Experimental Factor Ontology

Last uploaded: December 16, 2024
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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

MEDGEN:1826053

UMLS:C5679787

Orphanet:207085

NANDO:1200487

GARD:2031
exactMatch

http://identifiers.org/medgen/1826053

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

http://www.orpha.net/ORDO/Orphanet_207085
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#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

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

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

qualitative or quantitative defects of dystrophin
notation

MONDO:0016147
preferred label

qualitative or quantitative defects of dystrophin
prefLabel

qualitative or quantitative defects of dystrophin
subClassOf

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