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- NCIT_C131187 IAO_0000115 "An autosomal recessive disorder caused by loss-of-function mutation(s) in the CTSK gene, encoding cathepsin K, an enzyme involved in bone resorption by osteoclasts. This condition is characterized by some or all of the following: osteosclerosis, short stature, pituitary hypoplasia with growth hormone deficiency, and cerebral demyelination." @default.
- NCIT_C131187 NCIT_NHC0 "C131187" @default.
- NCIT_C131187 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131187 NCIT_P108 "Pycnodysostosis" @default.
- NCIT_C131187 NCIT_P207 "C0238402" @default.
- NCIT_C131187 NCIT_P322 "NICHD" @default.
- NCIT_C131187 NCIT_P325 "An autosomal recessive disorder caused by loss-of-function mutation(s) in the CTSK gene, encoding cathepsin K, an enzyme involved in bone resorption by osteoclasts. This condition is characterized by some or all of the following: osteosclerosis, short stature, pituitary hypoplasia with growth hormone deficiency, and cerebral demyelination." @default.
- NCIT_C131187 NCIT_R176 NCIT_C16612 @default.
- NCIT_C131187 NCIT_R176 NCIT_C21281 @default.
- NCIT_C131187 NCIT_R176 NCIT_C25804 @default.
- NCIT_C131187 NCIT_R176 NCIT_C26003 @default.
- NCIT_C131187 NCIT_R176 NCIT_C28404 @default.
- NCIT_C131187 NCIT_R176 NCIT_C90320 @default.
- NCIT_C131187 normalizedInformationContent "100" @default.
- NCIT_C131187 referenceCount "1" @default.
- NCIT_C131187 hasExactSynonym "Pycnodysostosis" @default.
- NCIT_C131187 inSubset NCIT_C118467 @default.
- NCIT_C131187 inSubset NCIT_C90259 @default.
- NCIT_C131187 type Class @default.
- NCIT_C131187 isDefinedBy ncit.owl @default.
- NCIT_C131187 label "Pycnodysostosis" @default.
- NCIT_C131187 subClassOf B44bbed2bba42cb6351dc1f157a302640 @default.
- NCIT_C131187 subClassOf B68c8b342e843646376840d2f572d82b8 @default.
- NCIT_C131187 subClassOf NCIT_C131187 @default.
- NCIT_C131187 subClassOf NCIT_C27551 @default.
- NCIT_C131187 subClassOf NCIT_C27565 @default.
- NCIT_C131187 subClassOf NCIT_C2991 @default.
- NCIT_C131187 subClassOf NCIT_C3009 @default.
- NCIT_C131187 subClassOf NCIT_C53529 @default.
- NCIT_C131187 subClassOf NCIT_C53531 @default.
- NCIT_C131187 subClassOf NCIT_C7057 @default.