Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/LNC/LP149832-0	LOINC	CUI
http://purl.bioontology.org/ontology/MESH/C537845	MESH	CUI
http://purl.bioontology.org/ontology/MDRGER/10086473	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/415295002	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C564013	MESH	CUI
http://purl.bioontology.org/ontology/MDRFRE/10086473	MDRFRE	CUI
http://purl.bioontology.org/ontology/MESH/C538268	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10086473	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNMI/D3-22100	SNMI	CUI
http://purl.bioontology.org/ontology/MDRFRE/10038748	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/I42.5	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/415295002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/G5541	RCD	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000688	NDFRT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/90828009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D002313	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D002313	MESH	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007196	MEDLINEPLUS	CUI
http://purl.bioontology.org/ontology/SCTSPA/90828009	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10038748	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10038748	MEDDRA	CUI
http://purl.bioontology.org/ontology/ICPC2P/K84036	ICPC2P	CUI