Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION

Synonyms

CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION

ID

http://purl.bioontology.org/ontology/OMIM/608354

altLabel

CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION

CMAVM

cui

C2675370

C1842180

Gene Locus

5q13.3

Gene Symbol

PKWS

RASA1

GAP

CMAVM

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU006471

http://purl.bioontology.org/ontology/OMIM/MTHU049989

http://purl.bioontology.org/ontology/OMIM/MTHU049984

http://purl.bioontology.org/ontology/OMIM/MTHU049987

http://purl.bioontology.org/ontology/OMIM/MTHU049986

http://purl.bioontology.org/ontology/OMIM/MTHU049988

http://purl.bioontology.org/ontology/OMIM/MTHU049985

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

608354

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION

tui

T047

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564254 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564254 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564254 Medical Subject Headings LOOM