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 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
608354 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION |
tui |
T047 |