Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bfe2f9792ecb1e8ed7f88ec2842e20368> ?p ?o ?g. }
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- Bfe2f9792ecb1e8ed7f88ec2842e20368 hasDbXref "Orphanet:261257" @default.
- Bfe2f9792ecb1e8ed7f88ec2842e20368 type Axiom @default.
- Bfe2f9792ecb1e8ed7f88ec2842e20368 annotatedProperty IAO_0000115 @default.
- Bfe2f9792ecb1e8ed7f88ec2842e20368 annotatedSource MONDO_0016839 @default.
- Bfe2f9792ecb1e8ed7f88ec2842e20368 annotatedTarget "Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly." @default.