46,XY gonadal dysgenesis with minifascicular neuropathy

Term ID

DOID:0051055

Synonyms

Definition

A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). https://pubmed.ncbi.nlm.nih.gov/10483790/

References

• MIM:607080

Ontology

Human Disease   ( DOID:0051055 )