2 Disease Ontologies found (0.007 seconds)

acrofacial dysostosis, Patagonia type [DOID:0060385]

An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance.

Bjornstad syndrome [DOID:0050677]

A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.