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Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0012740> ?p ?o ?g. }

Showing items 1 to 100 of ±417 with 100 items per page.

MONDO_0012740 IAO_0000115 "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors." @default.
MONDO_0012740 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/3664" @default.
MONDO_0012740 RO_0000053 BFO_0000001 @default.
MONDO_0012740 RO_0000053 BFO_0000002 @default.
MONDO_0012740 RO_0000053 BFO_0000004 @default.
MONDO_0012740 RO_0000053 BFO_0000020 @default.
MONDO_0012740 RO_0000053 BFO_0000040 @default.
MONDO_0012740 RO_0000053 COB_0000006 @default.
MONDO_0012740 RO_0000053 COB_0000502 @default.
MONDO_0012740 RO_0000053 MONDO_0021125 @default.
MONDO_0012740 RO_0000053 MONDO_0021126 @default.
MONDO_0012740 RO_0000053 MONDO_0021127 @default.
MONDO_0012740 RO_0000053 MONDO_0021135 @default.
MONDO_0012740 RO_0000053 MONDO_0021136 @default.
MONDO_0012740 RO_0000053 MONDO_0021139 @default.
MONDO_0012740 RO_0000053 MONDO_0021140 @default.
MONDO_0012740 RO_0000053 MONDO_0021149 @default.
MONDO_0012740 RO_0000053 MONDO_0021152 @default.
MONDO_0012740 RO_0000053 PATO_0000001 @default.
MONDO_0012740 RO_0000053 SO_0000240 @default.
MONDO_0012740 RO_0000053 SO_0001260 @default.
MONDO_0012740 RO_0000053 SO_0001507 @default.
MONDO_0012740 RO_0000053 SO_1000028 @default.
MONDO_0012740 RO_0000053 SO_1000029 @default.
MONDO_0012740 RO_0000053 SO_1000183 @default.
MONDO_0012740 RO_0002162 BFO_0000001 @default.
MONDO_0012740 RO_0002162 BFO_0000002 @default.
MONDO_0012740 RO_0002162 BFO_0000004 @default.
MONDO_0012740 RO_0002162 BFO_0000040 @default.
MONDO_0012740 RO_0002162 CARO_0001010 @default.
MONDO_0012740 RO_0002162 CARO_0010004 @default.
MONDO_0012740 RO_0002162 COB_0000006 @default.
MONDO_0012740 RO_0002162 COB_0000022 @default.
MONDO_0012740 RO_0002162 COB_0000118 @default.
MONDO_0012740 RO_0002162 NCBITaxon_1 @default.
MONDO_0012740 RO_0002162 NCBITaxon_117570 @default.
MONDO_0012740 RO_0002162 NCBITaxon_117571 @default.
MONDO_0012740 RO_0002162 NCBITaxon_131567 @default.
MONDO_0012740 RO_0002162 NCBITaxon_1338369 @default.
MONDO_0012740 RO_0002162 NCBITaxon_1437010 @default.
MONDO_0012740 RO_0002162 NCBITaxon_207598 @default.
MONDO_0012740 RO_0002162 NCBITaxon_2759 @default.
MONDO_0012740 RO_0002162 NCBITaxon_314146 @default.
MONDO_0012740 RO_0002162 NCBITaxon_314293 @default.
MONDO_0012740 RO_0002162 NCBITaxon_314295 @default.
MONDO_0012740 RO_0002162 NCBITaxon_32523 @default.
MONDO_0012740 RO_0002162 NCBITaxon_32524 @default.
MONDO_0012740 RO_0002162 NCBITaxon_32525 @default.
MONDO_0012740 RO_0002162 NCBITaxon_33154 @default.
MONDO_0012740 RO_0002162 NCBITaxon_33208 @default.
MONDO_0012740 RO_0002162 NCBITaxon_33213 @default.
MONDO_0012740 RO_0002162 NCBITaxon_33511 @default.
MONDO_0012740 RO_0002162 NCBITaxon_376913 @default.
MONDO_0012740 RO_0002162 NCBITaxon_40674 @default.
MONDO_0012740 RO_0002162 NCBITaxon_6072 @default.
MONDO_0012740 RO_0002162 NCBITaxon_7711 @default.
MONDO_0012740 RO_0002162 NCBITaxon_7742 @default.
MONDO_0012740 RO_0002162 NCBITaxon_7776 @default.
MONDO_0012740 RO_0002162 NCBITaxon_8287 @default.
MONDO_0012740 RO_0002162 NCBITaxon_89593 @default.
MONDO_0012740 RO_0002162 NCBITaxon_9347 @default.
MONDO_0012740 RO_0002162 NCBITaxon_9443 @default.
MONDO_0012740 RO_0002162 NCBITaxon_9526 @default.
MONDO_0012740 RO_0002162 NCBITaxon_9604 @default.
MONDO_0012740 RO_0002162 NCBITaxon_9605 @default.
MONDO_0012740 RO_0002162 NCBITaxon_9606 @default.
MONDO_0012740 RO_0002162 OBI_0100026 @default.
MONDO_0012740 RO_0002162 PCO_0000031 @default.
MONDO_0012740 RO_0002320 BFO_0000001 @default.
MONDO_0012740 RO_0002320 BFO_0000002 @default.
MONDO_0012740 RO_0002320 BFO_0000004 @default.
MONDO_0012740 RO_0002320 BFO_0000040 @default.
MONDO_0012740 RO_0002320 CARO_0001010 @default.
MONDO_0012740 RO_0002320 CARO_0010004 @default.
MONDO_0012740 RO_0002320 COB_0000006 @default.
MONDO_0012740 RO_0002320 COB_0000022 @default.
MONDO_0012740 RO_0002320 COB_0000118 @default.
MONDO_0012740 RO_0002320 NCBITaxon_1 @default.
MONDO_0012740 RO_0002320 NCBITaxon_117570 @default.
MONDO_0012740 RO_0002320 NCBITaxon_117571 @default.
MONDO_0012740 RO_0002320 NCBITaxon_131567 @default.
MONDO_0012740 RO_0002320 NCBITaxon_1338369 @default.
MONDO_0012740 RO_0002320 NCBITaxon_1437010 @default.
MONDO_0012740 RO_0002320 NCBITaxon_207598 @default.
MONDO_0012740 RO_0002320 NCBITaxon_2759 @default.
MONDO_0012740 RO_0002320 NCBITaxon_314146 @default.
MONDO_0012740 RO_0002320 NCBITaxon_314293 @default.
MONDO_0012740 RO_0002320 NCBITaxon_314295 @default.
MONDO_0012740 RO_0002320 NCBITaxon_32523 @default.
MONDO_0012740 RO_0002320 NCBITaxon_32524 @default.
MONDO_0012740 RO_0002320 NCBITaxon_32525 @default.
MONDO_0012740 RO_0002320 NCBITaxon_33154 @default.
MONDO_0012740 RO_0002320 NCBITaxon_33208 @default.
MONDO_0012740 RO_0002320 NCBITaxon_33213 @default.
MONDO_0012740 RO_0002320 NCBITaxon_33511 @default.
MONDO_0012740 RO_0002320 NCBITaxon_376913 @default.
MONDO_0012740 RO_0002320 NCBITaxon_40674 @default.
MONDO_0012740 RO_0002320 NCBITaxon_6072 @default.
MONDO_0012740 RO_0002320 NCBITaxon_7711 @default.
MONDO_0012740 RO_0002320 NCBITaxon_7742 @default.