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Disease Ontology Browser
achalasia microcephaly syndrome (DOID:0050796)
Synonyms: Achalasia microcephaly; ACHALASIA-MICROCEPHALY SYNDROME
Alt IDs: OMIM:200450, MESH:C536010, UMLS_CUI:C1860212
Definition: An autosomal recessive disease 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).


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/21/2017
MGI 6.08
The Jackson Laboratory