nail-patella syndrome

Term ID

DOID:9467

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. (2)

References

• GARD:7160
• ICD10CM:Q87.2
• MEDDRA:10063431
• MESH:D009261
• NCI:C75120
• OMIM:161200
• ORDO:2614
• SNOMEDCT_US_2023_03_01:22199006
• UMLS_CUI:C0027341

Ontology

Human Disease   ( DOID:9467 )