Online Mendelian Inheritance in Man - BRACHYOLMIA TYPE 2 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	BRACHYOLMIA TYPE 2
Synonyms	BCYM2
ID	http://purl.bioontology.org/ontology/OMIM/613678
altLabel	BCYM2 BRACHYOLMIA, MAROTEAUX TYPE
cui	C3159322
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU030399 http://purl.bioontology.org/ontology/OMIM/MTHU030401 http://purl.bioontology.org/ontology/OMIM/MTHU000585 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU030398 http://purl.bioontology.org/ontology/OMIM/MTHU030400
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	613678
OMIM Entry Type	5
OMIM MimType Value	perc
prefLabel	BRACHYOLMIA TYPE 2
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C563218	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C563218	Medical Subject Headings	LOOM