Preferred Name |
Angelman syndrome |
|
Synonyms |
happy puppet syndrome |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. |
|
ID |
http://purl.obolibrary.org/obo/DOID_1932 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
SNOMEDCT_US_2023_03_01:76880004 ICD10CM:Q93.51 UMLS_CUI:C0162635 MESH:D017204 OMIM:105830 GARD:5810 NCI:C75462 |
|
definition |
A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. |
|
has exact match |
MESH:D017204 |
|
has exact synonym |
happy puppet syndrome puppetlike syndrome |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:1932 |
|
in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
label |
Angelman syndrome |
|
notation |
DOID:1932 |
|
prefLabel |
Angelman syndrome |
|
subClassOf |
Create mapping