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Ontology Browser
Term:
Capillary Malformation-Arteriovenous Malformation 2 (DOID:9002861)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
Capillary Malformation-Arteriovenous Malformation 1  
Capillary Malformation-Arteriovenous Malformation 2  
An autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities.

Synonyms
Exact Synonyms: CMAVM2
Broad Synonyms: EPHB4-ASSOCIATED VASCULAR MALFORMATION SPECTRUM ;   EPHB4-RELATED CONDITION ;   EPHB4-RELATED DISORDERS
Primary IDs: MIM:618196
Definition Sources: MIM:618196

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