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- NCIT_C129722 IAO_0000115 "A condition caused by inactivating mutation(s) in the paternal allele of the GNAS gene, encoding Gs-alpha, resulting in expression of the Gs-alpha protein from only the maternal allele. Affected individuals have the clinical phenotype of Albright hereditary osteodystrophy without hormone resistance." @default.
- NCIT_C129722 NCIT_NHC0 "C129722" @default.
- NCIT_C129722 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129722 NCIT_P108 "Albright Hereditary Osteodystrophy without Multiple Hormone Resistance" @default.
- NCIT_C129722 NCIT_P207 "C0033835" @default.
- NCIT_C129722 NCIT_P322 "NICHD" @default.
- NCIT_C129722 NCIT_P325 "A condition caused by inactivating mutation(s) in the paternal allele of the GNAS gene, encoding Gs-alpha, resulting in expression of the Gs-alpha protein from only the maternal allele. Affected individuals have the clinical phenotype of Albright hereditary osteodystrophy without hormone resistance." @default.
- NCIT_C129722 NCIT_R176 NCIT_C16612 @default.
- NCIT_C129722 NCIT_R176 NCIT_C20921 @default.
- NCIT_C129722 NCIT_R176 NCIT_C26191 @default.
- NCIT_C129722 NCIT_R176 NCIT_C38317 @default.
- NCIT_C129722 normalizedInformationContent "100" @default.
- NCIT_C129722 referenceCount "1" @default.
- NCIT_C129722 hasExactSynonym "Albright Hereditary Osteodystrophy with Multiple Hormone Resistance" @default.
- NCIT_C129722 hasExactSynonym "Albright Hereditary Osteodystrophy without Multiple Hormone Resistance" @default.
- NCIT_C129722 hasExactSynonym "PPHP" @default.
- NCIT_C129722 hasExactSynonym "Pseudopseudohypoparathyroidism" @default.
- NCIT_C129722 inSubset NCIT_C118467 @default.
- NCIT_C129722 inSubset NCIT_C90259 @default.
- NCIT_C129722 type Class @default.
- NCIT_C129722 isDefinedBy ncit.owl @default.
- NCIT_C129722 label "Albright Hereditary Osteodystrophy without Multiple Hormone Resistance" @default.
- NCIT_C129722 subClassOf NCIT_C118434 @default.
- NCIT_C129722 subClassOf NCIT_C129722 @default.
- NCIT_C129722 subClassOf NCIT_C28193 @default.
- NCIT_C129722 subClassOf NCIT_C2991 @default.
- NCIT_C129722 subClassOf NCIT_C4873 @default.
- NCIT_C129722 subClassOf NCIT_C53529 @default.
- NCIT_C129722 subClassOf NCIT_C53543 @default.
- NCIT_C129722 subClassOf NCIT_C53547 @default.
- NCIT_C129722 subClassOf NCIT_C7057 @default.