Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	TRANSFER RNA, MITOCHONDRIAL, HISTIDINE
Synonyms	DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
ID	http://purl.bioontology.org/ontology/OMIM/590040
altLabel	DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL CARDIOMYOPATHY, HYPERTROPHIC, MITOCHONDRIAL MERRF/MELAS OVERLAP SYNDROME tRNA-HIS, MITOCHONDRIAL MTTH CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS
cui	C1538004 C3151897 C4016610 C3151970 C4016611 C3532240
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/590040.0003 http://purl.bioontology.org/ontology/OMIM/590040.0004 http://purl.bioontology.org/ontology/OMIM/590040.0001 http://purl.bioontology.org/ontology/OMIM/590040.0002
MIMTYPEMEANING	Gene with known sequence
notation	590040
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	TRANSFER RNA, MITOCHONDRIAL, HISTIDINE
tui	T028 T033 T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537845	Medical Subject Headings	CUI