Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Congenital myasthenic syndromes
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_8737
ageOfDeath

Any age
ageOfOnset

Neonatal/infancy
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=congenital+myasthenic+syndrome%5Btw%5D+OR+myasthenic+syndromes,+congenital+OR+(myasthenia+gravis%2Fcn+(1970%5BPDAT%5D+%3A+1999%5BPDAT%5D))
id_MeSH

D020294
id_MIM

254190

254210

254300

601462

603034

605809

608930

608931

610542

614750
id_OMS

G70.2
id_Orpha

590
id_UMLS

C0751882
inheritance

Autosomal dominant

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_8737
prefLabel

Congenital myasthenic syndromes
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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