Trichothiodystrophy 3, photosensitive

Preferred Label : Trichothiodystrophy 3, photosensitive;

Symbol : TTD3;

CISMeF acronym : TTDA; TTD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : TTDA; Trichothiodystrophy, complementation group a;

Prefixed ID : #616395;

Details

Origin ID

616395;

UMLS CUI

C4017171;

Currated CISMeF NLP mapping
- Trichothiodystrophy 3, Photosensitive [NCIt concept]
- photosensitive trichothiodystrophy 3 [DO Concept]
DO Cross reference
- photosensitive trichothiodystrophy 3 [DO Concept]
Genes related to phenotype
- General transcription factor iih, polypeptide 5 [OMIM gene]
HPO term(s)
- Abdominal adhesions [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral cryptorchidism [HPO term]
- Brittle hair [HPO term]
- Carious teeth [HPO term]
- Cataract [HPO term]
- Congenital ichthyosiform erythroderma [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Congenital onset [HPO term]
- Cutaneous photosensitivity [HPO term]
- Delayed CNS myelination [HPO term]
- Developmental cataract [HPO term]
- Eclabion [HPO term]
- Ectropion [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypertonia [HPO term]
- Hypotelorism [HPO term]
- Ichthyosis [HPO term]
- Increased circulating IgA level [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Lymphopenia [HPO term]
- Meckel diverticulum [HPO term]
- Microphthalmia [HPO term]
- Natal tooth [HPO term]
- Neoplasm of the skin [HPO term]
- Neutropenia [HPO term]
- Pyloric stenosis [HPO term]
- Recurrent infections [HPO term]
- Short stature [HPO term]
- Tiger tail banding [HPO term]
- Trichorrhexis nodosa [HPO term]
- Trigonocephaly [HPO term]
ORDO concept(s)
- Trichothiodystrophy [ORDO Disease]
See also inter- (CISMeF)
- GTF2H5 wt Allele [NCIt concept]
- general transcription factor IIH subunit 5 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichothiodystrophy 3, Photosensitive [NCIt concept]

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