Central Nervous System Venous Angioma - Ontology Report

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Central Nervous System Venous Angioma	go back to main search page
Accession:	DOID:9006290	browse the term
Definition:	A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding.
Synonyms:	exact_synonym:	Cerebral Venous Angioma; Cerebral Venous Angiomas; Intracranial Venous Angioma; Intracranial Venous Angiomas
	primary_id:	MESH:D020787; RDO:0007430
	xref:	EFO:1001774

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Genes (2)

Central Nervous System Venous Angioma

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ccnh

cyclin H

ISO

ClinVar Annotator: match by term: Cerebral venous angioma

ClinVar

PMID:23650393 PMID:25741868 PMID:31680349

NCBI chrNW_004936469:5,933,163...5,952,190
Ensembl chrNW_004936469:5,935,131...5,952,460

Rasa1

RAS p21 protein activator 1

ISO

ClinVar Annotator: match by term: Cerebral venous angioma

ClinVar

PMID:23650393 PMID:25741868 PMID:31680349

NCBI chrNW_004936469:5,839,560...5,933,049
Ensembl chrNW_004936469:5,839,743...5,932,021

Term paths to the root

Path 1
Term	Annotations
disease	16465
disease of anatomical entity	14116
nervous system disease	12340
Nervous System Malformations	2280
Central Nervous System Vascular Malformations	51
Central Nervous System Venous Angioma	2
Path 2
Term	Annotations
disease	16465
Developmental Disease	16381
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	16324
Congenital Abnormalities	7058
Cardiovascular Abnormalities	1470
Vascular Malformations	117
Central Nervous System Vascular Malformations	51
Central Nervous System Venous Angioma	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS