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Angelman syndrome

^ http://purl.obolibrary.org/obo/MONDO_0007113

A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. [ Orphanet:72 https://orcid.org/0000-0001-5208-3432 ]

Term info

database cross reference
  • OMIM:105830 (Orphanet:72/e)
  • UMLS:C0162635 (Orphanet:72/e)
  • GARD:0005810 (MONDO:equivalentTo)
  • DECIPHER:54 (MONDO:equivalentTo)
  • Orphanet:72 (OMIM:105830)
  • DOID:1932 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • DECIPHER:4 (MONDO:equivalentTo)
  • MedDRA:10049004 (Orphanet:72/e)
  • SCTID:76880004 (MONDO:equivalentTo)
  • MESH:C531619 (MONDO:equivalentTo)
  • ICD10CM:Q93.51 (https://www.angelmanbiomarkers.org/special-announcement-angelman-specific-icd-10-code-q93-51-is-finally-here/)
  • MESH:D017204 (Orphanet:72/e)
  • NCIT:C75462 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

abbreviation
AS [ MONDO:Lexical OMIM:105830 ]

A synonym that is historic and discouraged
happy puppet syndrome (formerly) [ GARD:0005810 ]

A synonym that is historic and discouraged
happy puppet syndrome, formerly [ OMIM:105830 ]

A synonym that is historic and discouraged
puppetlike syndrome [ DOID:1932 ]

A synonym that is historic and discouraged
happy puppet syndrome [ DOID:1932 OMIM:105830 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3941, https://github.com/monarch-initiative/mondo/issues/5588

closeMatch

http://identifiers.org/meddra/10049004

definition

A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C75462, http://linkedlifedata.com/resource/umls/id/C0162635, 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/DOID_1932, http://identifiers.org/mesh/C531619, https://omim.org/entry/105830, http://identifiers.org/snomedct/76880004

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019040, http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

Angelman syndrome, puppetlike syndrome, happy puppet syndrome

has narrow synonym

Angelman syndrome (Type 2), Angelman syndrome (Type 1)

has related synonym

Angelman syndrome chromosome region, happy puppet syndrome, formerly, AS, happy puppet syndrome (formerly)

id

MONDO:0007113

Term relations