Trichothiodystrophy 6, nonphotosensitive

Preferred Label : Trichothiodystrophy 6, nonphotosensitive;

Symbol : TTD6;

CISMeF acronym : TTD6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the general transcription factor IIE polypeptide-2 gene (GTF2E2, 189964.0001);

Prefixed ID : #616943;

Details

Origin ID

616943;

UMLS CUI

C4310785;

Currated CISMeF NLP mapping
- nonphotosensitive trichothiodystrophy 6 [DO Concept]
DO Cross reference
- nonphotosensitive trichothiodystrophy 6 [DO Concept]
Genes related to phenotype
- General transcription factor iie, polypeptide 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Brittle hair [HPO term]
- Broad-based gait [HPO term]
- Coronal craniosynostosis [HPO term]
- Coxa valga [HPO term]
- Delayed skeletal maturation [HPO term]
- Dry skin [HPO term]
- Esotropia [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability, moderate [HPO term]
- Long-tract signs [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Mild intrauterine growth retardation [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Short stature [HPO term]
- Slow-growing hair [HPO term]
- Small for gestational age [HPO term]
- Tiger tail banding [HPO term]
Not associated HPO term(s)
- Cataract [HPO term]
- Cutaneous photosensitivity [HPO term]
- Increased bone mineral density [HPO term]
ORDO concept(s)
- Trichothiodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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