loading...| Preferred Name | congenital myopathy | |
| Synonyms |
myopathy congenital Batten Turner congenital myopathy congenital myopathy |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019952 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0019952 |
|
| database_cross_reference |
NANDO:2100234 DOID:0080100 OMIMPS:117000 MedDRA:10062547 NANDO:1200477 DOID:0081337 UMLS:C0270960 MEDGEN:124381 Orphanet:97245 icd11.foundation:1185572073 GARD:5898 |
|
| has_exact_synonym |
congenital myopathy |
|
| has_related_synonym |
myopathy congenital Batten Turner congenital myopathy |
|
| IAO_0000233 | ||
| id |
MONDO:0019952 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen 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 |
|
| label |
congenital myopathy |
|
| notation |
MONDO:0019952 |
|
| preferred label |
congenital myopathy |
|
| prefLabel |
congenital myopathy |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/medgen/124381 https://omim.org/phenotypicSeries/PS117000 http://purl.obolibrary.org/obo/DOID_0081337 http://linkedlifedata.com/resource/umls/id/C0270960 http://purl.obolibrary.org/obo/Orphanet_97245 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1185572073 |
|
| subClassOf | ||
| excluded_subClassOf |