Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B9fb284e4d06e031378a53389f2399e17> ?p ?o ?g. }
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- B9fb284e4d06e031378a53389f2399e17 hasDbXref "Orphanet:96168" @default.
- B9fb284e4d06e031378a53389f2399e17 type Axiom @default.
- B9fb284e4d06e031378a53389f2399e17 annotatedProperty IAO_0000115 @default.
- B9fb284e4d06e031378a53389f2399e17 annotatedSource MONDO_0019902 @default.
- B9fb284e4d06e031378a53389f2399e17 annotatedTarget "Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum." @default.