Online Mendelian Inheritance in Man

Last uploaded: April 29, 2019
Preferred Name

ALSTROM SYNDROME

Synonyms

ALMS

ID

http://purl.bioontology.org/ontology/OMIM/203800

altLabel

ALMS

ALSS

cui

C0268425

Gene Locus

2p13

Gene Symbol

KIAA0328

ALSS

ALMS1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU053574

http://purl.bioontology.org/ontology/OMIM/MTHU014536

http://purl.bioontology.org/ontology/OMIM/MTHU014534

http://purl.bioontology.org/ontology/OMIM/MTHU036909

http://purl.bioontology.org/ontology/OMIM/MTHU027655

http://purl.bioontology.org/ontology/OMIM/MTHU006569

http://purl.bioontology.org/ontology/OMIM/MTHU053576

http://purl.bioontology.org/ontology/OMIM/MTHU014531

http://purl.bioontology.org/ontology/OMIM/MTHU013850

http://purl.bioontology.org/ontology/OMIM/MTHU004766

http://purl.bioontology.org/ontology/OMIM/MTHU002670

http://purl.bioontology.org/ontology/OMIM/MTHU023700

http://purl.bioontology.org/ontology/OMIM/MTHU043759

http://purl.bioontology.org/ontology/OMIM/MTHU011900

http://purl.bioontology.org/ontology/OMIM/MTHU005462

http://purl.bioontology.org/ontology/OMIM/MTHU023698

http://purl.bioontology.org/ontology/OMIM/MTHU000372

http://purl.bioontology.org/ontology/OMIM/MTHU005753

http://purl.bioontology.org/ontology/OMIM/MTHU001221

http://purl.bioontology.org/ontology/OMIM/MTHU013463

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

http://purl.bioontology.org/ontology/OMIM/MTHU006965

http://purl.bioontology.org/ontology/OMIM/MTHU014532

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU014535

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU014533

http://purl.bioontology.org/ontology/OMIM/MTHU053578

http://purl.bioontology.org/ontology/OMIM/MTHU014527

http://purl.bioontology.org/ontology/OMIM/MTHU002080

http://purl.bioontology.org/ontology/OMIM/MTHU009476

http://purl.bioontology.org/ontology/OMIM/MTHU005038

http://purl.bioontology.org/ontology/OMIM/MTHU014530

http://purl.bioontology.org/ontology/OMIM/MTHU053575

http://purl.bioontology.org/ontology/OMIM/MTHU053573

http://purl.bioontology.org/ontology/OMIM/MTHU004822

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU000153

http://purl.bioontology.org/ontology/OMIM/MTHU023699

http://purl.bioontology.org/ontology/OMIM/MTHU002092

http://purl.bioontology.org/ontology/OMIM/MTHU002090

http://purl.bioontology.org/ontology/OMIM/MTHU023697

http://purl.bioontology.org/ontology/OMIM/MTHU037242

http://purl.bioontology.org/ontology/OMIM/MTHU023701

http://purl.bioontology.org/ontology/OMIM/MTHU001509

http://purl.bioontology.org/ontology/OMIM/MTHU002684

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

http://purl.bioontology.org/ontology/OMIM/MTHU002068

http://purl.bioontology.org/ontology/OMIM/MTHU003537

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000604

http://purl.bioontology.org/ontology/OMIM/MTHU008982

http://purl.bioontology.org/ontology/OMIM/MTHU001370

http://purl.bioontology.org/ontology/OMIM/MTHU053577

http://purl.bioontology.org/ontology/OMIM/MTHU014528

http://purl.bioontology.org/ontology/OMIM/MTHU007445

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

203800

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ALSTROM SYNDROME

tui

T047

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Delete Mapping To Ontology Source
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.684.249 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_0050473 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050473 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050473 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050473 NIFSTD LOOM
http://purl.bioontology.org/ontology/SNMI/D6-96300 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D6-96300 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056769 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.829.800.300.099 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.684.249 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.jp/bio/4/id/200906048413528967 IOBC LOOM
http://purl.jp/bio/4/id/200906048413528967 IOBC LOOM
http://purl.jp/bio/4/id/200906048413528967 IOBC LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050473 NATPRO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Alstrom_Syndrome CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.375.099 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PKyF.00 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.300.099 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068814 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10068814 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.495.099 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/Xa0Zf RCD CUI
http://purl.bioontology.org/ontology/RCD/Xa0Zf RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.300.099 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068783 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/63702009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/63702009 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/CSP/1114-9526 CRISP CUI
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_7 HAMIDEHSGH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.080 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D056769 MESH CUI
http://purl.bioontology.org/ontology/MESH/D056769 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84549 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84549 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84549 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84549 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84549 NCIT LOOM
http://identifiers.org/omim/203800 RETO LOOM
http://identifiers.org/omim/203800 GEXO LOOM
http://identifiers.org/omim/203800 REXO LOOM
http://purl.bioontology.org/ontology/NDFRT/N0000181100 NDFRT CUI