Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	BRACHYOLMIA TYPE 3
Synonyms	BRACHYRACHIA
ID	http://purl.bioontology.org/ontology/OMIM/113500
altLabel	BRACHYRACHIA BCYM3 BRACHYOLMIA, AUTOSOMAL DOMINANT
cui	C0432227
Gene Locus	12q24.1
Gene Symbol	SSQTL1 SMAL BCYM3 HMSN2C TRPV4 SPSMA VROAC CMT2C
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006913 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU005440 http://purl.bioontology.org/ontology/OMIM/MTHU026836 http://purl.bioontology.org/ontology/OMIM/MTHU019226 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU000048 http://purl.bioontology.org/ontology/OMIM/MTHU036505 http://purl.bioontology.org/ontology/OMIM/MTHU000890 http://purl.bioontology.org/ontology/OMIM/MTHU002791 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU026835 http://purl.bioontology.org/ontology/OMIM/MTHU019225 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU001946
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	113500
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	BRACHYOLMIA TYPE 3
tui	T019

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C562963	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C562963	Medical Subject Headings	LOOM