Smith-McCort dysplasia

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Summary

Literature (0)

DOID:0060247 - Smith-McCort dysplasia

Disease Ontology Definition:A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest.

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, dym

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0015799 - Smith-McCort dysplasia

MONDO:0015799 - Smith-McCort dysplasia

MIM:

MIM:607326 - SMITH-MCCORT DYSPLASIA 1; SMC1
MIM:615222 - SMITH-MCCORT DYSPLASIA 2; SMC2

MIM:607326 - SMITH-MCCORT DYSPLASIA 1; SMC1

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): Dyggve-Melchior-Clausen disease (is_a)