Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	RIBOSOMAL RNA, MITOCHONDRIAL, 12S
Synonyms	AUDITORY NEUROPATHY
ID	http://purl.bioontology.org/ontology/OMIM/561000
altLabel	AUDITORY NEUROPATHY DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL MTRNR1 rRNA, 12S, MITOCHONDRIAL DEAFNESS, AMINOGLYCOSIDE-INDUCED CARDIOMYOPATHY, RESTRICTIVE
cui	C1852271 C1838854 C0007196 C3151897 C1537996
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/561000.0005 http://purl.bioontology.org/ontology/OMIM/561000.0006 http://purl.bioontology.org/ontology/OMIM/561000.0001 http://purl.bioontology.org/ontology/OMIM/561000.0002 http://purl.bioontology.org/ontology/OMIM/561000.0007 http://purl.bioontology.org/ontology/OMIM/561000.0003 http://purl.bioontology.org/ontology/OMIM/561000.0004
MIMTYPEMEANING	Gene with known sequence
notation	561000
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	RIBOSOMAL RNA, MITOCHONDRIAL, 12S
tui	T028 T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/LNC/LP149832-0	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/MESH/C538268	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C537845	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/ICD10CM/I42.5	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/D002313	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C564013	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007196	MedlinePlus Health Topics	CUI