Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024
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Preferred Name

dystrophin
Synonyms

DXS268

muscular dystrophy, Duchenne and Becker types

DXS206

DXS230

DXS142

DXS270

BMD

DXS269

DXS164

DXS239

DXS272
ID

http://www.orpha.net/ORDO/Orphanet_121117
alternative_term

DXS268

muscular dystrophy, Duchenne and Becker types

DXS206

DXS230

DXS142

DXS270

BMD

DXS269

DXS164

DXS239

DXS272
hasDbXref

Reactome:P11532

OMIM:300377

SwissProt:P11532

Genatlas:DMD

ClinVar:DMD

Ensembl:ENSG00000198947

HGNC:2928
label

dystrophin
prefixIRI

ORDO:Orphanet_121117
prefLabel

dystrophin
symbol

DMD
subClassOf

http://www.orpha.net/ORDO/Orphanet_410298
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/OMIT_0016735 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00022558 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C75325 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D016189 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75325 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0079259 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.543.250 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/4001-0044 CRISP LOOM
http://purl.obolibrary.org/obo/IMR_0000204 HOIP LOOM
http://purl.obolibrary.org/obo/IMR_0000204 TXPO LOOM
http://purl.org/obo/owlapi/fma#FMA_62357 BIOMODELS LOOM
http://localhost/plosthes.2017-1#5058 PLOSTHES LOOM
http://purl.jp/bio/4/id/200906091977832006 IOBC LOOM
http://id.nlm.nih.gov/mesh/D016189 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016189 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15136 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/300377 OMIM LOOM
http://purl.obolibrary.org/obo/PR_000006537 PR LOOM
http://purl.obolibrary.org/obo/PR_000006537 CCONT LOOM
http://purl.obolibrary.org/obo/PR_000006537 NIFSTD LOOM
http://purl.obolibrary.org/obo/PR_000006537 EFO LOOM
http://purl.obolibrary.org/obo/PR_000006537 OBA LOOM
http://purl.obolibrary.org/obo/MESH_D016189 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.210.500.250 RH-MESH LOOM
http://purl.org/sig/ont/fma/fma62357 FMA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.220.250 RH-MESH LOOM