Preferred Label : Short syndrome;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and
teething delay; Lipodystrophy, partial, with rieger anomaly and short stature;
Description : 'Short,' the mnemonic designation for this syndrome, is an acronym: S stature; H
hyperextensibility of joints or hernia (inguinal) or both; O ocular depression;
R Rieger anomaly; T teething delay. The name was given by Gorlin (1975), who described
the syndrome in 2 brothers. Dyment et al. (2013) noted that the features listed in
the acronym for;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the phosphatidylinositol 3-kinase, regulatory, 1 gene (PIK3R1,
171833.0002);
Laboratory abnormalities : Hyperglycemia;
Prefixed ID : #269880;
Origin ID : 269880;
UMLS CUI : C0878684;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)