Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bd3fef106e8fcdf2cfba6b53e3c5db42e> ?p ?o ?g. }
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- Bd3fef106e8fcdf2cfba6b53e3c5db42e hasDbXref "Orphanet:401986" @default.
- Bd3fef106e8fcdf2cfba6b53e3c5db42e type Axiom @default.
- Bd3fef106e8fcdf2cfba6b53e3c5db42e annotatedProperty IAO_0000115 @default.
- Bd3fef106e8fcdf2cfba6b53e3c5db42e annotatedSource MONDO_0013396 @default.
- Bd3fef106e8fcdf2cfba6b53e3c5db42e annotatedTarget "1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, 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.