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Add new prefix for OMIA variants (#1172)
* Add new prefix for OMIA variants * Add integbio mapping * Fix JSON formatting * Add reviewer info --------- Co-authored-by: Ben Gyori <[email protected]>
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@@ -80307,6 +80307,71 @@ | |
}, | ||
"uri_format": "https://omia.org/phene/omia:$1" | ||
}, | ||
"omia.variant": { | ||
"biocontext": { | ||
"prefix": "OMIA" | ||
}, | ||
"contact": { | ||
"email": "[email protected]", | ||
"github": "ImkeTammen", | ||
"name": "Imke Tammen", | ||
"orcid": "0000-0002-5520-6597" | ||
}, | ||
"contributor_extras": [ | ||
{ | ||
"email": "[email protected]", | ||
"github": "ImkeTammen", | ||
"name": "Imke Tammen", | ||
"orcid": "0000-0002-5520-6597" | ||
} | ||
], | ||
"deprecated": false, | ||
"description": "Online Mendelian Inheritance in Animals (OMIA) is a catalogue/compendium of inherited disorders, other (single-locus) traits, and associated genes and variants in more than 500 vertebrate animal species (other than human, mouse, rats, zebrafish and western clawed frog, which have their own resources). The 'omia.variant' prefix is used for genetic variants associated with phenes listed in OMIA", | ||
"example": "1710", | ||
"example_extras": [ | ||
"620" | ||
], | ||
"homepage": "https://omia.org", | ||
"integbio": { | ||
"alt_name": "Online Mendelian Inheritance in Animals", | ||
"description": "OMIA is a database of inherited disorders, other (single-locus) traits, and genes in animals which is not include human, mouse and rat because of presence of their own resources. The records contain basical textual information, references, and links to OMIM, PubMed, and gene. The content on the site is manually curated.", | ||
"fairsharing": "biodbcore-000579", | ||
"homepage": "https://omia.org/home/", | ||
"information_keywords": [ | ||
"Bibliography/Documents" | ||
], | ||
"maintainer": "University of Sydney", | ||
"name": "OMIA", | ||
"prefix": "nbdc00153", | ||
"pubmeds": [ | ||
"12520001", | ||
"33156546" | ||
], | ||
"status": "Active", | ||
"target_keywords": [ | ||
"Genome/Gene", | ||
"Health/Disease" | ||
] | ||
}, | ||
"keywords": [ | ||
"disorders", | ||
"model organism database", | ||
"traits" | ||
], | ||
"mappings": { | ||
"biocontext": "OMIA", | ||
"integbio": "nbdc00153" | ||
}, | ||
"name": "OMIA variants", | ||
"pattern": "^\\d+$", | ||
"reviewer": { | ||
"email": "[email protected]", | ||
"github": "bgyori", | ||
"name": "Benjamin M. Gyori", | ||
"orcid": "0000-0001-9439-5346" | ||
}, | ||
"uri_format": "https://omia.org/variant/omia.variant:$1" | ||
}, | ||
"omiabis": { | ||
"aberowl": { | ||
"description": "An ontological version of MIABIS (Minimum Information About BIobank data Sharing)", | ||
|