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Leber congenital amaurosis 13
Human disease
LCA13
Retinitis Pigmentosa 53
LEBER CONGENITAL AMAUROSIS 13; LCA13
LEBER CONGENITAL AMAUROSIS 13
Leber congenital amaurosis type 13
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
Leber congenital amaurosis
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110330
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110330
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110330
autosomal dominant disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110330
genetic association
RDH12
2 references
stated in
UniProt
UniProt protein ID
Q96NR8
retrieved
13 August 2019
stated in
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110330
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110330
http://identifiers.org/doid/DOID:0110330
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
MeSH descriptor ID
C567197
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012990
Disease Ontology ID
DOID:0110330
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110330
GARD rare disease ID
10882
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012990
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110330
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012990
Mondo ID
MONDO_0012990
0 references
OMIM ID
612712
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110330
UMLS CUI
C3150208
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012990
C2675186
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012990
UniProt disease ID
DI-00639
0 references
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Wikinews
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Wikisource
(0 entries)
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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