Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

congenital generalized lipodystrophy

Synonyms

Beradinelli-Seip syndrome

Definitions

OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050585

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:PS608594

has_exact_synonym

Beradinelli-Seip syndrome

has_obo_namespace

disease_ontology

id

DOID:0050585

in_subset

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

label

congenital generalized lipodystrophy

notation

DOID:0050585

prefLabel

congenital generalized lipodystrophy

treeView

http://purl.obolibrary.org/obo/DOID_811

subClassOf

http://purl.obolibrary.org/obo/DOID_811

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131424 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131424 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131424 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131424 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131424 NCIT LOOM
http://www.ebi.ac.uk/efo/EFO_1000681 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_1000681 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_1000681 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_1000681 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_1000681 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_1000681 EFO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU042895 OMIM LOOM
http://purl.obolibrary.org/obo/DDO.owl#DDO_0009277 FASTO LOOM
http://purl.obolibrary.org/obo/DDO.owl#DDO_0009277 DDO LOOM
http://purl.obolibrary.org/obo/DDO.owl#DDO_0009277 DMTO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10053432 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_0050585 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050585 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050585 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050585 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050585 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DERMO_0001315 DERMO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15916 DERMLEX LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/284449005 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/HP_0009059 HP LOOM
http://purl.obolibrary.org/obo/HP_0009059 HP LOOM
http://purl.obolibrary.org/obo/HP_0009059 UPHENO LOOM