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- NCIT_C120113 IAO_0000115 "A rare genetic deficiency characterized by mutations in the SHOX gene and reduced expression or function of the SHOX protein. It results in the disruption of normal bone development and growth starting before birth. It manifests with skeletal abnormalities and short stature." @default.
- NCIT_C120113 NCIT_NHC0 "C120113" @default.
- NCIT_C120113 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C120113 NCIT_P108 "Short Stature Homeobox Deficiency" @default.
- NCIT_C120113 NCIT_P207 "C3897045" @default.
- NCIT_C120113 NCIT_P322 "NICHD" @default.
- NCIT_C120113 NCIT_P325 "A skeletal dysplasia due to mutation(s) in the promoter or coding regions of the SHOX gene, located in the pseudoautosomal regions of the X and Y chromosomes, and encoding short stature homeobox protein. This condition may result in reduced expression or function of the SHOX protein. The severity of the clinical features is dependent upon whether one or both copies of the gene are affected." @default.
- NCIT_C120113 NCIT_R176 NCIT_C16612 @default.
- NCIT_C120113 NCIT_R176 NCIT_C20917 @default.
- NCIT_C120113 NCIT_R176 NCIT_C75403 @default.
- NCIT_C120113 normalizedInformationContent "100" @default.
- NCIT_C120113 referenceCount "1" @default.
- NCIT_C120113 hasExactSynonym "SHOX Deficiency" @default.
- NCIT_C120113 hasExactSynonym "Short Stature Homeobox Deficiency" @default.
- NCIT_C120113 inSubset NCIT_C118467 @default.
- NCIT_C120113 inSubset NCIT_C90259 @default.
- NCIT_C120113 type Class @default.
- NCIT_C120113 isDefinedBy ncit.owl @default.
- NCIT_C120113 label "Short Stature Homeobox Deficiency" @default.
- NCIT_C120113 subClassOf B8cc32c539c7a8d1fc145e46ede98a97d @default.
- NCIT_C120113 subClassOf Be69eddea4dd7464114dd4f95f90f326f @default.
- NCIT_C120113 subClassOf NCIT_C120113 @default.
- NCIT_C120113 subClassOf NCIT_C2991 @default.
- NCIT_C120113 subClassOf NCIT_C3101 @default.
- NCIT_C120113 subClassOf NCIT_C4873 @default.
- NCIT_C120113 subClassOf NCIT_C53529 @default.
- NCIT_C120113 subClassOf NCIT_C53543 @default.
- NCIT_C120113 subClassOf NCIT_C53547 @default.
- NCIT_C120113 subClassOf NCIT_C7057 @default.