OBO ID: DOID:0060247
Term Name: Smith-McCort dysplasia Search Ontology:
Synonyms:
Definition: A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. (2)
References:
Ontology: Human Disease   (DOID:0060247)
OTHER Smith-McCort dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DYM Smith-McCort dysplasia 607326
RAB33B Smith-McCort dysplasia 2 615222
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None