Term Name: | nail-patella syndrome |
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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 ) |