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Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0015571> ?p ?o ?g. }

• MONDO_0015571 IAO_0000115 "Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment." @default.
• MONDO_0015571 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/3664" @default.
• MONDO_0015571 RO_0000053 BFO_0000001 @default.
• MONDO_0015571 RO_0000053 BFO_0000002 @default.
• MONDO_0015571 RO_0000053 BFO_0000004 @default.
• MONDO_0015571 RO_0000053 BFO_0000020 @default.
• MONDO_0015571 RO_0000053 BFO_0000040 @default.
• MONDO_0015571 RO_0000053 COB_0000006 @default.
• MONDO_0015571 RO_0000053 COB_0000502 @default.
• MONDO_0015571 RO_0000053 MONDO_0021125 @default.
• MONDO_0015571 RO_0000053 MONDO_0021135 @default.
• MONDO_0015571 RO_0000053 MONDO_0021136 @default.
• MONDO_0015571 RO_0000053 PATO_0000001 @default.
• MONDO_0015571 RO_0000053 SO_0000240 @default.
• MONDO_0015571 RO_0000053 SO_0001260 @default.
• MONDO_0015571 RO_0000053 SO_0001507 @default.
• MONDO_0015571 RO_0000053 SO_1000028 @default.
• MONDO_0015571 RO_0000053 SO_1000029 @default.
• MONDO_0015571 RO_0000053 SO_1000183 @default.
• MONDO_0015571 RO_0002162 BFO_0000001 @default.
• MONDO_0015571 RO_0002162 BFO_0000002 @default.
• MONDO_0015571 RO_0002162 BFO_0000004 @default.
• MONDO_0015571 RO_0002162 BFO_0000040 @default.
• MONDO_0015571 RO_0002162 CARO_0001010 @default.
• MONDO_0015571 RO_0002162 CARO_0010004 @default.
• MONDO_0015571 RO_0002162 COB_0000006 @default.
• MONDO_0015571 RO_0002162 COB_0000022 @default.
• MONDO_0015571 RO_0002162 COB_0000118 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_1 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_117570 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_117571 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_131567 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_1338369 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_1437010 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_207598 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_2759 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_314146 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_314293 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_314295 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_32523 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_32524 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_32525 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_33154 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_33208 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_33213 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_33511 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_376913 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_40674 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_6072 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_7711 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_7742 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_7776 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_8287 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_89593 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_9347 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_9443 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_9526 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_9604 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_9605 @default.
• MONDO_0015571 RO_0002162 NCBITaxon_9606 @default.
• MONDO_0015571 RO_0002162 OBI_0100026 @default.
• MONDO_0015571 RO_0002162 PCO_0000031 @default.
• MONDO_0015571 RO_0002320 BFO_0000001 @default.
• MONDO_0015571 RO_0002320 BFO_0000002 @default.
• MONDO_0015571 RO_0002320 BFO_0000004 @default.
• MONDO_0015571 RO_0002320 BFO_0000040 @default.
• MONDO_0015571 RO_0002320 CARO_0001010 @default.
• MONDO_0015571 RO_0002320 CARO_0010004 @default.
• MONDO_0015571 RO_0002320 COB_0000006 @default.
• MONDO_0015571 RO_0002320 COB_0000022 @default.
• MONDO_0015571 RO_0002320 COB_0000118 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_1 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_117570 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_117571 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_131567 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_1338369 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_1437010 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_207598 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_2759 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_314146 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_314293 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_314295 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_32523 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_32524 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_32525 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_33154 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_33208 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_33213 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_33511 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_376913 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_40674 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_6072 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_7711 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_7742 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_7776 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_8287 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_89593 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_9347 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_9443 @default.
• MONDO_0015571 RO_0002320 NCBITaxon_9526 @default.

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