Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE

Synonyms

MELAS SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/590070

altLabel

MELAS SYNDROME

EPILEPSY, MITOCHONDRIAL

MYOPATHY, MITOCHONDRIAL, LATE-ONSET

MTTF

ENCEPHALOPATHY, MITOCHONDRIAL

tRNA-PHE, MITOCHONDRIAL

MERRF SYNDROME

NEPHROPATHY, TUBULOINTERSTITIAL

cui

C1538002

C1852373

C0162671

C0162672

C4016623

C4016624

C0041349

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/590070.0007

http://purl.bioontology.org/ontology/OMIM/590070.0002

http://purl.bioontology.org/ontology/OMIM/590070.0001

http://purl.bioontology.org/ontology/OMIM/590070.0004

http://purl.bioontology.org/ontology/OMIM/590070.0005

http://purl.bioontology.org/ontology/OMIM/590070.0006

http://purl.bioontology.org/ontology/OMIM/590070.0003

MIMTYPEMEANING

Gene with known sequence

notation

590070

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE

tui

T047

T033

T028

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10074070 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10067602 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10067603 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10048302 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10074070 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10074070 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C538525 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10053872 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/39925003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/5000-0048 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D017241 MESH CUI
http://purl.bioontology.org/ontology/RCD/X40U0 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10067602 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/DA-51640 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/39925003 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10053872 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E88.41 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10053872 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10067602 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003560 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D017241 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10062939 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10069825 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/DA-51670 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/DA-51660 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10067603 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D017243 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/230426003 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10067603 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/230426003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003561 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/E88.42 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10069825 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10069825 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10062939 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X006Y RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10062939 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D017243 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/428255004 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10048302 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X30JK RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/N16 ICD10CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D009395 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/D7-12400 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/428255004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/N15.9 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10/N15.9 ICD10 CUI
http://purl.bioontology.org/ontology/ICD10/N10-N16.9 ICD10 CUI
http://purl.bioontology.org/ontology/ICD10CM/N10-N16 ICD10CM CUI
http://purl.bioontology.org/ontology/MESH/D009395 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10048302 MDRFRE CUI