Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

familial partial lipodystrophy

Synonyms

Koberling-Dunnigan Syndrome

Dunnigan Syndrome

Definitions

A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050440

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

alternative label

Koberling-Dunnigan Syndrome

Dunnigan Syndrome

database_cross_reference

UMLS_CUI:C1720859

MESH:D052496

OMIM:PS151660

NCI:C165527

UMLS_CUI:C0271694

UMLS_CUI:C1720860

UMLS_CUI:C1720861

SNOMEDCT_US_2023_03_01:715439000

SNOMEDCT_US_2023_03_01:1197745002

SNOMEDCT_US_2023_03_01:725035001

SNOMEDCT_US_2023_03_01:49292002

GARD:11962

NCI:C84708

ORDO:98306

definition

A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.

Xref MGI. OMIM mapping confirmed by DO. [SN].

has exact synonym

Koberling-Dunnigan Syndrome

Dunnigan Syndrome

has_obo_namespace

disease_ontology

id

DOID:0050440

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

familial partial lipodystrophy

notation

DOID:0050440

note

A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.

Xref MGI. OMIM mapping confirmed by DO. [SN].

preferred label

familial partial lipodystrophy

prefLabel

familial partial lipodystrophy

textual definition

A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.

subClassOf

http://purl.obolibrary.org/obo/DOID_0080299

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050440 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050440 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050440 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050440 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050440 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_0050440 DDSS LOOM
http://nanbyodata.jp/ontology/NANDO_1200861 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0020088 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0050440 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0020088 MONDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13323 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_98306 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0020088 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0020088 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0020088 DOVES LOOM
http://purl.obolibrary.org/obo/NCIT_C84708 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10087377 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Familial_Partial_Lipodystrophy CSEO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14702 DERMLEX LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84708 NCIT LOOM
http://purl.obolibrary.org/obo/DERMO_0001316 DERMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/49292002 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/DOID_0050440 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050440 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050440 FNS-H LOOM
http://www.orpha.net/ORDO/Orphanet_98306 ORDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050440 NATPRO LOOM