Preferred Name |
Angelman syndrome |
|
Synonyms |
puppetlike syndrome Angelman syndrome happy puppet syndrome happy puppet syndrome, formerly AS Angelman syndrome chromosome region happy puppet syndrome (formerly) Angelman syndrome (Type 2) Angelman syndrome (Type 1) |
|
Definitions |
A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0007113 |
|
has characteristic | ||
has_exact_synonym |
puppetlike syndrome Angelman syndrome happy puppet syndrome |
|
has_narrow_synonym |
Angelman syndrome (Type 2) Angelman syndrome (Type 1) |
|
has_related_synonym |
happy puppet syndrome, formerly AS Angelman syndrome chromosome region happy puppet syndrome (formerly) |
|
IAO_0000233 | ||
label |
Angelman syndrome |
|
prefixIRI |
MONDO:0007113 |
|
prefLabel |
Angelman syndrome |
|
textual definition |
A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. |
|
subClassOf |
Create mapping