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- Bc30120f9f71580fa27f57f53ffb2fe04 hasDbXref "https://www.clinicalgenome.org/affiliation/40020/" @default.
- Bc30120f9f71580fa27f57f53ffb2fe04 type Axiom @default.
- Bc30120f9f71580fa27f57f53ffb2fe04 annotatedProperty IAO_0000115 @default.
- Bc30120f9f71580fa27f57f53ffb2fe04 annotatedSource MONDO_0100478 @default.
- Bc30120f9f71580fa27f57f53ffb2fe04 annotatedTarget "A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures." @default.