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DO Term : nail-patella syndrome [DOID:9467] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
iliac horn syndrome,
Fong disease,
SNOMEDCT_US_2023_03_01:22199006,
NCI:C75120,
MEDDRA:10063431,
161200,
MESH:D009261,
ICD10CM:Q87.2,
OMIM:161200,
nail patella syndrome,
UMLS_CUI:C0027341,
hereditary onychoostedysplasia,
ORDO:2614,
GARD:7160,
Turner-Kiser syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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