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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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 Information | This ontology is made available via the UMLS. Users of all UMLS ontologies must abide by the terms of the UMLS license. |
Version | Released | Uploaded | Downloads |
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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... |
No views of OMIM available
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 |
Jump to:
Id | http://purl.bioontology.org/ontology/OMIM/219200
http://purl.bioontology.org/ontology/OMIM/219200
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Preferred Name | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA |
Synonyms |
CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT
ARCL2
CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY
CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION
CUTIS LAXA, DEBRE TYPE
CUTIS LAXA WITH BONE DYSTROPHY
ARCL2A
|
Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT
ARCL2
CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY
CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION
CUTIS LAXA, DEBRE TYPE
CUTIS LAXA WITH BONE DYSTROPHY
ARCL2A
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prefLabel | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA
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Gene Symbol |
ATP6V0A2
ARCL2A
WSS
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notation | 219200
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Scope Statement | Caused by mutation in the ATPase, H+ transporting, lysosomal, V0 subunit A2 gene (ATP6V0A2, 611716.0001) [MOLECULAR BASIS]
Skin abnormalities tend to decrease with age [MISCELLANEOUS]
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OMIM MimType Value | pound
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Has inheritance type | |
Semantic type UMLS property | |
OMIM Entry Type | 3
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type | |
Has manifestation |
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MIMTYPEMEANING | Phenotype description, molecular basis known.
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Gene Locus | 12q24.3
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tui | T047
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cui | C0268355
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