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Summary Literature (0)
DOID:0061024 - nonphotosensitive trichothiodystrophy 9

Disease Ontology 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.

Synonyms: TTD9

Xenbase Genes :



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), nonphotosensitive trichothiodystrophy (is_a)