendelian Inheritance in Man)'den tarandi.
(7.) OMIM Online Mendelian Inheritance of Man
PFIC2 (ABCB11 disease, OMIM #601847) is caused by mutations in ABCB11, which is located on the long arm of the second chromosome (2q24) and encodes the canalicular transport protein ABCB11/BSEP [51].
Genoglyphix[R] Analysis software suggests this area of duplication is comprised of at least 72 genes, of which 43 are OMIM genes.
The X-linked hyper-IgM syndrome (XHIGM, OMIM # 308230) is a rare, inherited immune deficiency disorder characterized by recurrent infections associated with low IgG and IgA and normal to increased IgM serum levels.
Ganglioneuromatosis polyposis, as the name implies, consists of many polyps, while diffuse transmural ganglioneuromas have a high association with neurofibromatosis type 1 (NF1), multiple endocrine neoplasia type 2b (MEN 2b), and PTEN hamartoma syndrome [3] (OMIM 601728).
Fragile X Syndrome (FXS, OMIM 300624) is a genetic disease inherited through the X chromosome and falling under the umbrella of the trinucleotide repeat disorders.
These disorders include neurofibromatosis type 1 (NF1, OMIM 162200), Legius syndrome (NFLS, OMIM 611431), Noonan syndrome (NS, OMIM 163950), Noonan syndrome with multiple lentigines (also called LEOPARD syndrome, LS, OMIM 151100), Costello syndrome (CS, OMIM 218040), cardiofaciocutaneous syndrome (CFCS, OMIM 115100), Noonan-like syndromes, hereditary gingival fibromatosis (HGF, OMIM 135300), and capillary malformation-arteriovenous malformation (CMAVM, OMIM 608354).
Sindromes asociados a coloboma ocular * Sindrome CHARGE (Sindrome Hall-Hittner; OMIM 214800) * Sindrome Renal Coloboma (OMIM 120330) * Sindrome Cat-eye (Sindrome Schmid-Fraccaro; OMIM 115470) * Sindrome Kabuki (OMIM 147920) [Please note: Some non-Latin characters were omitted from this article]
Joubert syndrome (and related disorders) (OMIM 213300).