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(Q55781450)
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English
retinal arterial tortuosity
human disease
Retinal arteriolar tortuosity
Retinal hemorrhage with vascular tortuosity
RETINAL ARTERIES, TORTUOSITY OF; RATOR
RETINAL ARTERIES, TORTUOSITY OF
Retinal arterial tortuosity
Tortuosity of retinal arteries
RATOR
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008373
artery disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0111547
autosomal dominant disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0111547
genetic association
COL4A1
1 reference
stated in
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.
exact match
http://purl.obolibrary.org/obo/HP_0001136
1 reference
stated in
Human Phenotype Ontology release 2018-03-08
retrieved
8 October 2018
Human Phenotype Ontology ID
HP:0001136
http://www.orpha.net/ORDO/Orphanet_75326
0 references
http://purl.obolibrary.org/obo/DOID_0111547
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0111547
http://identifiers.org/doid/DOID:0111547
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0111547
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0111547
Human Phenotype Ontology ID
HP:0001136
2 references
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008373
stated in
Human Phenotype Ontology release 2018-03-08
retrieved
8 October 2018
Human Phenotype Ontology ID
HP:0001136
ICD-10-CM
Q14.1
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008373
Mondo ID
MONDO_0008373
0 references
OMIM ID
180000
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008373
Orphanet ID
75326
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008373
UMLS CUI
C1867327
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008373
C1843517
1 reference
stated in
Human Phenotype Ontology release 2018-03-08
retrieved
8 October 2018
Human Phenotype Ontology ID
HP:0001136
UniProt disease ID
DI-04437
0 references
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Wikiversity
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Wikivoyage
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Wiktionary
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