Preferred Label : Spondyloepimetaphyseal dysplasia, strudwick type;
Symbol : SEMDSTWK;
CISMeF acronym : SEMDC; SEMDSTWK; SMD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Smed, strudwick type; Semd, strudwick type; Spondylometaepiphyseal dysplasia congenita, strudwick type; Strudwick syndrome; Dappled metaphysis syndrome; Spondylometaphyseal dysplasia; Smed, type I; SMD; SEMDC;
Description : The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by
disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled
metaphyses (summary by Tiller et al., 1995).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0017);
Prefixed ID : #184250;
Origin ID : 184250;
UMLS CUI : C0700635;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
Not associated HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT