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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D029241
http://purl.bioontology.org/ontology/MESH/D029241
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|---|---|
| Preferred Name | Optic Atrophy, Autosomal Dominant |
| Definitions |
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
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| Synonyms |
Kjer Optic Atrophy
Atrophy, Kjer-Type Optic
Atrophy, Juvenile Optic
Optic Atrophy 1s
Kjer-Type Optic Atrophy
Optic Atrophy, Dominant
Optic Atrophy, Kjer-Type
Autosomal Dominant Optic Atrophy
Optic Atrophy, Kjer Type
Optic Atrophy, Hereditary, Autosomal Dominant
Atrophy, Kjer's Optic
Autosomal Dominant Optic Atrophy Kjer Type
Optic Atrophy Type 1
Atrophies, Juvenile Optic
Juvenile Optic Atrophy
Dominant Optic Atrophies
Optic Atrophy, Juvenile
Kjer's Optic Atrophy
Optic Atrophy 1
Optic Atrophies, Dominant
Kjer Type Optic Atrophy
Kjer-Type Optic Atrophies
Optic Atrophies, Juvenile
Optic Atrophies, Kjer-Type
Kjers Optic Atrophy
Dominant Optic Atrophy
Juvenile Optic Atrophies
Atrophies, Kjer-Type Optic
Optic Atrophy, Kjer's
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria. |
|---|---|
| altLabel |
Kjer Optic Atrophy
Atrophy, Kjer-Type Optic
Atrophy, Juvenile Optic
Optic Atrophy 1s
Kjer-Type Optic Atrophy
Optic Atrophy, Dominant
Optic Atrophy, Kjer-Type
Autosomal Dominant Optic Atrophy
Optic Atrophy, Kjer Type
Optic Atrophy, Hereditary, Autosomal Dominant
Atrophy, Kjer's Optic
Autosomal Dominant Optic Atrophy Kjer Type
Optic Atrophy Type 1
Atrophies, Juvenile Optic
Juvenile Optic Atrophy
Dominant Optic Atrophies
Optic Atrophy, Juvenile
Kjer's Optic Atrophy
Optic Atrophy 1
Optic Atrophies, Dominant
Kjer Type Optic Atrophy
Kjer-Type Optic Atrophies
Optic Atrophies, Juvenile
Optic Atrophies, Kjer-Type
Kjers Optic Atrophy
Dominant Optic Atrophy
Juvenile Optic Atrophies
Atrophies, Kjer-Type Optic
Optic Atrophy, Kjer's
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| prefLabel | Optic Atrophy, Autosomal Dominant
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| Machine permutation | 2002; see OPTIC ATROPHIES, HEREDITARY 2000-2001
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| HN | 2002; use OPTIC ATROPHIES, HEREDITARY 2000-2001
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| type | |
| tui | T047
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| TERMUI |
T812313
T365616
T842203
T443108
T443109
T812314
T446828
T365617
T842205
T812311
T842204
T365618
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| TH |
OMIM (2013)
NLM (2002)
NLM (2000)
GHR (2014)
ORD (2010)
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| MMR | 20130708
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| notation | D029241
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| Semantic type UMLS property | |
| Inverse of AQ |
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| DX | 20020101
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| cui | C0338508
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| DC | 1
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| MN |
C18.452.660.665
C10.574.500.662.100
C11.640.451.451.100
C16.320.400.630.100
C16.320.290.564.100
C10.292.700.225.500.100
C11.270.564.100
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| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
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| MDA | 19991103
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| subClassOf |
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| No notes to display |