Mondo Disease Ontology

Last uploaded: May 9, 2024

Preferred Name	obsolete partial autosomal monosomy
Synonyms	partial autosomal deletion
Definitions	Reason: grouping class. Term to consider: MONDO:0000761
ID	http://purl.obolibrary.org/obo/MONDO_0020054
Obsolete	true
comment	Reason: grouping class. Term to consider: MONDO:0000761
consider	MONDO:0000761
database_cross_reference	ICD10CM:Q93.3 Orphanet:98142 icd11.foundation:343448541 GARD:19422
deprecated	true
exactMatch	http://purl.obolibrary.org/obo/Orphanet_98142
has_exact_synonym	partial autosomal deletion
IAO_0000231	http://purl.obolibrary.org/obo/OMO_0001000
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4272
id	MONDO:0020054
in_subset	http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders
label	obsolete partial autosomal monosomy
notation	MONDO:0020054
prefLabel	obsolete partial autosomal monosomy

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0020054	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020054	KTAO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020054	EFO	LOOM