Xeroderma pigmentosum, complementation group g

Preferred Label : Xeroderma pigmentosum, complementation group g;

Symbol : XPG;

CISMeF acronym : XPGC; XPG/CS; XP7; XPG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Xp, group g; Xeroderma pigmentosum VII; XPGC; XP7;

Included titles and symbols : Xeroderma pigmentosum, type g/cockayne syndrome; XPG/CS;

Description : For a general description of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision-repair, complementing defective, in Chinese hamster, number 5 gene (ERCC5, 133530.0001);

Laboratory abnormalities : Defective DNA repair after ultraviolet radiation damage;

Prefixed ID : #278780;

Details

Origin ID

278780;

UMLS CUI

C0268141;

Automatic exact mappings (from CISMeF team)
- DNA Repair Protein Complementing XP-G Cells [NCIt concept]
- ERCC5 wt Allele [NCIt concept]
- Xeroderma Pigmentosum, Type G-Cockayne Syndrome [MeSH Supplementary Concept]
- Xeroderma Pigmentosum, Type G-Cockayne Syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Xeroderma Pigmentosum, Complementation Group G [NCIt concept]
- Xeroderma pigmentosum G [ICD-11 More detail]
- Xeroderma pigmentosum complementation group G [HPO term]
- Xeroderma pigmentosum complementation group G [ORDO Disease]
- Xeroderma pigmentosum, group G (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group G [Disease (Nov.)]
- xeroderma pigmentosum group G [DO Concept]
- xeroderma pigmentosum, complementation group G [MeSH concept]
- xeroderma pigmentosum, complementation group G [MeSH Supplementary Concept]
- xeroderma pigmentosum, group g [SNOMED Notion]
DO Cross reference
- xeroderma pigmentosum group G [DO Concept]
Genes related to phenotype
- Ercc excision repair 5, endonuclease [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cutaneous photosensitivity [HPO term]
- Defective DNA repair after ultraviolet radiation damage [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Infantile onset [HPO term]
- Infantile spasms [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Neonatal onset [HPO term]
- Pes cavus [HPO term]
- Small for gestational age [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
- Xeroderma pigmentosum [HPO term]
ORDO concept(s)
- COFS syndrome [ORDO Disease]
- Cockayne syndrome [ORDO Disease]
- Xeroderma pigmentosum [ORDO Disease]
- Xeroderma pigmentosum complementation group G [ORDO Disease]
- Xeroderma pigmentosum-Cockayne syndrome complex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma Pigmentosum, Complementation Group G [NCIt concept]
- Xeroderma pigmentosum complementation group G [HPO term]
- Xeroderma pigmentosum complementation group G [ORDO Disease]
- Xeroderma pigmentosum, group G (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group G [DO Concept]
- xeroderma pigmentosum group G [Disease (Nov.)]
- xeroderma pigmentosum, complementation group G [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group G [MeSH concept]
- xeroderma pigmentosum, group g [SNOMED Notion]
Validated automatic mappings to NTBT
- Xeroderma pigmentosum-Cockayne syndrome complex [ORDO Disease]

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