Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Be852dc1df43882f2a0049c70747462d8> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Be852dc1df43882f2a0049c70747462d8 hasDbXref "Orphanet:2151" @default.
- Be852dc1df43882f2a0049c70747462d8 type Axiom @default.
- Be852dc1df43882f2a0049c70747462d8 annotatedProperty IAO_0000115 @default.
- Be852dc1df43882f2a0049c70747462d8 annotatedSource MONDO_0013082 @default.
- Be852dc1df43882f2a0049c70747462d8 annotatedTarget "A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated." @default.