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- NCIT_C192098 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the STAMBP gene, encoding STAM-binding protein. It is characterized by severe microcephaly, diffuse cutaneous capillary malformations, refractory epilepsy, and developmental delay." @default.
- NCIT_C192098 NCIT_NHC0 "C192098" @default.
- NCIT_C192098 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C192098 NCIT_P108 "Microcephaly-Capillary Malformation Syndrome" @default.
- NCIT_C192098 NCIT_P207 "C3280296" @default.
- NCIT_C192098 NCIT_P322 "Cellosaurus" @default.
- NCIT_C192098 NCIT_R100 NCIT_C12219 @default.
- NCIT_C192098 NCIT_R100 NCIT_C12686 @default.
- NCIT_C192098 NCIT_R100 NCIT_C12919 @default.
- NCIT_C192098 NCIT_R100 NCIT_C25762 @default.
- NCIT_C192098 NCIT_R100 NCIT_C32221 @default.
- NCIT_C192098 NCIT_R100 NCIT_C33854 @default.
- NCIT_C192098 NCIT_R176 NCIT_C16612 @default.
- NCIT_C192098 NCIT_R176 NCIT_C21275 @default.
- NCIT_C192098 NCIT_R176 NCIT_C21281 @default.
- NCIT_C192098 NCIT_R176 NCIT_C21319 @default.
- NCIT_C192098 NCIT_R176 NCIT_C25804 @default.
- NCIT_C192098 NCIT_R176 NCIT_C26003 @default.
- NCIT_C192098 normalizedInformationContent "100" @default.
- NCIT_C192098 referenceCount "1" @default.
- NCIT_C192098 hasExactSynonym "MICCAP" @default.
- NCIT_C192098 hasExactSynonym "Microcephaly-Capillary Malformation Syndrome" @default.
- NCIT_C192098 inSubset NCIT_C165258 @default.
- NCIT_C192098 inSubset NCIT_C192842 @default.
- NCIT_C192098 type Class @default.
- NCIT_C192098 isDefinedBy ncit.owl @default.
- NCIT_C192098 label "Microcephaly-Capillary Malformation Syndrome" @default.
- NCIT_C192098 subClassOf B2e3813e15ace516253686a095b5b2bda @default.
- NCIT_C192098 subClassOf Ba7c9735522981a613f8b160d1c83f5ea @default.
- NCIT_C192098 subClassOf NCIT_C192098 @default.
- NCIT_C192098 subClassOf NCIT_C197892 @default.
- NCIT_C192098 subClassOf NCIT_C27551 @default.
- NCIT_C192098 subClassOf NCIT_C27672 @default.
- NCIT_C192098 subClassOf NCIT_C28193 @default.
- NCIT_C192098 subClassOf NCIT_C2931 @default.
- NCIT_C192098 subClassOf NCIT_C2991 @default.
- NCIT_C192098 subClassOf NCIT_C35117 @default.
- NCIT_C192098 subClassOf NCIT_C35740 @default.
- NCIT_C192098 subClassOf NCIT_C53529 @default.
- NCIT_C192098 subClassOf NCIT_C53531 @default.
- NCIT_C192098 subClassOf NCIT_C7057 @default.