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Echinobase
Summary Literature (0)
DOID:0081271 - Smith-McCort dysplasia 2

Disease Ontology Definition:A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31.

Synonyms:

Echinobase Genes :


OMIM:
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): Smith-McCort dysplasia (is_a)