Gene Expression Ontology

Last uploaded: December 16, 2015
Preferred Name

Duchenne muscular dystrophy

Synonyms

DMD

Definitions

(DMD) - Most common form of muscular dystrophy - a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.

ID

http://identifiers.org/omim/310200

altLabel

DMD

definition

(DMD) - Most common form of muscular dystrophy - a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.

id

OMIM:310200

notation

OMIM:310200

prefLabel

Duchenne muscular dystrophy

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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Delete Mapping To Ontology Source
http://identifiers.org/omim/310200 REXO SAME_URI
http://identifiers.org/omim/310200 RETO SAME_URI
http://purl.obolibrary.org/obo/DOID_11723 DTO LOOM
http://purl.obolibrary.org/obo/DOID_11723 DOID LOOM
http://purl.obolibrary.org/obo/DOID_11723 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11723 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_11723 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_11723 FNS-H LOOM
http://purl.bioontology.org/ontology/RCTV2/F391000 RCTV2 LOOM
http://www.ebi.ac.uk/efo/EFO_0000429 CLO LOOM
http://www.projecthalo.com/aura#Duchenne-Muscular-Dystrophy AURA LOOM
http://identifiers.org/omim/310200 REXO LOOM
http://identifiers.org/omim/310200 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_310200 CCO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11723 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013264 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/SNMI/DA-51220 SNMI LOOM
http://purl.bioontology.org/ontology/CSP/5006-0010 CRISP LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Duchenne_Muscular_Dystrophy CSEO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/76670001 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_98896 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C75482 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10013801 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75482 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13913 HRDO LOOM
http://localhost/plosthes.2017-1#8184 PLOSTHES LOOM
http://purl.obolibrary.org/obo/MONDO_0010679 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010679 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010679 DOVES LOOM
http://www.gamuts.net/entity#Duchenne_muscular_dystrophy GAMUTS LOOM
http://purl.bioontology.org/ontology/RCD/F3910 RCD LOOM
http://www.co-ode.org/ontologies/galen#DuchenneMuscularDystrophy GALEN LOOM