Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

ANGELMAN SYNDROME
Synonyms

HAPPY PUPPET SYNDROME, FORMERLY

ANCR

ANGELMAN SYNDROME CHROMOSOME REGION

AS
ID

http://purl.bioontology.org/ontology/OMIM/105830
altLabel

HAPPY PUPPET SYNDROME, FORMERLY

ANCR

ANGELMAN SYNDROME CHROMOSOME REGION

AS
cui

C0162635

C5574895
Gene Locus

15q11-q13
Gene Symbol

ANCR

UBE3A
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU007306

http://purl.bioontology.org/ontology/OMIM/MTHU019563

http://purl.bioontology.org/ontology/OMIM/MTHU019561

http://purl.bioontology.org/ontology/OMIM/MTHU001954

http://purl.bioontology.org/ontology/OMIM/MTHU003763

http://purl.bioontology.org/ontology/OMIM/MTHU019558

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU019557

http://purl.bioontology.org/ontology/OMIM/MTHU019568

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU019572

http://purl.bioontology.org/ontology/OMIM/MTHU019560

http://purl.bioontology.org/ontology/OMIM/MTHU019554

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU030657

http://purl.bioontology.org/ontology/OMIM/MTHU006867

http://purl.bioontology.org/ontology/OMIM/MTHU012538

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU019570

http://purl.bioontology.org/ontology/OMIM/MTHU019567

http://purl.bioontology.org/ontology/OMIM/MTHU007265

http://purl.bioontology.org/ontology/OMIM/MTHU019571

http://purl.bioontology.org/ontology/OMIM/MTHU019564

http://purl.bioontology.org/ontology/OMIM/MTHU019556

http://purl.bioontology.org/ontology/OMIM/MTHU019555

http://purl.bioontology.org/ontology/OMIM/MTHU019559

http://purl.bioontology.org/ontology/OMIM/MTHU030655

http://purl.bioontology.org/ontology/OMIM/MTHU019562

http://purl.bioontology.org/ontology/OMIM/MTHU019566

http://purl.bioontology.org/ontology/OMIM/MTHU030656

http://purl.bioontology.org/ontology/OMIM/MTHU019569

http://purl.bioontology.org/ontology/OMIM/MTHU005869

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU001745

http://purl.bioontology.org/ontology/OMIM/MTHU036404

http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

105830
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ANGELMAN SYNDROME
Scope Statement

Incidence of 1 in 10,000 to 1 in 20,000 [MISCELLANEOUS]

70% due to de novo maternal deletion of 15q11.2-q13 [MISCELLANEOUS]

2-3% due to imprinting defects [MISCELLANEOUS]

Increased sensitivity to heat [MISCELLANEOUS]

Caused by mutation in the ubiquitin protein ligase E3A gene (UBE3A, 601623.0001) [MOLECULAR BASIS]

Onset between 6 and 12 months of age [MISCELLANEOUS]

Imprinted disorder [MISCELLANEOUS]

25% due to mutations in UBE3A (601623) [MISCELLANEOUS]

2% due to paternal uniparental disomy of 15q11.2-q13 [MISCELLANEOUS]
tui

T047

T033
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNMI/D4-00624 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/76880004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/76880004 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10049004 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10052652 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q93.51 ICD10CM CUI
http://purl.bioontology.org/ontology/MESH/D017204 MESH CUI
http://purl.bioontology.org/ontology/RCD/PKyz5 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10049004 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003551 NDFRT CUI
http://purl.bioontology.org/ontology/CSP/4008-0043 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D017204 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10052652 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10052652 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10049004 MEDDRA CUI
http://purl.obolibrary.org/obo/MONDO_0007113 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_1932 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017204 RH-MESH LOOM
rgo:23699 GAMUTS LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00624 SNMI LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 DOVES LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/76880004 SNOMEDCT LOOM
http://purl.jp/bio/4/id/200906032858933884 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.095 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Angelman_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/OMIT_0017595 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039977 PMAPP-PMO LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_502 ASDPTO LOOM
http://nanbyodata.jp/ontology/NANDO_2200960 NANDO LOOM
http://identifiers.org/omim/105830 REXO LOOM
http://identifiers.org/omim/105830 GEXO LOOM
http://identifiers.org/omim/105830 RETO LOOM
http://www.projecthalo.com/aura#Angelman-Syndrome AURA LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q93.51 ICD10CM LOOM
http://purl.obolibrary.org/obo/NCIT_C75462 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D017204 MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200686 NANDO LOOM
http://www.orpha.net/ORDO/Orphanet_72 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.040 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.662.075 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Angelman_Syndrome PEDTERM LOOM
http://localhost/plosthes.2017-1#6845 PLOSTHES LOOM
urn:agi-folder:angelman_syndrome BPT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#17919 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0162635 OCHV LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1932 NATPRO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Angelman_Syndrome ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Angelman_Syndrome MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Angelman_Syndrome EPISEM LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14766 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.040 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75462 NCIT LOOM
http://purl.obolibrary.org/obo/OMIM_105830 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_90 HRDO LOOM
http://id.nlm.nih.gov/mesh/D017204 MDM LOOM
http://purl.obolibrary.org/obo/DOID_1932 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1932 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1932 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1932 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1932 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_1932 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1932 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1932 FNS-H LOOM