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- Be82b55652dae8364434e2c6e9dc53019 NCIT_P378 "NCI" @default.
- Be82b55652dae8364434e2c6e9dc53019 type Axiom @default.
- Be82b55652dae8364434e2c6e9dc53019 annotatedProperty IAO_0000115 @default.
- Be82b55652dae8364434e2c6e9dc53019 annotatedSource NCIT_C135087 @default.
- Be82b55652dae8364434e2c6e9dc53019 annotatedTarget "An autosomal recessive condition caused by mutation(s) in the SMARCAL1 gene, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1. It is characterized by short stature, intrauterine growth restriction, microdontia, depressed nasal bridge, skeletal dysplasia, immune complex nephritis and immune deficiency." @default.