X-linked chondrodysplasia punctata 2

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Summary

Literature (0)

DOID:0080352 - X-linked chondrodysplasia punctata 2

Disease Ontology Definition:A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.

Synonyms: Conradi-Hunermann Syndrome, Happle syndrome,

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

: hdac6

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

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

Parent(s): chondrodysplasia punctata (is_a)