Experimental Factor Ontology

Last uploaded: November 18, 2024
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Preferred Name

lymphatic malformation
Synonyms

lymphedema, hereditary

hereditary lymphedema
Definitions

Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.
ID

http://purl.obolibrary.org/obo/MONDO_0019313
database_cross_reference

UMLS:C0398368

SCTID:254199006

MEDGEN:140763

OMIMPS:153100

DOID:0050580

ICD10CM:Q82.0

GARD:13057

ICD9:757.0
definition

Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.
exactMatch

https://omim.org/phenotypicSeries/PS153100

http://identifiers.org/snomedct/254199006

http://identifiers.org/medgen/140763

http://purl.bioontology.org/ontology/ICD10CM/Q82.0

http://linkedlifedata.com/resource/umls/id/C0398368

http://purl.obolibrary.org/obo/DOID_0050580
has_exact_synonym

lymphedema, hereditary

hereditary lymphedema
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6740

https://github.com/monarch-initiative/mondo/issues/6877
id

MONDO:0019313
in_subset

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

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

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare
label

lymphatic malformation
notation

MONDO:0019313
preferred label

lymphatic malformation
prefLabel

lymphatic malformation
subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

http://purl.obolibrary.org/obo/MONDO_0019175

http://www.ebi.ac.uk/efo/EFO_0004264
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