Experimental Factor Ontology

Last uploaded: November 18, 2024
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Preferred Name

chromosome 22q deletion
Synonyms

deletion 22q

partial deletion of the long arm of chromosome type 22

partial monosomy of chromosome 22q

partial monosomy 22q

partial monosomy of the long arm of chromosome 22

monosomy 22q

22q monosomy

22q deletion

partial deletion of the long arm of chromosome 22

partial deletion of chromosome 22q
ID

http://purl.obolibrary.org/obo/MONDO_0022760
database_cross_reference

Orphanet:262182

UMLS:C0265489

MEDGEN:539297

GARD:20841
exactMatch

http://identifiers.org/medgen/539297

http://linkedlifedata.com/resource/umls/id/C0265489

http://purl.obolibrary.org/obo/Orphanet_262182
has_exact_synonym

deletion 22q

partial deletion of the long arm of chromosome type 22

partial monosomy of chromosome 22q

partial monosomy 22q

partial monosomy of the long arm of chromosome 22

monosomy 22q

22q monosomy

22q deletion

partial deletion of the long arm of chromosome 22

partial deletion of chromosome 22q
IAO_0000233

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

MONDO:0022760
in_subset

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

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

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

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

chromosome 22q deletion
notation

MONDO:0022760
preferred label

chromosome 22q deletion
prefLabel

chromosome 22q deletion
see also

https://rarediseases.info.nih.gov/diseases/8668/chromosome-22q-deletion
subClassOf

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