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DOID:9467 - nail-patella syndrome
Disease Ontology 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.
Synonyms: Fong disease, hereditary onychoostedysplasia, iliac horn syndrome, nail patella syndrome, Turner-Kiser syndrome
Xenbase Genes
:
lmx1b,
lmx1b.2
| MONDO:0008061 - nail-patella syndrome |
| MIM:161200 - NAIL-PATELLA SYNDROME; NPS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)