Preferred Label : Fontaine progeroid syndrome;
Symbol : FPS;
CISMeF acronym : FPS; GCMS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Progeroid syndrome, congenital, petty type; GCMS; Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye
anomalies, patent ductus arteriosus, and normal intelligence; Gorlin-chaudhry-moss syndrome;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier, phosphate
carrier), member 24 gene (SLC25A24, 608744.0001);
Prefixed ID : #612289;
Origin ID : 612289;
UMLS CUI : C2676780;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)