Mondo Disease Ontology

Last uploaded: December 3, 2024
Preferred Name

partial deletion of chromosome 5
Synonyms

partial monosomy of chromosome 5

partial deletion of chromosome type 5

ID

http://purl.obolibrary.org/obo/MONDO_0016870

database_cross_reference

Orphanet:261786

MEDGEN:1825959

UMLS:C5679649

GARD:20793

has_exact_synonym

partial monosomy of chromosome 5

partial deletion of chromosome type 5

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/3664

id

MONDO:0016870

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders

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

http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping

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

label

partial deletion of chromosome 5

notation

MONDO:0016870

prefLabel

partial deletion of chromosome 5

skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C5679649

http://identifiers.org/medgen/1825959

http://purl.obolibrary.org/obo/Orphanet_261786

terms_conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/partial_chromosomal_deletion.yaml

treeView

http://purl.obolibrary.org/obo/MONDO_0700012

http://purl.obolibrary.org/obo/MONDO_0000761

subClassOf

http://purl.obolibrary.org/obo/MONDO_0700012

http://purl.obolibrary.org/obo/MONDO_0000761

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