ZFIN Human Disease: familial partial lipodystrophy type 2

OBO ID: DOID:0070202

Term Name:	familial partial lipodystrophy type 2		Search Ontology:
Synonyms:	familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type FPLD2 reverse partial lipodystrophy
Definition:	A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (2)
References:	GARD:3126 MESH:D052496 NCI:C165527 OMIM:151660 ORDO:2348 SNOMEDCT_US_2023_03_01:715439000 UMLS_CUI:C1720860
Ontology:	Human Disease ( DOID:0070202 )

Relationships

is a type of:	autosomal dominant disease familial partial lipodystrophy autosomal dominant disease familial partial lipodystrophy Show first 5 Terms

OTHER familial partial lipodystrophy type 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LMNA	lmna	Lipodystrophy, familial partial, type 2	151660

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None