Search Ontology:
Human Disease

nonphotosensitive trichothiodystrophy 5

Term ID
DOID:0111868
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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