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- B7b59f0683045520085cc0d8e7b450167 NCIT_P378 "NCI" @default.
- B7b59f0683045520085cc0d8e7b450167 type Axiom @default.
- B7b59f0683045520085cc0d8e7b450167 annotatedProperty IAO_0000115 @default.
- B7b59f0683045520085cc0d8e7b450167 annotatedSource NCIT_C131007 @default.
- B7b59f0683045520085cc0d8e7b450167 annotatedTarget "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.