Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	BATTEN-TURNER CONGENITAL MYOPATHY
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/255300
cui	C0027127
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU065403 http://purl.bioontology.org/ontology/OMIM/MTHU065401 http://purl.bioontology.org/ontology/OMIM/MTHU065402
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	255300
OMIM Entry Type	5
OMIM MimType Value	perc
prefLabel	BATTEN-TURNER CONGENITAL MYOPATHY
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D009224	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10028655	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10028655	MEDDRA	CUI
http://purl.bioontology.org/ontology/ICD9CM/359.22	ICD9CM	CUI
http://purl.bioontology.org/ontology/MDRGER/10028655	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D009224	MESH	CUI
http://purl.bioontology.org/ontology/WHO/1662	WHO-ART	CUI
http://purl.bioontology.org/ontology/WHOFRE/1662	WHOFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002098	NDFRT	CUI
http://purl.obolibrary.org/obo/MONDO_0100468	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100468	DOVES	LOOM