Cell Culture Ontology

Last uploaded: July 23, 2014
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Preferred Name

Alstrom syndrome
Synonyms

Alstrom syndrome

Alstrom's syndrome

Alström Syndrome

Alström syndrome

ALMS

ALSS
Definitions

A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.
ID

http://purl.obolibrary.org/obo/MONDO_0008763
curated_content_resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0008763
database_cross_reference

ICD9:759.89

DOID:0050473

OMIM:203800

Orphanet:64

SCTID:63702009

MESH:D056769

MEDGEN:78675

NCIT:C84549

UMLS:C0268425

MedDRA:10068783

GARD:5787

NORD:757
definition

A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.
disease has major feature

http://purl.obolibrary.org/obo/HP_0001644
has_exact_synonym

Alstrom syndrome

Alstrom's syndrome

Alström Syndrome

Alström syndrome

ALMS

ALSS
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/324
id

MONDO:0008763
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_disorder
label

Alstrom syndrome
notation

MONDO:0008763
preferred label

Alstrom syndrome
prefLabel

Alstrom syndrome
skos_closeMatch

http://identifiers.org/meddra/10068783
skos_exactMatch

http://purl.obolibrary.org/obo/DOID_0050473

http://identifiers.org/medgen/78675

http://identifiers.org/mesh/D056769

http://purl.obolibrary.org/obo/NCIT_C84549

http://linkedlifedata.com/resource/umls/id/C0268425

https://omim.org/entry/203800

http://identifiers.org/snomedct/63702009

http://purl.obolibrary.org/obo/Orphanet_64
subClassOf

http://www.ebi.ac.uk/efo/EFO_0003900

http://www.ebi.ac.uk/efo/EFO_1000017

http://purl.obolibrary.org/obo/MONDO_0002254
excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0005240

http://purl.obolibrary.org/obo/MONDO_0020240

http://purl.obolibrary.org/obo/MONDO_0016337

http://purl.obolibrary.org/obo/MONDO_0015962

http://purl.obolibrary.org/obo/MONDO_0005015
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0008763 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008763 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008763 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008763 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008763 KTAO SAME_URI
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050473 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_0050473 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050473 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050473 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050473 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050473 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050473 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/D056769 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.684.249 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.300.099 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/63702009 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068814 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.684.249 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/203800 OMIM LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_7 HAMIDEHSGH LOOM
urn:agi-folder:alstrom_syndrome BPT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056769 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.495.099 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.080 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D056769 MDM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Alstrom_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/NCIT_C84549 BERO LOOM
http://purl.obolibrary.org/obo/OMIM_203800 CCO LOOM
http://identifiers.org/omim/203800 REXO LOOM
http://identifiers.org/omim/203800 GEXO LOOM
http://identifiers.org/omim/203800 RETO LOOM
http://purl.obolibrary.org/obo/OMIT_0026725 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84549 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.300.099 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PKyF.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/Xa0Zf RCD LOOM
http://purl.jp/bio/4/id/200906048413528967 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.829.800.300.099 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038418 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 KTAO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.375.099 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268425 OCHV LOOM
http://purl.bioontology.org/ontology/SNMI/D6-96300 SNMI LOOM