Experimental Factor Ontology

Last uploaded: September 16, 2024
Preferred Name

PPARG-related familial partial lipodystrophy
Synonyms

familial partial lipodystrophy associated with PPARG mutations

insulin resistance, severe, digenic

lipodystrophy, familial partial, type 3

lipodystrophy, familial partial, associated with Pparg mutations

PPARG-related FPLD

familial partial lipodystrophy type 3

FPLD3

ID

http://purl.obolibrary.org/obo/MONDO_0011448

database_cross_reference

DOID:0070204

MEDGEN:328393

UMLS:C1720861

Orphanet:79083

OMIM:604367

GARD:12600

exactMatch

https://omim.org/entry/604367

http://purl.obolibrary.org/obo/DOID_0070204

http://linkedlifedata.com/resource/umls/id/C1720861

http://www.orpha.net/ORDO/Orphanet_79083

http://identifiers.org/medgen/328393

has_exact_synonym

PPARG-related FPLD

familial partial lipodystrophy type 3

FPLD3

has_related_synonym

familial partial lipodystrophy associated with PPARG mutations

insulin resistance, severe, digenic

lipodystrophy, familial partial, type 3

lipodystrophy, familial partial, associated with Pparg mutations

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

id

MONDO:0011448

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disorder

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

label

PPARG-related familial partial lipodystrophy

notation

MONDO:0011448

preferred label

PPARG-related familial partial lipodystrophy

prefLabel

PPARG-related familial partial lipodystrophy

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020088

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