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- NCIT_C179668 IAO_0000115 "An autosomal dominant inherited vascular disorder associated with loss of function mutations in the RASA1 or EPHB4 gene, encoding Ras GTPase-activating protein 1 or ephrin type-B receptor 4, respectively. It is characterized by cutaneous capillary malformations, often in association with arteriovenous malformations and arteriovenous fistulas, which may lead to abnormal bleeding, migraine headaches, seizures, and heart failure." @default.
- NCIT_C179668 NCIT_A13 NCIT_C113830 @default.
- NCIT_C179668 NCIT_A13 NCIT_C91775 @default.
- NCIT_C179668 NCIT_NHC0 "C179668" @default.
- NCIT_C179668 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C179668 NCIT_P107 "Capillary Malformation-Arteriovenous Malformation Syndrome" @default.
- NCIT_C179668 NCIT_P108 "Capillary Malformation-Arteriovenous Malformation Syndrome" @default.
- NCIT_C179668 NCIT_P207 "C1842180" @default.
- NCIT_C179668 NCIT_P322 "CTRP" @default.
- NCIT_C179668 NCIT_R100 NCIT_C12219 @default.
- NCIT_C179668 NCIT_R100 NCIT_C12686 @default.
- NCIT_C179668 NCIT_R100 NCIT_C12919 @default.
- NCIT_C179668 NCIT_R100 NCIT_C25762 @default.
- NCIT_C179668 NCIT_R100 NCIT_C32221 @default.
- NCIT_C179668 NCIT_R100 NCIT_C33854 @default.
- NCIT_C179668 normalizedInformationContent "100" @default.
- NCIT_C179668 referenceCount "1" @default.
- NCIT_C179668 hasExactSynonym "CM-AVM" @default.
- NCIT_C179668 hasExactSynonym "Capillary Malformation-Arteriovenous Malformation Syndrome" @default.
- NCIT_C179668 hasExactSynonym "Capillary Malformation-Arteriovenous Malformation" @default.
- NCIT_C179668 inSubset NCIT_C116977 @default.
- NCIT_C179668 inSubset NCIT_C118168 @default.
- NCIT_C179668 type Class @default.
- NCIT_C179668 isDefinedBy ncit.owl @default.
- NCIT_C179668 label "Capillary Malformation-Arteriovenous Malformation Syndrome" @default.
- NCIT_C179668 subClassOf NCIT_C179667 @default.
- NCIT_C179668 subClassOf NCIT_C179668 @default.
- NCIT_C179668 subClassOf NCIT_C197892 @default.
- NCIT_C179668 subClassOf NCIT_C27551 @default.
- NCIT_C179668 subClassOf NCIT_C27672 @default.
- NCIT_C179668 subClassOf NCIT_C28193 @default.
- NCIT_C179668 subClassOf NCIT_C2931 @default.
- NCIT_C179668 subClassOf NCIT_C2991 @default.
- NCIT_C179668 subClassOf NCIT_C3101 @default.
- NCIT_C179668 subClassOf NCIT_C35117 @default.
- NCIT_C179668 subClassOf NCIT_C35740 @default.
- NCIT_C179668 subClassOf NCIT_C53529 @default.
- NCIT_C179668 subClassOf NCIT_C53531 @default.
- NCIT_C179668 subClassOf NCIT_C7057 @default.