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| Term | achalasia microcephaly syndrome | ID (Ontology) | DOID:0050796 (Human Disease) |
| 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). | ||
| Also Known As | "Achalasia microcephaly" ; "ACHALASIA-MICROCEPHALY SYNDROME" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| achalasia microcephaly syndrome |
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| Is a |
autosomal recessive disease syndrome |
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External Crossreferences & Linkouts
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GARD:456 MESH:C536010 MIM:200450 ORDO:929 SNOMEDCT_US_2023_03_01:718573009 UMLS_CUI:C1860212 |
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