Trichothiodystrophy

Preferred Label : Trichothiodystrophy;

NCIt synonyms : Trichothiodystrophy Syndrome;

NCIt definition : A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical retardation, and decreased fertility.;

Alternative definition : NCI-GLOSS: A hereditary condition characterized by sparse and brittle hair, short stature, and mental retardation.;

Codes from synonyms : CDR0000046692;

Details

Origin ID

C4924;

UMLS CUI

C1955934;

Automatic exact mappings (from CISMeF team)
- Trichothiodystrophy [OMIM phenotypic series]
- photosensitive trichothiodystrophy [DO Concept]
- trichothiodystrophy [DO Concept]
Currated CISMeF NLP mapping
- Tricho-thiodystrophy (disorder) [Inactive SNOMED CT concept]
- Trichothiodystrophy [PASCAL descriptor]
- Trichothiodystrophy [ICD-11 More detail]
- Trichothiodystrophy [MedDRA Preferred Term]
- Trichothiodystrophy [ORDO Disease]
- Trichothiodystrophy (disorder) [SNOMED CT concept]
- trichothiodystrophy [Disease (Nov.)]
- trichothiodystrophy syndromes [MeSH Descriptor]
- trichothiodystrophy syndromes [MeSH concept]
DO Cross reference
- photosensitive trichothiodystrophy [DO Concept]
- trichothiodystrophy [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichothiodystrophy [PASCAL descriptor]
- Trichothiodystrophy [MedDRA Preferred Term]
- Trichothiodystrophy (disorder) [SNOMED CT concept]
- photosensitive trichothiodystrophy [DO Concept]
- trichothiodystrophy [DO Concept]
- trichothiodystrophy syndromes [MeSH concept]
- trichothiodystrophy syndromes [MeSH Descriptor]
associated_with_malfunction_of_gene_product
- General Transcription and DNA Repair Factor IIH Helicase Subunit XPD [NCIt concept]
- TFIIH Basal Transcription Factor Complex Helicase XPB Subunit [NCIt concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- ERCC2 Gene [NCIt concept]
- ERCC2 wt Allele [NCIt concept]
- ERCC3 Gene [NCIt concept]
- ERCC3 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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