Preferred Name

OPA1 MITOCHONDRIAL DYNAMIN-LIKE GTPase

Synonyms

GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO

ID

http://purl.bioontology.org/ontology/OMIM/605290

altLabel

GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO

OPA1 GENE

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

KIAA0567

MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (ENCEPHALOCARDIOMYOPATHIC TYPE)

OPA1

BEHR SYNDROME

OPTIC ATROPHY 1

DYNAMIN-LIKE 120-KD PROTEIN, MITOCHONDRIAL

cui

C3276549

C1417953

C0221061

C1847730

C0338508

C4225538

Gene Locus

3q28-q29

Gene Symbol

BERHS

NTG

OPA1

NPG

MTDPS14

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/605290.0021

http://purl.bioontology.org/ontology/OMIM/605290.0022

http://purl.bioontology.org/ontology/OMIM/605290.0002

http://purl.bioontology.org/ontology/OMIM/605290.0003

http://purl.bioontology.org/ontology/OMIM/605290.0010

http://purl.bioontology.org/ontology/OMIM/605290.0016

http://purl.bioontology.org/ontology/OMIM/605290.0023

http://purl.bioontology.org/ontology/OMIM/605290.0008

http://purl.bioontology.org/ontology/OMIM/605290.0004

http://purl.bioontology.org/ontology/OMIM/605290.0015

http://purl.bioontology.org/ontology/OMIM/605290.0017

http://purl.bioontology.org/ontology/OMIM/605290.0009

http://purl.bioontology.org/ontology/OMIM/605290.0011

http://purl.bioontology.org/ontology/OMIM/605290.0020

http://purl.bioontology.org/ontology/OMIM/605290.0013

http://purl.bioontology.org/ontology/OMIM/605290.0012

http://purl.bioontology.org/ontology/OMIM/605290.0014

http://purl.bioontology.org/ontology/OMIM/605290.0006

http://purl.bioontology.org/ontology/OMIM/605290.0005

http://purl.bioontology.org/ontology/OMIM/605290.0007

http://purl.bioontology.org/ontology/OMIM/605290.0019

http://purl.bioontology.org/ontology/OMIM/605290.0018

http://purl.bioontology.org/ontology/OMIM/605290.0001

MIMTYPEMEANING

Gene with known sequence

notation

605290

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

OPA1 MITOCHONDRIAL DYNAMIN-LIKE GTPase

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP62805-4 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://www.orpha.net/ORDO/Orphanet_123996 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D029241 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C537669 Medical Subject Headings / 医学主题词表 CUI