Term Name: nail-patella syndrome
Synonyms: Fong disease, hereditary onychoostedysplasia, iliac horn syndrome, nail patella syndrome, Turner-Kiser syndrome
Definition: A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3.
Ontology: Human Disease [DOID:9467]   ( DOID:9467 )

Relationships
is a type of: autosomal dominant disease syndrome