Visualize Submit Comment
Metadata
ID DOID:0050796
Name 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).
http://omim.org/entry/200450, http://rarediseases.info.nih.gov/gard/456/disease/resources/1, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN
Xrefs

GARD:456

MESH:C536010

OMIM:200450

SNOMEDCT_US_2023_03_01:718573009

UMLS_CUI:C1860212

Subsets

DO_rare_slim

Synonyms

Achalasia microcephaly [EXACT]

ACHALASIA-MICROCEPHALY SYNDROME [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Add an item to the term tracker