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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Muscular Dystrophy, Duchenne | |
| Synonyms |
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| 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. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036714 |
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| 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
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| 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.
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| label |
Muscular Dystrophy, Duchenne
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| MCID |
MC00004200
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| PMOID |
PMO:00036714
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| prefixIRI |
pmo:PMO_00036714
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| prefLabel |
Muscular Dystrophy, Duchenne
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| 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)
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| 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
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036611 |
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