Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	TRANSFER RNA, MITOCHONDRIAL, PROLINE
Synonyms	MERFF SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/590075
altLabel	MERFF SYNDROME MTTP PARKINSON DISEASE, SUSCEPTIBILITY TO MYOPATHY tRNA-PRO, MITOCHONDRIAL
cui	C1538010 C4016625 C4015777 C0026848
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/590075.0001 http://purl.bioontology.org/ontology/OMIM/590075.0002 http://purl.bioontology.org/ontology/OMIM/590075.0003
MIMTYPEMEANING	Gene with known sequence
notation	590075
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	TRANSFER RNA, MITOCHONDRIAL, PROLINE
tui	T028 T033 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/M62.9	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/ICD10CM/M60-M63	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/ICD10/M60-M63.9	International Classification of Diseases, Version 10	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0026848	MedlinePlus Health Topics	CUI
http://purl.bioontology.org/ontology/ICD10CM/G72.9	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/ICD10/M62.9	International Classification of Diseases, Version 10	CUI
http://purl.bioontology.org/ontology/MESH/D009135	Medical Subject Headings	CUI
http://purl.bmicc.cn/ontology/ICD10CN/M60-M63.9	International Classification of Diseases, 10th Edition, China	CUI
http://purl.bmicc.cn/ontology/ICD10CN/M62.9	International Classification of Diseases, 10th Edition, China	CUI
http://purl.bmicc.cn/ontology/ICD10CN/G72.9	International Classification of Diseases, 10th Edition, China	CUI
http://purl.bioontology.org/ontology/ICD10/G72.9	International Classification of Diseases, Version 10	CUI