Mondo Disease Ontology

Last uploaded: December 3, 2024
Preferred Name

partial deletion of the short arm of chromosome 5
Synonyms

partial deletion of the short arm of chromosome type 5

partial monosomy of chromosome 5p

partial deletion of chromosome 5p

partial monosomy of the short arm of chromosome 5

ID

http://purl.obolibrary.org/obo/MONDO_0016887

database_cross_reference

GARD:20809

icd11.foundation:1109271336

Orphanet:261893

has_exact_synonym

partial deletion of the short arm of chromosome type 5

partial monosomy of chromosome 5p

partial deletion of chromosome 5p

partial monosomy of the short arm of chromosome 5

IAO_0000233

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

id

MONDO:0016887

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 the short arm of chromosome 5

notation

MONDO:0016887

prefLabel

partial deletion of the short arm of chromosome 5

skos_exactMatch

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1109271336

http://purl.obolibrary.org/obo/Orphanet_261893

terms_conformsTo

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

treeView

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

subClassOf

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

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