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- NCIT_C129978 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the GNPTAG gene, encoding N-acetylglucosamine-1-phosphotransferase subunit gamma. It is characterized by a slowing of the growth rate in childhood, joint stiffness, mild cognitive impairment, and cardiorespiratory insufficiency." @default.
- NCIT_C129978 NCIT_NHC0 "C129978" @default.
- NCIT_C129978 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129978 NCIT_P108 "Mucolipidosis Type III Gamma" @default.
- NCIT_C129978 NCIT_P207 "C1854896" @default.
- NCIT_C129978 NCIT_P322 "Cellosaurus" @default.
- NCIT_C129978 normalizedInformationContent "100" @default.
- NCIT_C129978 referenceCount "1" @default.
- NCIT_C129978 hasExactSynonym "Mucolipidosis III Gamma" @default.
- NCIT_C129978 hasExactSynonym "Mucolipidosis Type III Gamma" @default.
- NCIT_C129978 inSubset NCIT_C165258 @default.
- NCIT_C129978 inSubset NCIT_C192842 @default.
- NCIT_C129978 type Class @default.
- NCIT_C129978 isDefinedBy ncit.owl @default.
- NCIT_C129978 label "Mucolipidosis Type III Gamma" @default.
- NCIT_C129978 subClassOf NCIT_C129978 @default.
- NCIT_C129978 subClassOf NCIT_C2991 @default.
- NCIT_C129978 subClassOf NCIT_C3235 @default.
- NCIT_C129978 subClassOf NCIT_C34816 @default.
- NCIT_C129978 subClassOf NCIT_C4873 @default.
- NCIT_C129978 subClassOf NCIT_C53529 @default.
- NCIT_C129978 subClassOf NCIT_C53543 @default.
- NCIT_C129978 subClassOf NCIT_C53547 @default.
- NCIT_C129978 subClassOf NCIT_C61250 @default.
- NCIT_C129978 subClassOf NCIT_C61267 @default.
- NCIT_C129978 subClassOf NCIT_C7057 @default.