loading...| Preferred Name |
neuromuscular junction disease |
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| Synonyms |
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| Definitions |
Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0020124 |
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| database_cross_reference |
UMLS:C0751950 MESH:D020511 Orphanet:98491 SCTID:128213006 DOID:439 GARD:19473 |
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| definition |
Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions. |
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| disease has basis in dysfunction of | ||
| exactMatch |
http://purl.obolibrary.org/obo/DOID_439 http://purl.obolibrary.org/obo/Orphanet_98491 http://identifiers.org/snomedct/128213006 |
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| id |
MONDO:0020124 |
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| 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#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
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| label |
neuromuscular junction disease |
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| notation |
MONDO:0020124 |
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| preferred label |
neuromuscular junction disease |
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| prefLabel |
neuromuscular junction disease |
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| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0000408 |