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DO Term : achalasia microcephaly syndrome [DOID:0050796] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).
  • synonyms:
  • SNOMEDCT_US_2023_03_01:718573009,
  • 200450,
  • OMIM:200450,
  • MESH:C536010,
  • UMLS_CUI:C1860212,
  • ACHALASIA-MICROCEPHALY SYNDROME,
  • Achalasia microcephaly,
  • GARD:456,
  • ORDO:929
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Ontology Term --> Direct parents