Preferred Name

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B

Synonyms

XPB/CS

ID

http://purl.bioontology.org/ontology/OMIM/610651

altLabel

XPB/CS

XPBC

XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME

XP, GROUP B

XPB

cui

C1970808

C0268136

Gene Locus

2q21

Gene Symbol

ERCC3

XPB

TTD2

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000144

http://purl.bioontology.org/ontology/OMIM/MTHU000132

http://purl.bioontology.org/ontology/OMIM/MTHU000138

http://purl.bioontology.org/ontology/OMIM/MTHU000142

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU000130

http://purl.bioontology.org/ontology/OMIM/MTHU000152

http://purl.bioontology.org/ontology/OMIM/MTHU000148

http://purl.bioontology.org/ontology/OMIM/MTHU000146

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU000127

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU000137

http://purl.bioontology.org/ontology/OMIM/MTHU000135

http://purl.bioontology.org/ontology/OMIM/MTHU000129

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU036373

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU000149

http://purl.bioontology.org/ontology/OMIM/MTHU000143

http://purl.bioontology.org/ontology/OMIM/MTHU000141

http://purl.bioontology.org/ontology/OMIM/MTHU000151

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU000153

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000128

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU000136

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

610651

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B

Scope Statement

Caused by mutation in the ERCC excision repair 3, TFIIH core complex helicase subunit gene (ERCC3, 133510.0001) [MOLECULAR BASIS]

tui

T047

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_276252 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C567061 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3966 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/C562590 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C562590 Medical Subject Headings / 医学主题词表 LOOM