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- NCIT_C129733 IAO_0000115 "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration." @default.
- NCIT_C129733 NCIT_NHC0 "C129733" @default.
- NCIT_C129733 NCIT_P106 "Congenital Abnormality" @default.
- NCIT_C129733 NCIT_P108 "Autosomal Recessive Osteopetrosis" @default.
- NCIT_C129733 NCIT_P208 "CL513023" @default.
- NCIT_C129733 NCIT_P322 "Cellosaurus" @default.
- NCIT_C129733 NCIT_P322 "NICHD" @default.
- NCIT_C129733 NCIT_P325 "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration." @default.
- NCIT_C129733 NCIT_R100 NCIT_C12219 @default.
- NCIT_C129733 NCIT_R100 NCIT_C12366 @default.
- NCIT_C129733 NCIT_R100 NCIT_C12754 @default.
- NCIT_C129733 NCIT_R100 NCIT_C12801 @default.
- NCIT_C129733 NCIT_R100 NCIT_C12919 @default.
- NCIT_C129733 NCIT_R100 NCIT_C12964 @default.
- NCIT_C129733 NCIT_R100 NCIT_C25769 @default.
- NCIT_C129733 NCIT_R100 NCIT_C32221 @default.
- NCIT_C129733 NCIT_R100 NCIT_C34076 @default.
- NCIT_C129733 NCIT_R101 NCIT_C12219 @default.
- NCIT_C129733 NCIT_R101 NCIT_C12366 @default.
- NCIT_C129733 NCIT_R101 NCIT_C25769 @default.
- NCIT_C129733 NCIT_R101 NCIT_C32221 @default.
- NCIT_C129733 NCIT_R101 NCIT_C34076 @default.
- NCIT_C129733 NCIT_R103 NCIT_C12219 @default.
- NCIT_C129733 NCIT_R103 NCIT_C12801 @default.
- NCIT_C129733 NCIT_R103 NCIT_C12964 @default.
- NCIT_C129733 normalizedInformationContent "92.730304365937428" @default.
- NCIT_C129733 referenceCount "3" @default.
- NCIT_C129733 hasExactSynonym "Autosomal Recessive Osteopetrosis" @default.
- NCIT_C129733 hasExactSynonym "Malignant Osteopetrosis" @default.
- NCIT_C129733 inSubset NCIT_C118467 @default.
- NCIT_C129733 inSubset NCIT_C165258 @default.
- NCIT_C129733 inSubset NCIT_C192842 @default.
- NCIT_C129733 inSubset NCIT_C90259 @default.
- NCIT_C129733 type Class @default.
- NCIT_C129733 isDefinedBy ncit.owl @default.
- NCIT_C129733 label "Autosomal Recessive Osteopetrosis" @default.
- NCIT_C129733 subClassOf NCIT_C107377 @default.
- NCIT_C129733 subClassOf NCIT_C129733 @default.
- NCIT_C129733 subClassOf NCIT_C166355 @default.
- NCIT_C129733 subClassOf NCIT_C26326 @default.
- NCIT_C129733 subClassOf NCIT_C26729 @default.
- NCIT_C129733 subClassOf NCIT_C26840 @default.
- NCIT_C129733 subClassOf NCIT_C27551 @default.
- NCIT_C129733 subClassOf NCIT_C27572 @default.
- NCIT_C129733 subClassOf NCIT_C27574 @default.
- NCIT_C129733 subClassOf NCIT_C2991 @default.
- NCIT_C129733 subClassOf NCIT_C53529 @default.
- NCIT_C129733 subClassOf NCIT_C53531 @default.
- NCIT_C129733 subClassOf NCIT_C7057 @default.