Trichothiodystrophy 2, photosensitive

Preferred Label : Trichothiodystrophy 2, photosensitive;

Symbol : TTD2;

CISMeF acronym : TTD2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision-repair cross-complementing rodent repair deficiency, complementation group 3 gene (ERCC3, 133510.0003);

Prefixed ID : #616390;

Détails

Origin ID

616390;

UMLS CUI

C4225344;

Currated CISMeF NLP mapping
- Trichothiodystrophy 2, Photosensitive [NCIt concept]
- photosensitive trichothiodystrophy 2 [DO Concept]
DO Cross reference
- photosensitive trichothiodystrophy 2 [DO Concept]
Genes related to phenotype
- Ercc excision repair 3, tfiih core complex helicase subunit [OMIM gene]
HPO term(s)
- Agenesis of maxillary lateral incisor [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coarse hair [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Congenital onset [HPO term]
- Cutaneous photosensitivity [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
- Short stature [HPO term]
- Tiger tail banding [HPO term]
ORDO concept(s)
- Trichothiodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichothiodystrophy 2, Photosensitive [NCIt concept]

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