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optic atrophy 7
human disease
OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY
OPA7
OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7
autosomal recessive optic atrophy, OPA7 type
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
nervous system heredodegenerative disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0013069
optic atrophy
2 references
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0013069
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111437
eye degenerative disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0013069
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111437
genetic association
TMEM126A
1 reference
stated in
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy
exact match
http://www.orpha.net/ORDO/Orphanet_227976
0 references
http://purl.obolibrary.org/obo/DOID_0111437
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111437
http://identifiers.org/doid/DOID:0111437
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0111437
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111437
ICD-10-CM
H47.2
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0013069
ICD-11 (foundation)
20551163
0 references
Mondo ID
MONDO_0013069
0 references
OMIM ID
612989
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0013069
Orphanet ID
227976
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0013069
UMLS CUI
C2751812
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0013069
C5190807
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
UniProt disease ID
DI-02531
0 references
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Wiktionary
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Multilingual sites
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