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- NCIT_C4681 IAO_0000115 "A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. It is considered to be a mild variant of Roberts syndrome." @default.
- NCIT_C4681 NCIT_NHC0 "C4681" @default.
- NCIT_C4681 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C4681 NCIT_P108 "Roberts-SC Phocomelia Syndrome" @default.
- NCIT_C4681 NCIT_P207 "C0392475" @default.
- NCIT_C4681 NCIT_P322 "Cellosaurus" @default.
- NCIT_C4681 NCIT_P366 "Hypomelia_Hypotrichosis_Facial_Hemangioma_Syndrome" @default.
- NCIT_C4681 NCIT_R108 NCIT_C3367 @default.
- NCIT_C4681 NCIT_R108 NCIT_C3824 @default.
- NCIT_C4681 NCIT_R108 NCIT_C54062 @default.
- NCIT_C4681 NCIT_R108 NCIT_C7057 @default.
- NCIT_C4681 NCIT_R176 NCIT_C16612 @default.
- NCIT_C4681 NCIT_R176 NCIT_C191832 @default.
- NCIT_C4681 NCIT_R176 NCIT_C21281 @default.
- NCIT_C4681 NCIT_R176 NCIT_C25870 @default.
- NCIT_C4681 normalizedInformationContent "100" @default.
- NCIT_C4681 referenceCount "1" @default.
- NCIT_C4681 hasExactSynonym "Hypomelia Hypotrichosis Facial Hemangioma Syndrome" @default.
- NCIT_C4681 hasExactSynonym "Phocomelia-Pseudothalidomide Syndrome" @default.
- NCIT_C4681 hasExactSynonym "Pseudothalidomide Syndrome" @default.
- NCIT_C4681 hasExactSynonym "Roberts-SC Phocomelia Syndrome" @default.
- NCIT_C4681 hasExactSynonym "SC Phocomelia Syndrome" @default.
- NCIT_C4681 inSubset NCIT_C165258 @default.
- NCIT_C4681 inSubset NCIT_C192842 @default.
- NCIT_C4681 type Class @default.
- NCIT_C4681 isDefinedBy ncit.owl @default.
- NCIT_C4681 label "Roberts-SC Phocomelia Syndrome" @default.
- NCIT_C4681 subClassOf NCIT_C126326 @default.
- NCIT_C4681 subClassOf NCIT_C28193 @default.
- NCIT_C4681 subClassOf NCIT_C2991 @default.
- NCIT_C4681 subClassOf NCIT_C3101 @default.
- NCIT_C4681 subClassOf NCIT_C3266 @default.
- NCIT_C4681 subClassOf NCIT_C4681 @default.
- NCIT_C4681 subClassOf NCIT_C4873 @default.
- NCIT_C4681 subClassOf NCIT_C53529 @default.
- NCIT_C4681 subClassOf NCIT_C53543 @default.
- NCIT_C4681 subClassOf NCIT_C53547 @default.
- NCIT_C4681 subClassOf NCIT_C54705 @default.
- NCIT_C4681 subClassOf NCIT_C7057 @default.