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Angelman syndrome

Go to external page 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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:105830 (Orphanet:72/e)
  • DECIPHER:54 (MONDO:equivalentTo)
  • DECIPHER:4 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • Orphanet:72 (OMIM:105830)
  • NCIT:C75462 (MONDO:equivalentTo)
  • MedDRA:10049004 (Orphanet:72/e)
  • GARD:0005810 (MONDO:equivalentTo)
  • UMLS:C0162635 (Orphanet:72/e)
  • DOID:1932 (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)
  • MESH:C531619 (MONDO:equivalentTo)
  • SCTID:76880004 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

A synonym that is historic and discouraged
happy puppet syndrome (formerly) [ GARD : 0005810 ]
A synonym that is historic and discouraged
puppetlike syndrome [ DOID : 1932 ]
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/DOID_1932
  • http://identifiers.org/snomedct/76880004
  • http://identifiers.org/mesh/D017204
  • http://purl.bioontology.org/ontology/ICD10CM/Q93.51
  • http://identifiers.org/mesh/C531619
  • https://omim.org/entry/105830
  • http://www.orpha.net/ORDO/Orphanet_72
excluded subClassOf
  • http://purl.obolibrary.org/obo/MONDO_0019040
has exact synonym
  • puppetlike syndrome
  • happy puppet syndrome
  • Angelman syndrome
has narrow synonym
  • Angelman syndrome (Type 1)
  • Angelman syndrome (Type 2)
has related synonym
  • Angelman syndrome chromosome region
  • AS
  • happy puppet syndrome, formerly
  • happy puppet syndrome (formerly)
id
  • MONDO:0007113
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/3941