OBO ID: DOID:0111868
Term Name: nonphotosensitive trichothiodystrophy 5 Search Ontology:
Synonyms:
  • TTD5
Definition: A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. (2)
References:
Ontology: Human Disease   ( DOID:0111868 )
Relationships
is a type of:
OTHER nonphotosensitive trichothiodystrophy 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RNF113A Trichothiodystrophy 5, nonphotosensitive 300953
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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