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Experimental Factor Ontology
| Preferred Name | Angelman syndrome | |
| Synonyms |
Angelman syndrome (Type 2) Angelman syndrome (Type 1) happy puppet syndrome, formerly happy puppet syndrome (formerly) Angelman syndrome chromosome region AS puppetlike syndrome Angelman’s 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 |
|
| closeMatch | ||
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0007113 |
|
| database_cross_reference |
ICD9:759.89 UMLS:C0162635 icd11.foundation:1106558408 Orphanet:72 SCTID:76880004 NCIT:C75462 MEDGEN:58144 NANDO:1200686 DECIPHER:54 MESH:C531619 MedDRA:10049004 ICD10CM:Q93.51 NANDO:2200960 MESH:D017204 OMIM:105830 DECIPHER:4 DOID:1932 GARD:5810 NORD:782
|
|
| definition |
A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
|
|
| 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 |
|
| has_exact_synonym |
puppetlike syndrome Angelman’s syndrome Angelman syndrome happy puppet syndrome
|
|
| has_narrow_synonym |
Angelman syndrome (Type 2) Angelman syndrome (Type 1)
|
|
| has_related_synonym |
happy puppet syndrome, formerly happy puppet syndrome (formerly) Angelman syndrome chromosome region AS
|
|
| IAO_0000233 | ||
| id |
MONDO:0007113
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Angelman syndrome
|
|
| notation |
MONDO:0007113
|
|
| preferred label |
Angelman syndrome
|
|
| prefLabel |
Angelman syndrome
|
|
| subClassOf | ||
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019040 |
| Delete | Subject | Author | Type | Created |
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