xeroderma pigmentosum group A
xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has material basis in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22
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xeroderma pigmentosum group A
Summary
xeroderma pigmentosum group An is a class of disease[1].
Key Facts
- xeroderma pigmentosum group A's instance of is recorded as class of disease[2].
- xeroderma pigmentosum group A's subclass of is recorded as xeroderma pigmentosum[3].
- xeroderma pigmentosum group A's OMIM ID is recorded as 278700[4].
- xeroderma pigmentosum group A's Disease Ontology ID is recorded as DOID:0110843[5].
- xeroderma pigmentosum group A's Orphanet ID is recorded as 276249[6].
- xeroderma pigmentosum group A's NCI Thesaurus ID is recorded as C3965[7].
- xeroderma pigmentosum group A's health specialty is recorded as medical genetics[8].
- xeroderma pigmentosum group A's genetic association is recorded as XPA[9].
- xeroderma pigmentosum group A's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110843[10].
- xeroderma pigmentosum group A's exact match is recorded as http://identifiers.org/doid/DOID:0110843[11].
- xeroderma pigmentosum group A's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_276249[12].
- xeroderma pigmentosum group A's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_910[13].
- xeroderma pigmentosum group A's UMLS CUI is recorded as C0268135[14].
- xeroderma pigmentosum group A's UMLS CUI is recorded as C1337030[15].
- xeroderma pigmentosum group A's ICD-10-CM is recorded as Q82.1[16].
- xeroderma pigmentosum group A's GARD rare disease ID is recorded as 5624[17].
- xeroderma pigmentosum group A's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- xeroderma pigmentosum group A's Mondo ID is recorded as MONDO_0010210[19].
- xeroderma pigmentosum group A's UniProt disease ID is recorded as DI-01155[20].