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
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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
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DisGeNET-RDF

International Fanconi Anemia Registry

Linking Open Data for Rare Diseases

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Id http://purl.bioontology.org/ontology/OMIM/103900
http://purl.bioontology.org/ontology/OMIM/103900
Preferred Name

HYPERALDOSTERONISM, FAMILIAL, TYPE I
Synonyms
ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE
GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM
GSH
HALD1
GRA
FH I
ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME
GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE
GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM
GSH
HALD1
GRA
FH I
ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME
GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM
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prefLabel
HYPERALDOSTERONISM, FAMILIAL, TYPE I
Gene Symbol
CYP11B1
P450C11
FHI
notation
103900
Scope Statement
Variable age at onset (childhood to adult) [MISCELLANEOUS]
Caused by fusion of the cytochrome P450, subfamily XIB, polypeptide 1 gene (CYP11B1, 610613) and the cytochrome P450, subfamily XIB, polypeptide 2 gene (CYP11B2, 124080) [MOLECULAR BASIS]
Chimeric CYP11B1/CYP11B2 gene is an anti-Lepore-like fusion product [MISCELLANEOUS]
Variable phenotypic expression [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
8q21
tui
T047
cui
C3838731
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