Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

Duchenne muscular dystrophy

Synonyms

Muscular dystrophy, Duchenne

Definitions

A muscular dystrophy that has_material_basis_in X-linked disease that has material basis in mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_11723

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2016_03_01:129619006

OMIM:310200

NCI:C75482

SNOMEDCT_US_2016_03_01:387732009

MESH:D020388

SNOMEDCT_US_2016_03_01:76670001

SNOMEDCT_US_2016_03_01:267712004

SNOMEDCT_US_2016_03_01:155095006

UMLS_CUI:C0013264

definition

A muscular dystrophy that has_material_basis_in X-linked disease that has material basis in mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

has_exact_synonym

Muscular dystrophy, Duchenne

has_obo_namespace

disease_ontology

id

DOID:11723

in_subset

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

Duchenne muscular dystrophy

notation

DOID:11723

prefLabel

Duchenne muscular dystrophy

treeView

http://purl.obolibrary.org/obo/DOID_9884

subClassOf

http://purl.obolibrary.org/obo/DOID_9884

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Delete Mapping To Ontology Source
http://www.ebi.ac.uk/efo/EFO_0000429 CLO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11723 NATPRO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75482 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75482 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75482 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75482 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75482 NCIT LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013264 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10013801 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Duchenne_Muscular_Dystrophy CSEO LOOM
http://www.co-ode.org/ontologies/galen#DuchenneMuscularDystrophy GALEN LOOM
http://purl.bioontology.org/ontology/SNMI/DA-51220 SNMI LOOM
http://purl.obolibrary.org/obo/DOID_11723 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11723 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_11723 DTO LOOM
http://purl.obolibrary.org/obo/DOID_11723 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_11723 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_11723 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11723 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_11723 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_11723 NIFSTD SAME_URI
http://purl.bioontology.org/ontology/RCD/F3910 RCD LOOM
http://www.orpha.net/ORDO/Orphanet_98896 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_98896 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_98896 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_98896 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_98896 HORD LOOM
http://www.orpha.net/ORDO/Orphanet_98896 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_98896 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_98896 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_98896 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_98896 EFO LOOM
http://www.projecthalo.com/aura#Duchenne-Muscular-Dystrophy AURA LOOM
http://identifiers.org/omim/310200 RETO LOOM
http://identifiers.org/omim/310200 GEXO LOOM
http://identifiers.org/omim/310200 REXO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13913 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010679 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010679 MONDO LOOM
http://purl.bioontology.org/ontology/RCTV2/F391000 RCTV2 LOOM
http://purl.bioontology.org/ontology/CSP/5006-0010 CRISP LOOM
http://localhost/plosthes.2017-1#8184 PLOSTHES LOOM
http://id.loc.gov/authorities/subjects/sh86006749 FAST-TOPICAL LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/76670001 SNOMEDCT LOOM