Preferred Label : Trichorhinophalangeal syndrome, type I;
Symbol : TRPS1;
CISMeF acronym : TRPS1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Trps I;
Description : Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by
distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal
dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip
of the nose, long flat philtrum, thin upper vermilion border, and protruding ears.
Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations,
and short stature.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the zinc finger transcription factor TRPS1 (TRPS1, 604386.0001);
Prefixed ID : #190350;
Origin ID : 190350;
UMLS CUI : C0432233;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
Manual NTBT mappings (CISMeF)
Not associated HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)