About: achalasia microcephaly syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease syndrome nodeID://b50937615 nodeID://b50937616
label	achalasia microcephaly syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050796
created_by	lschriml
creation_date	2013-11-20T03:01:06Z
database_cross_reference	GARD:456 MESH:C536010 OMIM:200450 SNOMEDCT_US_2021_09_01:718573009 UMLS_CUI:C1860212
has_exact_synonym	ACHALASIA-MICROCEPHALY SYNDROME (en) Achalasia microcephaly (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	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).
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937617

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