Mondo Disease Ontology

Last uploaded: November 25, 2024
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Preferred Name

qualitative or quantitative protein defects in neuromuscular diseases
Synonyms
ID

http://purl.obolibrary.org/obo/MONDO_0016139
database_cross_reference

MEDGEN:1842598

Orphanet:207049

GARD:20388

UMLS:C5680807
IAO_0000233

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

MONDO:0016139
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

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

qualitative or quantitative protein defects in neuromuscular diseases
notation

MONDO:0016139
prefLabel

qualitative or quantitative protein defects in neuromuscular diseases
skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C5680807

http://purl.obolibrary.org/obo/Orphanet_207049

http://identifiers.org/medgen/1842598
treeView

http://purl.obolibrary.org/obo/MONDO_0005071
subClassOf

http://purl.obolibrary.org/obo/MONDO_0005071
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