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Metadata
ID DOID:9467
Name nail-patella 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.
https://www.ncbi.nlm.nih.gov/pubmed/15416035, https://www.ncbi.nlm.nih.gov/pubmed/9590287
Xrefs

GARD:7160

ICD10CM:Q87.2

MEDDRA:10063431

MESH:D009261

NCI:C75120

OMIM:161200

ORDO:2614

SNOMEDCT_US_2023_03_01:22199006

UMLS_CUI:C0027341

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Fong disease [EXACT]

hereditary onychoostedysplasia [EXACT]

iliac horn syndrome [EXACT]

nail patella syndrome [EXACT]

Turner-Kiser syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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