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Human Disease Ontology
Last uploaded:
November 27, 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_1932 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:76880004 ICD10CM:Q93.51 UMLS_CUI:C0162635 MESH:D017204 GARD:5810 MIM:105830 NCI:C75462
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|
| definition |
A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
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|
| has exact match |
MESH:D017204
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| has exact synonym |
happy puppet syndrome puppetlike syndrome
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:1932
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|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
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| label |
Angelman syndrome
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|
| notation |
DOID:1932
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| prefLabel |
Angelman syndrome
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| subClassOf |
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