Capillary malformation-arteriovenous malformation 1

Preferred Label : Capillary malformation-arteriovenous malformation 1;

Symbol : CMAVM1;

CISMeF acronym : CMAVM; CMAVM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CMAVM; Capillary malformation-arteriovenous malformation;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RAS p21 protein activator 1 gene (RASA1, 139150.0004);

Prefixed ID : #608354;

Details

Origin ID

608354;

UMLS CUI

C4747394;

Automatic exact mappings (from CISMeF team)
- RAS p21 protein activator 1 [ORDO Gene]
- RAS p21 protein activator 1 [HGNC gene]
- RASA1 wt Allele [NCIt concept]
- capillary malformation without arteriovenous malformation [MeSH concept]
Currated CISMeF NLP mapping
- Capillary Malformation-Arteriovenous Malformation Syndrome [NCIt concept]
- Capillary malformation-arteriovenous malformation [ICD-11 More detail]
- Capillary malformation-arteriovenous malformation [ORDO Disease]
- Capillary malformation-arteriovenous malformation syndrome (disorder) [SNOMED CT concept]
- capillary Malformation-Arteriovenous malformation [MeSH concept]
- capillary Malformation-Arteriovenous malformation [MeSH Supplementary Concept]
Genes related to phenotype
- Ras p21 protein activator 1 [OMIM gene]
HPO term(s)
- Arteriovenous fistula [HPO term]
- Arteriovenous malformation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Capillary hemangioma [HPO term]
- Capillary malformation [HPO term]
ORDO concept(s)
- Angioosteohypertrophic syndrome [ORDO Disease]
- Capillary malformation-arteriovenous malformation [ORDO Disease]
- Parkes Weber syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Capillary malformation-arteriovenous malformation [ORDO Disease]
- Capillary malformation-arteriovenous malformation syndrome (disorder) [SNOMED CT concept]
- capillary Malformation-Arteriovenous malformation [MeSH Supplementary Concept]
- capillary Malformation-Arteriovenous malformation [MeSH concept]

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