Search Ontology:
Human Disease
achalasia microcephaly syndrome
- Term ID
- DOID:0050796
- Synonyms
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- Achalasia microcephaly
- ACHALASIA-MICROCEPHALY SYNDROME
- 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). (3)
- References
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- GARD:456
- MESH:C536010
- MIM:200450
- SNOMEDCT_US_2023_03_01:718573009
- UMLS_CUI:C1860212
- Ontology
- Human Disease ( DOID:0050796 )
- is a type of
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Genes Involved
Zebrafish Models