About   Help   FAQ
Disease Ontology Browser
nonphotosensitive trichothiodystrophy 5 (DOID:0111868)
Alliance: disease page
Synonyms: TTD5
Alt IDs: OMIM:300953, MESH:D054463, NCI:C156433
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory