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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Preferred Name | Angelman syndrome | |
| Synonyms |
happy puppet syndrome puppetlike syndrome |
|
| Definitions |
A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1932 |
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
|
| alternative label |
happy puppet syndrome puppetlike syndrome
|
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:76880004 ICD10CM:Q93.51 UMLS_CUI:C0162635 MESH:D017204 GARD:5810 MIM:105830 NCI:C75462
|
|
| definition |
A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. OMIM mapping confirmed by DO. [SN].
|
|
| has close match |
MESH:D017204
|
|
| 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
|
|
| note |
A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. OMIM mapping confirmed by DO. [SN].
|
|
| preferred label |
Angelman syndrome
|
|
| prefLabel |
Angelman syndrome
|
|
| subClassOf |
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