Mondo Disease Ontology

Last uploaded: May 9, 2024

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Preferred Name	Alstrom syndrome
Synonyms	Alstrom's syndrome Alstrom syndrome ALMS Alström syndrome ALSS Alström Syndrome
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
closeMatch	http://identifiers.org/meddra/10068783
database_cross_reference	OMIM:203800 MedDRA:10068783 UMLS:C0268425 MESH:D056769 SCTID:63702009 Orphanet:64 GARD:5787 NORD:757 NCIT:C84549 ICD9:759.89 DOID:0050473
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 feature	http://purl.obolibrary.org/obo/HP_0000618 http://purl.obolibrary.org/obo/HP_0000855 http://purl.obolibrary.org/obo/HP_0000556 http://purl.obolibrary.org/obo/HP_0012211 http://purl.obolibrary.org/obo/HP_0001644
disease has major feature	http://purl.obolibrary.org/obo/HP_0001644
exactMatch	http://purl.obolibrary.org/obo/DOID_0050473 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
has characteristic	http://purl.obolibrary.org/obo/MONDO_0021136
has material basis in germline mutation in	http://identifiers.org/hgnc/428
has_exact_synonym	Alstrom's syndrome Alstrom syndrome ALMS Alström syndrome ALSS Alström Syndrome
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/324
id	MONDO:0008763
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare
label	Alstrom syndrome
notation	MONDO:0008763
prefLabel	Alstrom syndrome
treeView	http://purl.obolibrary.org/obo/MONDO_0005308 http://purl.obolibrary.org/obo/MONDO_0006025 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
subClassOf	http://purl.obolibrary.org/obo/MONDO_0005308 http://purl.obolibrary.org/obo/MONDO_0006025 http://purl.obolibrary.org/obo/MONDO_0002254

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008763	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008763	EFO	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	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0008763	EFO	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