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Experimental Factor Ontology
| Preferred Name | congenital myopathy 7A, myosin storage, autosomal dominant | |
| Synonyms |
MYH7-related late-onset scapuloperoneal syndrome scapuloperoneal syndrome, myopathic type scapuloperoneal muscular dystrophy autosomal dominant myosin storage myopathy MYH7-related scapuloperoneal myopathy scapuloperoneal myopathy, MYH7-related MYH7-related late-onset scapuloperoneal muscular dystrophy myopathy, myosin storage, autosomal dominant myopathy, hyaline body, autosomal dominant myopathy with lysis of type 1 myofibrils MYH7-related late-onset SPMD MSMA SPMD SPMM |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008409 |
|
| database_cross_reference |
MESH:C564253 OMIM:608358 UMLS:C1842160 ICD9:359.89 MEDGEN:374868 DOID:0111269 Orphanet:636965 Orphanet:437572 OMIM:181430 GARD:15429
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| exactMatch |
http://identifiers.org/mesh/C564253 http://purl.obolibrary.org/obo/DOID_0111269 http://purl.obolibrary.org/obo/Orphanet_636965 |
|
| has_exact_synonym |
MYH7-related late-onset scapuloperoneal syndrome scapuloperoneal syndrome, myopathic type scapuloperoneal muscular dystrophy autosomal dominant myosin storage myopathy MYH7-related scapuloperoneal myopathy scapuloperoneal myopathy, MYH7-related MYH7-related late-onset scapuloperoneal muscular dystrophy myopathy, myosin storage, autosomal dominant myopathy, hyaline body, autosomal dominant myopathy with lysis of type 1 myofibrils MYH7-related late-onset SPMD MSMA SPMD SPMM
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| IAO_0000233 | ||
| id |
MONDO:0008409
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder |
|
| label |
congenital myopathy 7A, myosin storage, autosomal dominant
|
|
| notation |
MONDO:0008409
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|
| preferred label |
congenital myopathy 7A, myosin storage, autosomal dominant
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|
| prefLabel |
congenital myopathy 7A, myosin storage, autosomal dominant
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|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016195 http://purl.obolibrary.org/obo/MONDO_0019952 |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0008409 | MONDO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0008409 | CCONT | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0008409 | DOVES | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0008409 | MONDO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0008409 | CCONT | LOOM |
| http://purl.bioontology.org/ontology/OMIM/608358 | OMIM | LOOM |