Short stature, idiopathic, X-linked

Preferred Label : Short stature, idiopathic, X-linked;

Symbol : ISS;

CISMeF acronym : ISS;

Type : Phenotype, molecular basis known;

Description : Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations (SD) of national height standards in the absence of specific causative disorders (Rao et al., 1997). For a discussion of genetic heterogeneity of quantitative trait loci for stature, see STQTL1 (606255).;

Prefixed ID : #300582;

Details

Origin ID

300582;

UMLS CUI

C1845118;

Automatic exact mappings (from CISMeF team)
- DNA Insertion Elements [NCIt concept]
- Idiopathic Short Stature [NCIt concept]
- SHOX-related short stature [ORDO Disease]
- is (tumor staging) [SNOMED CT concept]
Broader ORDO disease(s)
- Idiopathic short stature [ORDO Disease]
Currated CISMeF NLP mapping
- short stature, idiopathic, X-Linked [MeSH concept]
- short stature, idiopathic, X-Linked [MeSH Supplementary Concept]
False automatic mappings
- Iceland [NCIt concept]
Genes related to phenotype
- Short stature homeobox [OMIM gene]
- Short stature homeobox, y-linked [OMIM gene]
HPO term(s)
- Short stature [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- SHOX-related short stature [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- short stature, idiopathic, X-Linked [MeSH Supplementary Concept]
- short stature, idiopathic, X-Linked [MeSH concept]

Keyword's position in hierarchy(ies) :

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