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- NCIT_C122654 IAO_0000115 "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia." @default.
- NCIT_C122654 NCIT_A13 NCIT_C132116 @default.
- NCIT_C122654 NCIT_NHC0 "C122654" @default.
- NCIT_C122654 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C122654 NCIT_P108 "Short-Rib Thoracic Dysplasia 6 with or without Polydactyly" @default.
- NCIT_C122654 NCIT_P207 "C0024507" @default.
- NCIT_C122654 NCIT_P322 "Cellosaurus" @default.
- NCIT_C122654 NCIT_R176 NCIT_C132116 @default.
- NCIT_C122654 NCIT_R176 NCIT_C16612 @default.
- NCIT_C122654 NCIT_R176 NCIT_C21281 @default.
- NCIT_C122654 NCIT_R176 NCIT_C25870 @default.
- NCIT_C122654 NCIT_R176 NCIT_C25871 @default.
- NCIT_C122654 NCIT_R176 NCIT_C25872 @default.
- NCIT_C122654 NCIT_R176 NCIT_C25873 @default.
- NCIT_C122654 normalizedInformationContent "100" @default.
- NCIT_C122654 referenceCount "1" @default.
- NCIT_C122654 hasExactSynonym "Majewski Syndrome" @default.
- NCIT_C122654 hasExactSynonym "Polydactyly with Neonatal Chondrodystrophy Type II" @default.
- NCIT_C122654 hasExactSynonym "Short Rib-Polydactyly Syndrome Type II" @default.
- NCIT_C122654 hasExactSynonym "Short-Rib Thoracic Dysplasia 6 with or without Polydactyly" @default.
- NCIT_C122654 inSubset NCIT_C165258 @default.
- NCIT_C122654 inSubset NCIT_C192842 @default.
- NCIT_C122654 type Class @default.
- NCIT_C122654 isDefinedBy ncit.owl @default.
- NCIT_C122654 label "Short-Rib Thoracic Dysplasia 6 with or without Polydactyly" @default.
- NCIT_C122654 subClassOf B5c58f073cd0127113b6f5e6396ffe8c1 @default.
- NCIT_C122654 subClassOf Ba08aef152991ec32dc0ecf4bf9a665f9 @default.
- NCIT_C122654 subClassOf NCIT_C122654 @default.
- NCIT_C122654 subClassOf NCIT_C28193 @default.
- NCIT_C122654 subClassOf NCIT_C2991 @default.
- NCIT_C122654 subClassOf NCIT_C4873 @default.
- NCIT_C122654 subClassOf NCIT_C53529 @default.
- NCIT_C122654 subClassOf NCIT_C53543 @default.
- NCIT_C122654 subClassOf NCIT_C53547 @default.
- NCIT_C122654 subClassOf NCIT_C7057 @default.
- NCIT_C122654 subClassOf NCIT_C85065 @default.