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Summary Literature (0)
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 LMX1B on chromosome 9q33.3.

Synonyms: Fong disease, Turner-Kiser syndrome, hereditary onychoostedysplasia, iliac horn syndrome, nail patella syndrome

In OMIM:
OMIM:161200 - NAIL-PATELLA SYNDROME; NPS

In Mondo Disease Ontology:
MONDO:0008061 - nail-patella syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : lmx1b.1, lmx1b.2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)