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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/261990
http://purl.bioontology.org/ontology/OMIM/261990
|
|---|---|
| Preferred Name | ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY |
| Synonyms |
PILI TORTI AND DEVELOPMENTAL DELAY
HJDD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PILI TORTI AND DEVELOPMENTAL DELAY
HJDD
|
|---|---|
| prefLabel | ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY
|
| Gene Symbol |
ZP
HJDD
HEPHL1
|
| notation | 261990
|
| Scope Statement | Based on report of 1 patient (last curated June 2019) [MISCELLANEOUS]
Normal hair at birth [MISCELLANEOUS]
Caused by mutation in the hephaestin-like protein-1 gene (HEPHL1, 618455.0001) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 11q21
|
| tui | T047
|
| cui | C1849811
|
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