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- NCIT_C157124 IAO_0000115 "An autosomal dominant condition caused by mutation(s) and or deletion of the SHANK3 gene, encoding SH3 and multiple ankyrin repeat domains protein 3. It is characterized by variable features, which may include intellectual disability, autism spectrum disorder, developmental delay and mild dysmorphic features." @default.
- NCIT_C157124 NCIT_NHC0 "C157124" @default.
- NCIT_C157124 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C157124 NCIT_P108 "Phelan-McDermid Syndrome" @default.
- NCIT_C157124 NCIT_P207 "C4048800" @default.
- NCIT_C157124 NCIT_P322 "Cellosaurus" @default.
- NCIT_C157124 NCIT_R174 NCIT_C12219 @default.
- NCIT_C157124 NCIT_R174 NCIT_C13202 @default.
- NCIT_C157124 NCIT_R174 NCIT_C13203 @default.
- NCIT_C157124 NCIT_R174 NCIT_C13218 @default.
- NCIT_C157124 NCIT_R174 NCIT_C13404 @default.
- NCIT_C157124 NCIT_R174 NCIT_C14134 @default.
- NCIT_C157124 NCIT_R174 NCIT_C21599 @default.
- NCIT_C157124 NCIT_R176 NCIT_C16612 @default.
- NCIT_C157124 NCIT_R176 NCIT_C20921 @default.
- NCIT_C157124 NCIT_R176 NCIT_C75396 @default.
- NCIT_C157124 normalizedInformationContent "100" @default.
- NCIT_C157124 referenceCount "1" @default.
- NCIT_C157124 hasExactSynonym "Chromosome 22q13.3 Deletion Syndrome" @default.
- NCIT_C157124 hasExactSynonym "PHMDS" @default.
- NCIT_C157124 hasExactSynonym "Phelan-McDermid Syndrome" @default.
- NCIT_C157124 inSubset NCIT_C165258 @default.
- NCIT_C157124 inSubset NCIT_C192842 @default.
- NCIT_C157124 type Class @default.
- NCIT_C157124 isDefinedBy ncit.owl @default.
- NCIT_C157124 label "Phelan-McDermid Syndrome" @default.
- NCIT_C157124 subClassOf B4fe6e4d964d8d5b5798059aa867924d4 @default.
- NCIT_C157124 subClassOf Ba248d56ad6a98d5d97b99da38286539e @default.
- NCIT_C157124 subClassOf Baec8de09638e731c3c606cf527604468 @default.
- NCIT_C157124 subClassOf Bd5ed67064f15f23b681de77e5c75128e @default.
- NCIT_C157124 subClassOf NCIT_C157124 @default.
- NCIT_C157124 subClassOf NCIT_C2991 @default.
- NCIT_C157124 subClassOf NCIT_C4873 @default.
- NCIT_C157124 subClassOf NCIT_C53529 @default.
- NCIT_C157124 subClassOf NCIT_C53543 @default.
- NCIT_C157124 subClassOf NCIT_C53547 @default.
- NCIT_C157124 subClassOf NCIT_C7057 @default.