Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

CAPILLARY MALFORMATIONS, CONGENITAL
Synonyms

CMAL

CAPILLARY MALFORMATIONS

PORT-WINE STAIN

NEVI FLAMMEI, FAMILIAL MULTIPLE

CMC
ID

http://purl.bioontology.org/ontology/OMIM/163000
altLabel

CMAL

CAPILLARY MALFORMATIONS

PORT-WINE STAIN

NEVI FLAMMEI, FAMILIAL MULTIPLE

CMC
cui

C2931029

C0340803

C0235752
Gene Locus

9q21
Gene Symbol

CMC1

GNAQ

SWS
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

163000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CAPILLARY MALFORMATIONS, CONGENITAL
tui

T047

T019
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http://purl.bioontology.org/ontology/SNOMEDCT/763714006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10089079 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10036196 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/C535816 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/763714006 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10089079 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/234118009 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C562760 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10089079 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X207N RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/234118009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10067193 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10036197 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10067195 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10083301 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10083544 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D019339 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-40302 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10062800 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/416377005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10036196 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10083301 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D019339 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10083544 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10067195 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10062800 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/254211001 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10067193 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10036197 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254211001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10067193 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X78DK RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10062800 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/PH311 RCD CUI
http://purl.bioontology.org/ontology/WHO/0764 WHO-ART CUI
http://purl.bioontology.org/ontology/MEDDRA/10067196 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10067196 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10036197 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10083544 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10067196 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/Q82.5 ICD10CM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003919 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10036196 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10083301 MEDDRA CUI
http://purl.bioontology.org/ontology/CST/ANOMALY%20VASCUL COSTART CUI
http://purl.bioontology.org/ontology/SCTSPA/416377005 SCTSPA CUI
http://purl.bioontology.org/ontology/ICPC2P/S81003 ICPC2P CUI
http://purl.bioontology.org/ontology/WHOFRE/0764 WHOFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10067195 MDRGER CUI
http://identifiers.org/omim/163000 REXO LOOM
http://identifiers.org/omim/163000 GEXO LOOM
http://identifiers.org/omim/163000 RETO LOOM