ZFIN Human Disease: nail-patella syndrome

OBO ID: DOID:9467

Term Name:	nail-patella syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER nail-patella syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LMX1B	lmx1bb lmx1ba	Nail-patella syndrome	161200

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (2)