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DOID:0050796 - achalasia microcephaly syndrome
Disease Ontology Definition: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: ACHALASIA-MICROCEPHALY SYNDROME, Achalasia microcephaly,
Xenbase Genes :
MONDO:0008699 - achalasia microcephaly syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)