xeroderma pigmentosum group D
xeroderma pigmentosum that has material basis in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13
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xeroderma pigmentosum group D
Summary
xeroderma pigmentosum group D is a class of disease[1].
Key Facts
- xeroderma pigmentosum group D's instance of is recorded as class of disease[2].
- xeroderma pigmentosum group D's subclass of is recorded as xeroderma pigmentosum[3].
- xeroderma pigmentosum group D's subclass of is recorded as xeroderma pigmentosum-Cockayne syndrome complex[4].
- xeroderma pigmentosum group D's MeSH descriptor ID is recorded as C562591[5].
- xeroderma pigmentosum group D's OMIM ID is recorded as 278730[6].
- xeroderma pigmentosum group D's Disease Ontology ID is recorded as DOID:0110845[7].
- xeroderma pigmentosum group D's Orphanet ID is recorded as 276258[8].
- xeroderma pigmentosum group D's NCI Thesaurus ID is recorded as C3967[9].
- xeroderma pigmentosum group D's health specialty is recorded as medical genetics[10].
- xeroderma pigmentosum group D's genetic association is recorded as ERCC2[11].
- xeroderma pigmentosum group D's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110845[12].
- xeroderma pigmentosum group D's exact match is recorded as http://identifiers.org/doid/DOID:0110845[13].
- xeroderma pigmentosum group D's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_220295[14].
- xeroderma pigmentosum group D's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_276258[15].
- xeroderma pigmentosum group D's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_910[16].
- xeroderma pigmentosum group D's UMLS CUI is recorded as C1848412[17].
- xeroderma pigmentosum group D's UMLS CUI is recorded as C1848415[18].
- xeroderma pigmentosum group D's UMLS CUI is recorded as C1848414[19].
- xeroderma pigmentosum group D's UMLS CUI is recorded as C1848413[20].
- xeroderma pigmentosum group D's UMLS CUI is recorded as C0268138[21].
- xeroderma pigmentosum group D's ICD-10-CM is recorded as Q82.1[22].
- xeroderma pigmentosum group D's on focus list of Wikimedia project is recorded as WikiProject Medicine[23].
- xeroderma pigmentosum group D's Mondo ID is recorded as MONDO_0010212[24].
- xeroderma pigmentosum group D's UniProt disease ID is recorded as DI-01158[25].