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Resource:Albinism database

Name: Resource:Albinism database
Description: Database of mutations associated with all major known forms of oculocutaneous and ocular albinism. The Albinism Database is part of the Locus Specific Mutation Databases of the Human Genome Variation Society and accepts the submission of new mutations. A link is provided for submission of new mutations. Columns in the database include: Type of Albinism, Human Locus, OMIM Link, Link to Table of Mutations and Polymorphisms, and Map of Mutation Locations.
Abbreviation: Albinism Database
Parent Organization: University of Minnesota; Minnesota; USA, Resource:HGVS Locus Specific Mutation Databases
Resource Type(s): Data set, Data repository
Resource: Resource
URL: http://www.ifpcs.org/albinism/
Alt. URL(s): http://albinismdb.med.umn.edu/
*Id: nif-0000-06691
Related condition/disease: Oculocutaneous albinism, Ocular albinism, Albinism
Listed By: Resource:3DVC
Availability: Written permission required, The community can contribute to this resource
Keywords: Oculocutaneous albinism, deletion, mutation, Polymorphism, pigment, Data Set
Organism: Human
Link to OWL / RDF: Download this content as OWL/RDF

Curation status: Curated

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Notes

This page uses this default form:Resource

  • Page last modified on September 21, 2009.

Contributors

Aarnaud, Akash, Ccdbuser, Memartone



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*Note: Neurolex imports many terms and their ids from existing community ontologies, e.g., the Gene Ontology. Neurolex, however, is a dynamic site and any content beyond the identifier should not be presumed to reflect the content or views of the source ontology. Users should consult with the authoritative source for each ontology for current information.

Facts about Resource:Albinism databaseRDF feed
AbbrevAlbinism Database  +
AltURLhttp://albinismdb.med.umn.edu/  +
AvailabilityWritten permission required  +, and The community can contribute to this resource  +
CurationStatuscurated  +
DefiningCitationhttp://www.ifpcs.org/albinism/  +
DefinitionDatabase of mutations associated with all Database of mutations associated with all major known forms of oculocutaneous and ocular albinism. The Albinism Database is part of the Locus Specific Mutation Databases of the Human Genome Variation Society and accepts the submission of new mutations. A link is provided for submission of new mutations. Columns in the database include: Type of Albinism, Human Locus, OMIM Link, Link to Table of Mutations and Polymorphisms, and Map of Mutation Locations. ymorphisms, and Map of Mutation Locations.
ExampleImageAlbinism Database.PNG  +
Has default formThis property is a special property in this wiki.Resource  +
Has roleData set  +, and Data repository  +
Idnif-0000-06691  +
Is part ofUniversity of Minnesota; Minnesota; USA  +, and Resource:HGVS Locus Specific Mutation Databases  +
KeywordsOculocutaneous albinism  +, Deletion  +, Mutation  +, Polymorphism  +, Pigment  +, and Data Set  +
LabelResource:Albinism database  +
ListedbyResource:3DVC  +
ModifiedDate24 November 2014  +
Page has default formThis property is a special property in this wiki.Resource  +
Related diseaseOculocutaneous albinism  +, Ocular albinism  +, and Albinism  +
SpeciesHuman  +
SuperCategoryResource  +