De Sanctis-Cacchione syndrome

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Summary

Literature (0)

DOID:0112158 - De Sanctis-Cacchione syndrome

Disease Ontology Definition:A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.

Synonyms: xeroderma pigmentosum with neurologic manifestation

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

: ercc6

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

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

Parent(s): xeroderma pigmentosum (is_a)