Terminology Service for NFDI4Health
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Nail-Patella Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C75120

A rare autosomal dominant syndrome caused by mutations in the LMX1B gene. It is characterized by fingernail deformities, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, nephropathy, and glaucoma. [ ]

Term info

Label

Nail-Patella Syndrome

Synonyms
  • Hereditary Osteo-Onychodysplasia
  • Nail-Patella Syndrome
Subsets

NCIT_C90259, NCIT_C123272

ALT DEFINITION

A rare autosomal dominant syndrome caused by mutations in the LMX1B gene, which is characterized by dysplastic nails, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, and nephropathy.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C28193

Legacy Concept Name

Nail_Patella_Syndrome

NICHD Hierarchy Term

Nail-Patella Syndrome

Preferred Name

Nail-Patella Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0027341

code

C75120