MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:4419
Name:Esophageal Atresia
Definition:Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA.
Alternative IDs:DO:DOID:10485
ParentIDs:MESH:D004065|MESH:D004935
TreeNumbers:C06.198.330 |C06.405.117.260 |C16.131.314.330
Synonyms:Atresia, Esophageal |Atresias, Esophageal |Esophageal Atresias
Slim Mappings:Congenital abnormality|Digestive system disease
Reference: MedGen: D004933
MeSH: D004933
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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