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Disease Ontology Browser
achalasia microcephaly syndrome (DOID:0050796)
Alliance: disease page
Synonyms: Achalasia microcephaly; ACHALASIA-MICROCEPHALY SYNDROME
Alt IDs: OMIM:200450, MESH:C536010, ORDO:929, UMLS_CUI:C1860212
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).

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory