Human Disease Ontology

Last uploaded: March 29, 2024
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Preferred Name

Alstrom syndrome
Synonyms
Definitions

OMIM mapping confirmed by DO. [SN].
ID

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

OMIM mapping confirmed by DO. [SN].
database_cross_reference

OMIM:203800

MESH:D056769

SNOMEDCT_US_2023_03_01:63702009

UMLS_CUI:C0268425

NCI:C84549
definition

A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
has exact match

MESH:D056769
has material basis in

http://purl.obolibrary.org/obo/GENO_0000148
has symptom

http://purl.obolibrary.org/obo/SYMP_0000008
has_obo_namespace

disease_ontology
id

DOID:0050473
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus
label

Alstrom syndrome
notation

DOID:0050473
prefLabel

Alstrom syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225
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http://purl.obolibrary.org/obo/DOID_0050473 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050473 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050473 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050473 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008763 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 MONDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050473 NATPRO 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 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 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
http://www.gamuts.net/entity#Alström_syndrome GAMUTS REST