Term Name: | 46,XY gonadal dysgenesis with minifascicular neuropathy |
---|---|
Synonyms: | |
Definition: | A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). |
Ontology: | Human Disease [DOID:0051055] ( DOID:0051055 ) |