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- NCIT_C164153 IAO_0000115 "An X-linked recessive sub-type of osteogenesis imperfecta caused by mutation(s) in the MBTPS2 gene, encoding membrane-bound transcription factor site-2 protease. It is characterized by prenatal fractures and osteopenia, with severe short stature in adulthood. Variable dysmorphic features may occur including scoliosis, pectal deformity, and anterior angulation of the tibia." @default.
- NCIT_C164153 NCIT_NHC0 "C164153" @default.
- NCIT_C164153 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C164153 NCIT_P108 "Osteogenesis Imperfecta Type XIX" @default.
- NCIT_C164153 NCIT_P208 "CL966290" @default.
- NCIT_C164153 NCIT_P322 "Cellosaurus" @default.
- NCIT_C164153 NCIT_R100 NCIT_C12219 @default.
- NCIT_C164153 NCIT_R100 NCIT_C12366 @default.
- NCIT_C164153 NCIT_R100 NCIT_C12754 @default.
- NCIT_C164153 NCIT_R100 NCIT_C12801 @default.
- NCIT_C164153 NCIT_R100 NCIT_C12919 @default.
- NCIT_C164153 NCIT_R100 NCIT_C12964 @default.
- NCIT_C164153 NCIT_R100 NCIT_C25769 @default.
- NCIT_C164153 NCIT_R100 NCIT_C32221 @default.
- NCIT_C164153 NCIT_R100 NCIT_C34076 @default.
- NCIT_C164153 NCIT_R101 NCIT_C12219 @default.
- NCIT_C164153 NCIT_R101 NCIT_C12366 @default.
- NCIT_C164153 NCIT_R101 NCIT_C25769 @default.
- NCIT_C164153 NCIT_R101 NCIT_C32221 @default.
- NCIT_C164153 NCIT_R101 NCIT_C34076 @default.
- NCIT_C164153 NCIT_R103 NCIT_C12219 @default.
- NCIT_C164153 NCIT_R103 NCIT_C12801 @default.
- NCIT_C164153 NCIT_R103 NCIT_C12964 @default.
- NCIT_C164153 normalizedInformationContent "100" @default.
- NCIT_C164153 referenceCount "1" @default.
- NCIT_C164153 hasExactSynonym "OI19" @default.
- NCIT_C164153 hasExactSynonym "Osteogenesis Imperfecta Type XIX" @default.
- NCIT_C164153 inSubset NCIT_C165258 @default.
- NCIT_C164153 inSubset NCIT_C192842 @default.
- NCIT_C164153 type Class @default.
- NCIT_C164153 isDefinedBy ncit.owl @default.
- NCIT_C164153 label "Osteogenesis Imperfecta Type XIX" @default.
- NCIT_C164153 subClassOf NCIT_C107377 @default.
- NCIT_C164153 subClassOf NCIT_C164153 @default.
- NCIT_C164153 subClassOf NCIT_C166355 @default.
- NCIT_C164153 subClassOf NCIT_C26326 @default.
- NCIT_C164153 subClassOf NCIT_C26729 @default.
- NCIT_C164153 subClassOf NCIT_C26837 @default.
- NCIT_C164153 subClassOf NCIT_C27551 @default.
- NCIT_C164153 subClassOf NCIT_C27572 @default.
- NCIT_C164153 subClassOf NCIT_C27574 @default.
- NCIT_C164153 subClassOf NCIT_C2991 @default.
- NCIT_C164153 subClassOf NCIT_C53529 @default.
- NCIT_C164153 subClassOf NCIT_C53531 @default.
- NCIT_C164153 subClassOf NCIT_C7057 @default.
- NCIT_C164153 subClassOf NCIT_C75471 @default.
- NCIT_C164153 subClassOf NCIT_C97075 @default.