BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Angelman syndrome

Synonyms

happy puppet syndrome

Definitions

OMIM mapping confirmed by DO. [SN]. A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.

ID

http://purl.obolibrary.org/obo/DOID_1932

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2020_03_01:76880004

ICD10CM:Q93.51

UMLS_CUI:C0162635

MESH:D017204

OMIM:105830

GARD:5810

NCI:C75462

has exact match

MESH:D017204

has exact synonym

happy puppet syndrome

puppetlike syndrome

has_obo_namespace

disease_ontology

id

DOID:1932

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim

label

Angelman syndrome

notation

DOID:1932

prefLabel

Angelman syndrome

textual definition

A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.

subClassOf

http://purl.obolibrary.org/obo/DOID_225

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1932 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_1932 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_1932 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_1932 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_1932 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1932 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_1932 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007113 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017204 RH-MESH 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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 HSPO 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://purl.bioontology.org/ontology/OMIM/105830 OMIM 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.gamuts.net/entity#Angelman_syndrome GAMUTS 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 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

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Example: tissue-based format

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A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

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