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- NCIT_C129031 IAO_0000115 "A rare disorder characterized by severe short stature, lumbar lordosis, midface hypoplasia, micromelia, frontal bossing, epiphyseal and metaphyseal abnormalities. The inheritance is autosomal recessive." @default.
- NCIT_C129031 NCIT_NHC0 "C129031" @default.
- NCIT_C129031 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129031 NCIT_P108 "Spondyloepimetaphyseal Dysplasia, Sponastrime Type" @default.
- NCIT_C129031 NCIT_P207 "C1300260" @default.
- NCIT_C129031 NCIT_P322 "Cellosaurus" @default.
- NCIT_C129031 NCIT_R176 NCIT_C16612 @default.
- NCIT_C129031 NCIT_R176 NCIT_C191804 @default.
- NCIT_C129031 NCIT_R176 NCIT_C19676 @default.
- NCIT_C129031 normalizedInformationContent "100" @default.
- NCIT_C129031 referenceCount "1" @default.
- NCIT_C129031 hasExactSynonym "Short-Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation" @default.
- NCIT_C129031 hasExactSynonym "Sponastrime Dysplasia" @default.
- NCIT_C129031 hasExactSynonym "Spondyloepimetaphyseal Dysplasia, Sponastrime Type" @default.
- NCIT_C129031 inSubset NCIT_C165258 @default.
- NCIT_C129031 inSubset NCIT_C192842 @default.
- NCIT_C129031 type Class @default.
- NCIT_C129031 isDefinedBy ncit.owl @default.
- NCIT_C129031 label "Spondyloepimetaphyseal Dysplasia, Sponastrime Type" @default.
- NCIT_C129031 subClassOf Bbdbc5228129d24e053fc5b7a4bc26271 @default.
- NCIT_C129031 subClassOf Bfe86f5d197cbefc72e9a5721a72da2cc @default.
- NCIT_C129031 subClassOf NCIT_C129031 @default.
- NCIT_C129031 subClassOf NCIT_C2991 @default.
- NCIT_C129031 subClassOf NCIT_C4873 @default.
- NCIT_C129031 subClassOf NCIT_C53529 @default.
- NCIT_C129031 subClassOf NCIT_C53543 @default.
- NCIT_C129031 subClassOf NCIT_C53547 @default.
- NCIT_C129031 subClassOf NCIT_C7057 @default.