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- B86046c66a305b0cc1bda1c603c532c17 hasDbXref "Orphanet:1590" @default.
- B86046c66a305b0cc1bda1c603c532c17 type Axiom @default.
- B86046c66a305b0cc1bda1c603c532c17 annotatedProperty IAO_0000115 @default.
- B86046c66a305b0cc1bda1c603c532c17 annotatedSource MONDO_0011248 @default.
- B86046c66a305b0cc1bda1c603c532c17 annotatedTarget "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported." @default.