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- NCIT_C118434 IAO_0000115 "A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism." @default.
- NCIT_C118434 NCIT_NHC0 "C118434" @default.
- NCIT_C118434 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C118434 NCIT_P108 "Albright's Hereditary Osteodystrophy" @default.
- NCIT_C118434 NCIT_P207 "C2931404" @default.
- NCIT_C118434 NCIT_P322 "Cellosaurus" @default.
- NCIT_C118434 NCIT_P322 "NICHD" @default.
- NCIT_C118434 NCIT_P325 "Generalized osteodystrophy associated with heterozygous inactivating mutation(s) in the GNAS gene encoding guanine nucleotide-binding protein, alpha-stimulating (Gs-alpha), characterized by short stature, subcutaneous ossification, and skeletal anomalies. If the mutation is on the paternal allele, hormone resistance is absent. If the mutation is on the maternal allele, hormone resistance is present." @default.
- NCIT_C118434 NCIT_R176 NCIT_C16612 @default.
- NCIT_C118434 NCIT_R176 NCIT_C20921 @default.
- NCIT_C118434 NCIT_R176 NCIT_C26191 @default.
- NCIT_C118434 NCIT_R176 NCIT_C38317 @default.
- NCIT_C118434 normalizedInformationContent "92.730304365937428" @default.
- NCIT_C118434 referenceCount "3" @default.
- NCIT_C118434 hasExactSynonym "Albright Hereditary Osteodystrophy" @default.
- NCIT_C118434 hasExactSynonym "Albright's Hereditary Osteodystrophy with Multiple Hormone Resistance" @default.
- NCIT_C118434 hasExactSynonym "Albright's Hereditary Osteodystrophy" @default.
- NCIT_C118434 hasExactSynonym "PHP1A" @default.
- NCIT_C118434 hasExactSynonym "Pseudohypoparathyroidism, Type IA" @default.
- NCIT_C118434 inSubset NCIT_C118467 @default.
- NCIT_C118434 inSubset NCIT_C165258 @default.
- NCIT_C118434 inSubset NCIT_C192842 @default.
- NCIT_C118434 inSubset NCIT_C90259 @default.
- NCIT_C118434 type Class @default.
- NCIT_C118434 isDefinedBy ncit.owl @default.
- NCIT_C118434 label "Albright's Hereditary Osteodystrophy" @default.
- NCIT_C118434 subClassOf Bacfe6be27a69d2776d2341deeb8eda84 @default.
- NCIT_C118434 subClassOf Bdc5cb2ae2473d43b89fcde2f6e06ef4d @default.
- NCIT_C118434 subClassOf NCIT_C118434 @default.
- NCIT_C118434 subClassOf NCIT_C28193 @default.
- NCIT_C118434 subClassOf NCIT_C2991 @default.
- NCIT_C118434 subClassOf NCIT_C4873 @default.
- NCIT_C118434 subClassOf NCIT_C53529 @default.
- NCIT_C118434 subClassOf NCIT_C53543 @default.
- NCIT_C118434 subClassOf NCIT_C53547 @default.
- NCIT_C118434 subClassOf NCIT_C7057 @default.