PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Muscular Dystrophy, Duchenne
Synonyms
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.

ID

http://www.phoc.org.cn/pmo/class/PMO_00036714

Database_Cross_Reference

CCPSS:0031531

NCI:C75482

OMIM:310200

DXP:U001224

CHV:0000004169

RCD:F3910

MTH:NOCODE

SNOMEDCT_US:267712004

MDR:10013801

COSTAR:NOCODE

SNMI:DA-51220

MSH:D020388

NDFRT:N0000004131

MEDLINEPLUS:335

SNM:D-8022

SNOMEDCT_US:387732009

SNOMEDCT_US:129619006

MTHICD9:359.1

JABL:543

OMIM:300377

MEDCIN:32351

SNOMEDCT_US:76670001

SNOMEDCT_US:155095006

DXP:NOCODE

DO:DOID:11723

CSP:5006-0010

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.

label

Muscular Dystrophy, Duchenne

MCID

MC00004200

PMOID

PMO:00036714

prefixIRI

pmo:PMO_00036714

prefLabel

Muscular Dystrophy, Duchenne

Synonym

Cardiomyopathy, Dilated, X-Linked

Duchenne's Muscular Dystrophy

Muscular Dystrophy, Pseudohypertrophic

Muscular Dystrophy, Childhood, Pseudohypertrophic

Duchenne myodystrophy

pseudohypertrophic adult muscular dystrophy

classic X-linked recessive muscular dystrophy

adult pseudohypertrophic muscular dystrophy

MUSCULAR DYSTROPHY DUCHENNE

progressive muscular dystrophy (Duchenne)

Pseudohypertrph musc dystrophy

Duchenne Muscular Dystrophy

Pseudohypertrophic Childhood Muscular Dystrophy

Pseudohypertrophic muscular dystrophy

DUCHENNE MUSCULAR DYSTROPHY

Muscular Dystrophy, Pseudohypertrophic, Childhood

X-linked recessive muscular dystrophy

duchenne muscular dystrophy

Pseudohypertrophic Muscular Dystrophy, Childhood

MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE

MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, CHILDHOOD

progressive muscular dystrophy, Duchenne type

MUSCULAR DYSTROPHY, DUCHENNE TYPE

x-linked muscular dystrophy

Duchenne syndrome

Severe generalized familial muscular dystrophy

X-linked dilated cardiomyopathy (XLCM)

Duchenne muscular dystrophy (DMD)

Duchenne Type Progressive Muscular Dystrophy

DMD

X-linked muscular dystrophy

Duchenne-Type Progressive Muscular Dystrophy

pseudohypertrophic muscular paralysis

Duchenne musc. dyst.

X-linked dilated cardiomyopathy

mild X-linked recessive muscular dystrophy

Muscular dystrophy, Duchenne

Muscular Dystrophy, Duchenne Type

Progressive Muscular Dystrophy, Duchenne Type

pseudohypertrophic progressive muscular dystrophy

progressive muscular dystrophy of childhood

Childhood Pseudohypertrophic Muscular Dystrophy

Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

benign X-linked recessive muscular dystrophy

duchenne muscular dystrophy (DMD)

DMD - Duchenne muscular dystrophy

Benign Duchenne muscular dystrophy

Duchenne-Griesinger syndrome

Duchenne muscular dystrophy

Pseudohypertrophic Muscular Dystrophy

Duchenne dystrophy

Duchenne de Boulogne muscular dystrophy

Muscular Dystrophy, Duchenne [Disease/Finding]

DMD - Duchenne muscul dystroph

Childhood Muscular Dystrophy, Pseudohypertrophic

pseudohypertrophic progressive muscular dystrophy, Duchenne type

Progressive muscular dystrophy, Duchenne type

duchenne's muscular dystrophy

childhood pseudohypertrophic muscular dystrophy

Duchenne pseudohypertrophic muscular dystrophy

duchenne-griesinger syndrome

Duchenne muscular dystrophy (disorder)

Cardiomyopathy, Dilated, 3B

Duchenne muscular dystrophy (diagnosis)

Tree Number

T9.8.4.41.21

T9.3.1.9.1.9

T9.21.13.1.9.1.9

T9.8.4.38.9

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036611

http://www.phoc.org.cn/pmo/class/PMO_00036711

http://www.phoc.org.cn/pmo/class/PMO_00009569

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