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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 |
---|---|---|---|
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/164860
http://purl.bioontology.org/ontology/OMIM/164860
|
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Preferred Name | MET PROTOONCOGENE, RECEPTOR TYROSINE KINASE |
Synonyms |
DEAFNESS, AUTOSOMAL RECESSIVE 97
RENAL CELL CARCINOMA, PAPILLARY, 1
ONCOGENE MET
HEPATOCYTE GROWTH FACTOR RECEPTOR
MET
RENAL CELL CARCINOMA, PAPILLARY, 1, SOMATIC
MET PROTOONCOGENE
ARTHROGRYPOSIS, DISTAL, TYPE 11
HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
HGFR
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|
Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
DEAFNESS, AUTOSOMAL RECESSIVE 97
RENAL CELL CARCINOMA, PAPILLARY, 1
ONCOGENE MET
HEPATOCYTE GROWTH FACTOR RECEPTOR
MET
RENAL CELL CARCINOMA, PAPILLARY, 1, SOMATIC
MET PROTOONCOGENE
ARTHROGRYPOSIS, DISTAL, TYPE 11
HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
HGFR
See more
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|
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prefLabel | MET PROTOONCOGENE, RECEPTOR TYROSINE KINASE
|
Gene Symbol |
DFNB97
MET
OSFD
DA11
|
notation | 164860
|
Has allelic variant |
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OMIM MimType Value | star
|
Semantic type UMLS property | |
OMIM Entry Type | 1
|
type | |
MIMTYPEMEANING | Gene with known sequence
|
Gene Locus | 7q31
|
Phenotype of |
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tui |
T047
T033
T191
T028
|
cui |
C1336839
C4084709
C1417123
C4016289
C4085248
C4016290
C5774205
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