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- NCIT_C3816 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is the most severe of a spectrum of disorders caused by mutations in the COL2A1 gene, characterized by short limbs, small chest and lungs, and abnormal ossification of the spine and pelvis. Often, infants die at birth or shortly thereafter." @default.
- NCIT_C3816 NCIT_NHC0 "C3816" @default.
- NCIT_C3816 NCIT_P106 "Congenital Abnormality" @default.
- NCIT_C3816 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C3816 NCIT_P108 "Type II Achondrogenesis" @default.
- NCIT_C3816 NCIT_P207 "C0220685" @default.
- NCIT_C3816 NCIT_P322 "Cellosaurus" @default.
- NCIT_C3816 NCIT_P366 "Type_II_Achondrogenesis" @default.
- NCIT_C3816 NCIT_R176 NCIT_C16612 @default.
- NCIT_C3816 NCIT_R176 NCIT_C20744 @default.
- NCIT_C3816 NCIT_R176 NCIT_C26000 @default.
- NCIT_C3816 NCIT_R176 NCIT_C26001 @default.
- NCIT_C3816 NCIT_R176 NCIT_C75315 @default.
- NCIT_C3816 normalizedInformationContent "100" @default.
- NCIT_C3816 referenceCount "1" @default.
- NCIT_C3816 hasExactSynonym "Achondrogenesis, Type II" @default.
- NCIT_C3816 hasExactSynonym "Hypochondrogenesis" @default.
- NCIT_C3816 hasExactSynonym "Langer-Saldino Achondrogenesis" @default.
- NCIT_C3816 hasExactSynonym "Type II Achondrogenesis" @default.
- NCIT_C3816 inSubset NCIT_C165258 @default.
- NCIT_C3816 inSubset NCIT_C192842 @default.
- NCIT_C3816 type Class @default.
- NCIT_C3816 isDefinedBy ncit.owl @default.
- NCIT_C3816 label "Type II Achondrogenesis" @default.
- NCIT_C3816 subClassOf B85d71c228d055336694aa480afe6360a @default.
- NCIT_C3816 subClassOf Bcfcabff03472a9277faff7647b28aba7 @default.
- NCIT_C3816 subClassOf NCIT_C2991 @default.
- NCIT_C3816 subClassOf NCIT_C3816 @default.
- NCIT_C3816 subClassOf NCIT_C4873 @default.
- NCIT_C3816 subClassOf NCIT_C53529 @default.
- NCIT_C3816 subClassOf NCIT_C53543 @default.
- NCIT_C3816 subClassOf NCIT_C53547 @default.
- NCIT_C3816 subClassOf NCIT_C7057 @default.
- NCIT_C3816 subClassOf NCIT_C84527 @default.