FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term nail-patella syndrome ID (Ontology) DOID:9467 (Human Disease)
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.
Also Known As "Fong disease" ; "hereditary onychoostedysplasia" ; "iliac horn syndrome" (for all, see Synonyms field below)
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 Genes
 nail-patella syndrome       2
 for disease ribbon | nail-patella syndrome       2
 model of | nail-patella syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                nail-patella syndrome  2 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "Fong disease" EXACT
    "hereditary onychoostedysplasia" EXACT
    "iliac horn syndrome" EXACT
    "nail patella syndrome" EXACT
    "Turner-Kiser syndrome" EXACT
Secondary IDs
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GARD:7160
ICD10CM:Q87.2
MEDDRA:10063431
MESH:D009261
MIM:161200
NCI:C75120
ORDO:2614
SNOMEDCT_US_2023_03_01:22199006
UMLS_CUI:C0027341