| 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://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN, http://rarediseases.info.nih.gov/gard/456/disease/resources/1 |
| Xrefs |
SNOMEDCT_US_2023_03_01:718573009 |
| Subsets |
DO_rare_slim |
| Synonyms |
Achalasia microcephaly [EXACT] ACHALASIA-MICROCEPHALY SYNDROME [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
disease has feature some microcephaly disease has feature some achalasia disease has feature some intellectual disability has material basis in some autosomal recessive inheritance has symptom some vomiting |