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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/613658
http://purl.bioontology.org/ontology/OMIM/613658
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Preferred Name | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 |
Synonyms |
NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES, FORMERLY
DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS, FORMERLY
RILDBC
NEDBLLA, FORMERLY
RAJAB SYNDROME
RILDBC1
RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS
|
Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES, FORMERLY
DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS, FORMERLY
RILDBC
NEDBLLA, FORMERLY
RAJAB SYNDROME
RILDBC1
RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS
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prefLabel | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1
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Gene Symbol |
FARSB
RILDBC1
FARSLB
|
notation | 613658
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Scope Statement | Caused by mutation in the phenylalanine-tRNA synthetase, beta subunit gene (FARSB, 609690.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
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OMIM MimType Value | pound
|
Has inheritance type | |
Semantic type UMLS property | |
OMIM Entry Type | 3
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Moved from | 618007
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type | |
Has manifestation |
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MIMTYPEMEANING | Phenotype description, molecular basis known.
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Gene Locus | 2q36
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tui | T047
|
cui |
C3150910
C5436276
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