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DOID:0060247 - Smith-McCort dysplasia
Disease Ontology 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.
Synonyms:
Echinobase Genes :
MIM:607326 - smith-mccort dysplasia 1; smc1 |
MIM:615222 - smith-mccort dysplasia 2; smc2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Dyggve-Melchior-Clausen disease (is_a)