Retinal arteries, tortuosity of

Preferred Label : Retinal arteries, tortuosity of;

Symbol : RATOR;

CISMeF acronym : RATOR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinal hemorrhage with vascular tortuosity;

Description : Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma (summary by Nischler et al., 2011).;

Inheritance : Autosomal dominant;

Prefixed ID : #180000;

Details

Origin ID

180000;

UMLS CUI

C0423401;

Automatic exact mappings (from CISMeF team)
- Retinal arterial tortuosity [HPO term]
- Retinal arterial tortuosity (finding) [SNOMED CT concept]
- retinal arterial tortuosity [DO Concept]
Currated CISMeF NLP mapping
- Familial isolated retinal arterial tortuosity (disorder) [SNOMED CT concept]
- Retinal arterial tortuosity [ORDO Disease]
DO Cross reference
- retinal arterial tortuosity [DO Concept]
Genes related to phenotype
- Collagen, type iv, alpha-1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Photophobia [HPO term]
- Retinal arteriolar tortuosity [HPO term]
- Retinal hemorrhage [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Retinal arterial tortuosity [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Retinal arterial tortuosity [ORDO Disease]
- Retinal arterial tortuosity [HPO term]
- Retinal arterial tortuosity (finding) [SNOMED CT concept]
- Retinal arteriolar tortuosity [HPO term]

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