nonphotosensitive trichothiodystrophy 9 Disease Ontology Browser

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Disease Ontology Browser

nonphotosensitive trichothiodystrophy 9 (DOID:0061024)
Alliance: disease page
Synonyms: TTD9
Alt IDs: OMIM:619692
Definition: A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13.

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)
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