Mondo Disease Ontology

Last uploaded: January 7, 2025
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Preferred Name

qualitative or quantitative defects of dystrophin
Synonyms

dystrophinopathy
ID

http://purl.obolibrary.org/obo/MONDO_0016147
database_cross_reference

Orphanet:207085

UMLS:C5679787

NANDO:1200487

MEDGEN:1826053

GARD:2031
has_exact_synonym

dystrophinopathy
IAO_0000233

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

MONDO:0016147
in_subset

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

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 defects of dystrophin
notation

MONDO:0016147
prefLabel

qualitative or quantitative defects of dystrophin
skos_exactMatch

http://purl.obolibrary.org/obo/Orphanet_207085

http://identifiers.org/medgen/1826053

http://linkedlifedata.com/resource/umls/id/C5679787
treeView

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

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