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 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
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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

Id	http://purl.bioontology.org/ontology/OMIM/617761 http://purl.bioontology.org/ontology/OMIM/617761
Preferred Name	JOUBERT SYNDROME 31
Synonyms	JBTS31
Type	http://www.w3.org/2002/07/owl#Class

altLabel	JBTS31
prefLabel	JOUBERT SYNDROME 31
Gene Symbol	CEP120 SRTD13 JBTS31 CCDC100
notation	617761
Scope Statement	Caused by mutation in the 120-kd centrosomal protein (CEP120, 613446.0004) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000929 http://purl.bioontology.org/ontology/OMIM/MTHU059857 http://purl.bioontology.org/ontology/OMIM/MTHU003329 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU013993 http://purl.bioontology.org/ontology/OMIM/MTHU015563 http://purl.bioontology.org/ontology/OMIM/MTHU059858 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU031837 http://purl.bioontology.org/ontology/OMIM/MTHU058088 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	5q23.2
tui	T047
cui	C4540355

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Subject	Author	Type	Class	Created
Lunulae	Marcel+Milan+Ramirez+Rojas	Comment		2024-07-13

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