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Metadata
ID	DOID:0111868
Name	nonphotosensitive trichothiodystrophy 5
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. https://pubmed.ncbi.nlm.nih.gov/25612912/, https://pubmed.ncbi.nlm.nih.gov/31880405/
Xrefs	MESH:D054463 MIM:300953 NCI:C156433
Subsets	NCIthesaurus
Synonyms	TTD5 [EXACT]
Parent Relationships	is_a X-linked dominant disease is_a nonphotosensitive trichothiodystrophy
Subclass Logical Relationships	has material basis in some X-linked dominant inheritance