De Sanctis-Cacchione syndrome Disease Ontology Browser

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Disease Ontology Browser

De Sanctis-Cacchione syndrome (DOID:0112158)
Alliance: disease page
Synonyms: xeroderma pigmentosum with neurologic manifestation
Alt IDs: OMIM:278800, MESH:C535992, NCI:C84666, ORDO:1569, UMLS_CUI:C0265201
Definition: A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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