Preferred Name

XERODERMA PIGMENTOSUM, VARIANT TYPE

Synonyms

XPV

ID

http://purl.bioontology.org/ontology/OMIM/278750

altLabel

XPV

XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES

PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS

cui

C1848410

Gene Locus

6p21.1-p12

Gene Symbol

XPV

POLH

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

278750

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

XERODERMA PIGMENTOSUM, VARIANT TYPE

tui

T047

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http://purl.obolibrary.org/obo/MONDO_0010214 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010214 Experimental Factor Ontology / 实验性因素本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C141367 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/C536766 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C536766 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_0110847 Human Disease Ontology / 人类疾病本体 LOOM