Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

non-syndromic limb reduction defect
Synonyms

isolated limb reduction defect

nonsyndromic limb reduction defect

non-syndromic limb hypoplasia

Definitions

This term was considered for obsoletion in the mass obsoletion effort but it should not be obsoleted.

ID

http://purl.obolibrary.org/obo/MONDO_0019713

comment

This term was considered for obsoletion in the mass obsoletion effort but it should not be obsoleted.

database_cross_reference

UMLS:C5680277

MEDGEN:1842256

GARD:19210

Orphanet:93457

has_exact_synonym

nonsyndromic limb reduction defect

non-syndromic limb hypoplasia

has_related_synonym

isolated limb reduction defect

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6751

https://github.com/monarch-initiative/mondo/issues/5114

https://github.com/monarch-initiative/mondo/issues/5114#issuecomment-1727925308

https://github.com/monarch-initiative/mondo/issues/4948

id

MONDO:0019713

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

non-syndromic limb reduction defect

notation

MONDO:0019713

prefLabel

non-syndromic limb reduction defect

skos_exactMatch

http://purl.obolibrary.org/obo/Orphanet_93457

http://linkedlifedata.com/resource/umls/id/C5680277

http://identifiers.org/medgen/1842256

treeView

http://purl.obolibrary.org/obo/MONDO_0018230

subClassOf

http://purl.obolibrary.org/obo/MONDO_0018230

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