ZFIN Human Disease: achalasia microcephaly syndrome

OBO ID: DOID:0050796

Term Name:	achalasia microcephaly syndrome		Search Ontology:
Synonyms:	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:	GARD:456 MESH:C536010 OMIM:200450 SNOMEDCT_US_2023_03_01:718573009 UMLS_CUI:C1860212
Ontology:	Human Disease ( DOID:0050796 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None