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Mondo Disease Ontology
| Preferred Name | Angelman syndrome | |
| Synonyms |
Angelman syndrome (Type 2) Angelman syndrome (Type 1) happy puppet syndrome, formerly AS Angelman syndrome chromosome region happy puppet syndrome (formerly) Angelman’s syndrome puppetlike syndrome Angelman syndrome happy puppet syndrome |
|
| Definitions |
A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007113 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0007113 |
|
| database_cross_reference |
NORD:782 GARD:5810 icd11.foundation:1106558408 MedDRA:10049004 UMLS:C0162635 DECIPHER:54 MESH:C531619 MESH:D017204 NANDO:1200686 OMIM:105830 NCIT:C75462 ICD10CM:Q93.51 Orphanet:72 DECIPHER:4 ICD9:759.89 NANDO:2200960 SCTID:76880004 MEDGEN:58144 DOID:1932
|
|
| definition |
A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
|
|
| has_exact_synonym |
Angelman’s syndrome puppetlike syndrome Angelman syndrome happy puppet syndrome
|
|
| has_narrow_synonym |
Angelman syndrome (Type 2) Angelman syndrome (Type 1)
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|
| has_related_synonym |
happy puppet syndrome, formerly AS Angelman syndrome chromosome region happy puppet syndrome (formerly)
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|
| IAO_0000233 | ||
| id |
MONDO:0007113
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
|
| label |
Angelman syndrome
|
|
| notation |
MONDO:0007113
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|
| prefLabel |
Angelman syndrome
|
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_72 http://identifiers.org/mesh/D017204 http://purl.bioontology.org/ontology/ICD10CM/Q93.51 http://purl.obolibrary.org/obo/NCIT_C75462 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1106558408 http://identifiers.org/medgen/58144 http://identifiers.org/snomedct/76880004 http://identifiers.org/mesh/C531619 |
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| treeView | ||
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019040 |
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| subClassOf |
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