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- NCIT_C129732 IAO_0000115 "An autosomal dominant form of osteopetrosis due to mutation(s) in the CLCN7 gene, encoding H(+)/Cl(-) exchange transporter 7. Clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. Complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. One third of individuals who carry a CLCN7 mutation have a normal skeletal phenotype." @default.
- NCIT_C129732 NCIT_A13 NCIT_C105877 @default.
- NCIT_C129732 NCIT_NHC0 "C129732" @default.
- NCIT_C129732 NCIT_P106 "Congenital Abnormality" @default.
- NCIT_C129732 NCIT_P108 "Autosomal Dominant Osteopetrosis" @default.
- NCIT_C129732 NCIT_P207 "C3179239" @default.
- NCIT_C129732 NCIT_P322 "NICHD" @default.
- NCIT_C129732 NCIT_P325 "An autosomal dominant form of osteopetrosis due to mutation(s) in the CLCN7 gene, encoding H(+)/Cl(-) exchange transporter 7. Clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. Complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. One third of individuals who carry a CLCN7 mutation have a normal skeletal phenotype." @default.
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- NCIT_C129732 normalizedInformationContent "100" @default.
- NCIT_C129732 referenceCount "1" @default.
- NCIT_C129732 hasExactSynonym "Albers-Schonberg Disease" @default.
- NCIT_C129732 hasExactSynonym "Autosomal Dominant Osteopetrosis Type 2" @default.
- NCIT_C129732 hasExactSynonym "Autosomal Dominant Osteopetrosis" @default.
- NCIT_C129732 hasExactSynonym "Benign Osteopetrosis" @default.
- NCIT_C129732 hasExactSynonym "Marble Bone Disease" @default.
- NCIT_C129732 inSubset NCIT_C118467 @default.
- NCIT_C129732 inSubset NCIT_C90259 @default.
- NCIT_C129732 type Class @default.
- NCIT_C129732 isDefinedBy ncit.owl @default.
- NCIT_C129732 label "Autosomal Dominant Osteopetrosis" @default.
- NCIT_C129732 subClassOf B5e432182a04826713d3ec63ba0ea0052 @default.
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- NCIT_C129732 subClassOf NCIT_C7057 @default.