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- NCIT_C131007 IAO_0000115 "A rare, autosomal recessive condition caused by mutation(s) in the EIF2AK3 gene, which encodes translation initiation factor 2-alpha kinase-3. The condition is characterized by the following: permanent insulin-dependent diabetes, with onset in the neonatal period or infancy; epiphyseal dysplasia; deficient bone mineralization, diagnosed in the first year or two of life; and liver dysfunction, occurring in early childhood. Other features may include intellectual deficit, hypothyroidism, renal dysfunction, neutropenia, and thyroid dysfunction. The manifestations and clinical course are variable." @default.
- NCIT_C131007 NCIT_A13 NCIT_C102827 @default.
- NCIT_C131007 NCIT_NHC0 "C131007" @default.
- NCIT_C131007 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131007 NCIT_P108 "Wolcott-Rallison Syndrome" @default.
- NCIT_C131007 NCIT_P207 "C0432217" @default.
- NCIT_C131007 NCIT_P322 "NICHD" @default.
- NCIT_C131007 NCIT_P325 "A rare, autosomal recessive condition caused by mutation(s) in the EIF2AK3 gene, which encodes translation initiation factor 2-alpha kinase-3. The condition is characterized by the following: permanent insulin-dependent diabetes, with onset in the neonatal period or infancy; epiphyseal dysplasia; deficient bone mineralization, diagnosed in the first year or two of life; and liver dysfunction, occurring in early childhood. Other features may include intellectual deficit, hypothyroidism, renal dysfunction, neutropenia, and thyroid dysfunction. The manifestations and clinical course are variable." @default.
- NCIT_C131007 NCIT_R176 NCIT_C102827 @default.
- NCIT_C131007 NCIT_R176 NCIT_C16612 @default.
- NCIT_C131007 NCIT_R176 NCIT_C21281 @default.
- NCIT_C131007 NCIT_R176 NCIT_C25870 @default.
- NCIT_C131007 NCIT_R176 NCIT_C25871 @default.
- NCIT_C131007 NCIT_R176 NCIT_C25872 @default.
- NCIT_C131007 NCIT_R176 NCIT_C25873 @default.
- NCIT_C131007 normalizedInformationContent "100" @default.
- NCIT_C131007 referenceCount "1" @default.
- NCIT_C131007 hasExactSynonym "Wolcott-Rallison Syndrome" @default.
- NCIT_C131007 inSubset NCIT_C118467 @default.
- NCIT_C131007 inSubset NCIT_C90259 @default.
- NCIT_C131007 type Class @default.
- NCIT_C131007 isDefinedBy ncit.owl @default.
- NCIT_C131007 label "Wolcott-Rallison Syndrome" @default.
- NCIT_C131007 subClassOf Ba43a052e39e7092467e2c82d925b271a @default.
- NCIT_C131007 subClassOf Bf5f126ea9e6cbfdcc0c0de5118908949 @default.
- NCIT_C131007 subClassOf NCIT_C131007 @default.
- NCIT_C131007 subClassOf NCIT_C28193 @default.
- NCIT_C131007 subClassOf NCIT_C2991 @default.
- NCIT_C131007 subClassOf NCIT_C7057 @default.