Scoliosis, isolated, susceptibility to, 1

Preferred Label : Scoliosis, isolated, susceptibility to, 1;

Symbol : IS1;

CISMeF acronym : AIS; IS1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Adolescent idiopathic scoliosis; Adolescent isolated scoliosis; AIS;

Description : Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994). Scoliosis may occur secondary to other hereditary disorders including Marfan syndrome (154700), dysautonomia (223900), neurofibromatosis (see 162200), Friedreich ataxia (see 229300), and muscular dystrophies. - Genetic Heterogeneity of Susceptibility to Scoliosis Loci for idiopathic scoliosis have been mapped to chromosome 19 (IS1), chromosome 17 (IS2; 607354), chromosome 8 (IS3; 608765), chromosome 9q31-q34 (IS4; 612238), and chromosome 17q25-qter (IS5; 612239).;

Inheritance : Autosomal dominant vs. multifactorial;

Prefixed ID : %181800;

Details

Origin ID

181800;

UMLS CUI

C2700406;

Automatic exact mappings (from CISMeF team)
- Adenocarcinoma In Situ [NCIt concept]
- Adolescent idiopathic scoliosis [ORDO Disease]
- Androgen insensitivity syndrome [ORDO Disease]
- androgen receptor [ORDO Gene]
False automatic mappings
- AR wt Allele [NCIt concept]
- Adolescent idiopathic scoliosis (disorder) [SNOMED CT concept]
- Anguilla [NCIt concept]
- TP63 wt Allele [NCIt concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Scoliosis [HPO term]
ORDO concept(s)
- Adolescent idiopathic scoliosis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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