Smith-McCort dysplasia 2

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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:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rab33b

MIM:

MIM:615222 - SMITH-MCCORT DYSPLASIA 2; SMC2

MIM:615222 - SMITH-MCCORT DYSPLASIA 2; SMC2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Smith-McCort dysplasia (is_a)