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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
Details
Acronym OMIM
Visibility Public
Description Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine
Status Production
Format UMLS
Contact NLM Customer Service, custserv@nlm.nih.gov
Categories Health
Groups Unified Medical Language System
License InformationThis ontology is made available via the UMLS. Users of all UMLS ontologies must abide by the terms of the UMLS license.
Submissions
Version Released Uploaded Downloads
OMIM2024_08_09 (Parsed, Indexed, Metrics, Annotator, Error Diff) 11/04/2024 01/16/2025 RDF/TTL | CSV
2024AA (Archived) 05/06/2024 08/28/2024 RDF/TTL
2023AB (Archived) 11/06/2023 01/31/2024 RDF/TTL
2023AA (Archived) 04/01/2023 08/07/2023 RDF/TTL
2022AB (Archived) 11/07/2022 01/06/2023 RDF/TTL
2022AA (Archived) 05/02/2022 06/10/2022 RDF/TTL
2021AB (Archived) 11/01/2021 11/18/2021 RDF/TTL
2021AA (Archived) 04/03/2021 05/20/2021 RDF/TTL
2020AB (Archived) 11/02/2020 01/06/2021 RDF/TTL
2020AA (Archived) 05/04/2018 09/24/2020 RDF/TTL
2019AB (Archived) 11/04/2019 11/18/2019 RDF/TTL
2019AA (Archived) 05/06/2019 08/27/2019 RDF/TTL
2018AB (Archived) 11/05/2018 04/29/2019 RDF/TTL
2018AA (Archived) 05/07/2018 07/06/2018 RDF/TTL
2017AB (Archived) 11/06/2017 07/06/2018 RDF/TTL
2017AA (Archived) 05/08/2017 04/06/2018 RDF/TTL
2016AB (Archived) 02/06/2017 02/06/2017 RDF/TTL
2016AA (Archived) 09/06/2016 09/06/2016 RDF/TTL
2015AB (Archived) 07/20/2016 07/20/2016 RDF/TTL
2015AA (Archived) 06/09/2015 06/09/2015 RDF/TTL
2014AB (Archived) 01/29/2015 01/29/2015 RDF/TTL
2014AA (Archived) 05/28/2014 05/28/2014 RDF/TTL
2013AB (Archived) 02/18/2014 02/18/2014 RDF/TTL
2013AA (Archived) 01/14/2014 01/14/2014 RDF/TTL
2013AA (Archived) 05/08/2013 09/25/2013 RDF/TTL
2010_04_08 (Archived) 04/08/2010 04/20/2011 RDF/TTL
2007_12_19 (Archived) 12/19/2007 07/31/2009 RDF/TTL
more...
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Metrics
Classes 109,070
Individuals 0
Properties 16
Maximum depth 7
Maximum number of children 6,661
Average number of children 408
Classes with a single child 12
Classes with more than 25 children 69
Classes with no definition 109,070
Visits
Projects using OMIM

DisGeNET-RDF

International Fanconi Anemia Registry

Linking Open Data for Rare Diseases

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Id http://purl.bioontology.org/ontology/OMIM/243910
http://purl.bioontology.org/ontology/OMIM/243910
Preferred Name

ARIMA SYNDROME
Synonyms
CEREBROOCULOHEPATORENAL SYNDROME
JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA
COLOBOMA, CHORIORETINAL, WITH CEREBELLAR VERMIS APLASIA
DEKABAN-ARIMA SYNDROME
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CEREBROOCULOHEPATORENAL SYNDROME
JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA
COLOBOMA, CHORIORETINAL, WITH CEREBELLAR VERMIS APLASIA
DEKABAN-ARIMA SYNDROME
prefLabel
ARIMA SYNDROME
notation
243910
OMIM MimType Value
perc
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
5
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU012048
http://purl.bioontology.org/ontology/OMIM/MTHU004160
http://purl.bioontology.org/ontology/OMIM/MTHU000860
http://purl.bioontology.org/ontology/OMIM/MTHU001998
http://purl.bioontology.org/ontology/OMIM/MTHU012053
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU036517
http://purl.bioontology.org/ontology/OMIM/MTHU012052
http://purl.bioontology.org/ontology/OMIM/MTHU001370
http://purl.bioontology.org/ontology/OMIM/MTHU012051
http://purl.bioontology.org/ontology/OMIM/MTHU012046
http://purl.bioontology.org/ontology/OMIM/MTHU000628
http://purl.bioontology.org/ontology/OMIM/MTHU002512
http://purl.bioontology.org/ontology/OMIM/MTHU012047
http://purl.bioontology.org/ontology/OMIM/MTHU012049
http://purl.bioontology.org/ontology/OMIM/MTHU041991
http://purl.bioontology.org/ontology/OMIM/MTHU037221
http://purl.bioontology.org/ontology/OMIM/MTHU004727
http://purl.bioontology.org/ontology/OMIM/MTHU011721
http://purl.bioontology.org/ontology/OMIM/MTHU012043
http://purl.bioontology.org/ontology/OMIM/MTHU004726
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU012045
http://purl.bioontology.org/ontology/OMIM/MTHU012050
http://purl.bioontology.org/ontology/OMIM/MTHU002571
http://purl.bioontology.org/ontology/OMIM/MTHU012044
http://purl.bioontology.org/ontology/OMIM/MTHU001613
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU000196
http://purl.bioontology.org/ontology/OMIM/MTHU041990
http://purl.bioontology.org/ontology/OMIM/MTHU008900
http://purl.bioontology.org/ontology/OMIM/MTHU002080
http://purl.bioontology.org/ontology/OMIM/MTHU002640
http://purl.bioontology.org/ontology/OMIM/MTHU000235
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MIMTYPEMEANING
Mendelian phenotype or locus, molecular basis unknown.
tui
T047
cui
C1855675
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