Cockayne Syndrome

Preferred Label : Cockayne Syndrome;

NCIt definition : An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.;

Alternative definition : NCI-GLOSS: A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.;

Codes from synonyms : CDR0000045491;

Détails

Origin ID

C9460;

UMLS CUI

C0009207;

Automatic exact mappings (from CISMeF team)
- Cockayne syndrome b [OMIM Phenotype]
- ERCC excision repair 5, endonuclease [ORDO Gene]
- ERCC excision repair 5, endonuclease [HGNC gene]
Currated CISMeF NLP mapping
- Cockayne Syndrome [Radlex concept]
- Cockayne syndrome [PASCAL descriptor]
- Cockayne syndrome [DO Concept]
- Cockayne syndrome [Disease (Nov.)]
- Cockayne syndrome [ICD-11 More detail]
- Cockayne syndrome [ORDO Disease]
- Cockayne syndrome (disorder) [SNOMED CT concept]
- Cockayne syndrome A [DO Concept]
- Cockayne's syndrome [MedDRA Preferred Term]
- cockayne syndrome [MeSH Descriptor]
- cockayne syndrome [MeSH concept]
- cockayne syndrome [SNOMED Notion]
DO Cross reference
- Cockayne syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cockayne Syndrome [Radlex concept]
- Cockayne syndrome [ORDO Disease]
- Cockayne syndrome [DO Concept]
- Cockayne syndrome (disorder) [SNOMED CT concept]
- Cockayne's syndrome [MedDRA Preferred Term]
- Neill-Dingwall syndrome [MedDRA LLT]
- cockayne syndrome [MeSH concept]
- cockayne syndrome [SNOMED Notion]
- cockayne syndrome [MeSH Descriptor]
Validated automatic mappings to BTNT
- Cockayne syndrome a [OMIM Phenotype]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
associated_with_malfunction_of_gene_product
- DNA Excision Repair Protein ERCC-6 [NCIt concept]
- DNA Repair Protein Complementing XP-G Cells [NCIt concept]
- General Transcription and DNA Repair Factor IIH Helicase Subunit XPD [NCIt concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_associated_gene
- ERCC2 Gene [NCIt concept]
- ERCC2 wt Allele [NCIt concept]
- ERCC5 Gene [NCIt concept]
- ERCC5 wt Allele [NCIt concept]
- ERCC6 Gene [NCIt concept]
- ERCC6 wt Allele [NCIt concept]
related_to_genetic_biomarker
- ERCC6 Gene [NCIt concept]
- ERCC8 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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