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Mondo Disease Ontology
| Preferred Name | Emery-Dreifuss muscular dystrophy | |
| Synonyms |
scapuloperoneal syndrome, X-linked (formerly) Humeroperoneal neuromuscular disease, (formerly) EDMD Emery-Dreifuss muscular dystrophy Emery Dreifuss Muscular Dystrophy |
|
| Definitions |
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016830 |
|
| database_cross_reference |
NCIT:C84685 Orphanet:261 UMLS:C0410189 MEDGEN:96078 icd11.foundation:749295636 OMIMPS:310300 DOID:11726 NANDO:2200857 NORD:1084 MESH:D020389 GARD:6329 NANDO:1200492 SCTID:111508004
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|
| definition |
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
|
|
| has_exact_synonym |
EDMD Emery-Dreifuss muscular dystrophy Emery Dreifuss Muscular Dystrophy
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|
| has_related_synonym |
scapuloperoneal syndrome, X-linked (formerly) Humeroperoneal neuromuscular disease, (formerly)
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| IAO_0000233 | ||
| id |
MONDO:0016830
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
Emery-Dreifuss muscular dystrophy
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|
| notation |
MONDO:0016830
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|
| prefLabel |
Emery-Dreifuss muscular dystrophy
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|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_11726 http://identifiers.org/snomedct/111508004 http://purl.obolibrary.org/obo/NCIT_C84685 http://identifiers.org/medgen/96078 https://omim.org/phenotypicSeries/PS310300 http://identifiers.org/mesh/D020389 http://linkedlifedata.com/resource/umls/id/C0410189 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/749295636 |
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