"MESH:C535992"^^ . "DOID:0112158"^^ . "OMIM:278800"^^ . . "disease_ontology"^^ . "A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration."^^ . . . "ORDO:1569"^^ . "SNOMEDCT_US_2021_09_01:254201008"^^ . "De Sanctis-Cacchione syndrome"^^ . "GARD:8276"^^ . "NCI:C84666"^^ . "xeroderma pigmentosum with neurologic manifestation"^^ . "UMLS_CUI:C0265201"^^ .