JSON

aortic arch defects

Go to external page http://purl.obolibrary.org/obo/MONDO_0015236

Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren. [ https://www.orpha.net/data/patho/GB/uk-aortic-arch.pdf ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C5680872 (MONDO:equivalentTo)
  • MEDGEN:1842770 (MONDO:equivalentTo)
  • GARD:741 (MONDO:GARD)
  • Orphanet:1132 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, ordo_group_of_disorders

exactMatch

http://identifiers.org/medgen/1842770

http://linkedlifedata.com/resource/umls/id/C5680872

http://www.orpha.net/ORDO/Orphanet_1132

excluded from qc check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

id

MONDO:0015236

seeAlso

https://rarediseases.info.nih.gov/diseases/741/aortic-arches-defect