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URL: https://phenodb.org/
Proper Citation: PhenoDB (RRID:SCR_016551)
Description: Database for phenotype genotype associations for humans. Used by clinical researchers to store standardized phenotypic information, diagnosis, and pedigree data and then run analyses on VCF files from individuals, families or cohorts with suspected Mendelian disease.
Resource Type: data or information resource, database
Defining Citation: PMID:25684268
Keywords: store, standardized, phenotype, genotype, Mendelian disease, mutation, next, generation, sequencing, data
Related Condition: Mendelian disease
Funding: NHGRI
Availability: Free, Registration required, Freely available for non commercial users
Resource Name: PhenoDB
Resource ID: SCR_016551
Expand Allhas parent organization |
Johns Hopkins University School of Medicine; Baltimore, Maryland; USA |
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Source: SciCrunch Registry (RRID:SCR_005400)
Description: Interactive portal for finding and submitting biomedical resources. Resources within SciCrunch have assigned RRIDs which are used to cite resources in scientific manuscripts. SciCrunch Registry, formerly NIF Registry, provides resources catalog. Allows to add new resources. Allows edit existing resources after registration. Curators are tasked with identifying and registering resources, examining data, writing configuration files to index and display data and keeping contents current.
URL: https://rrid.site/rin/sources/SCR_005400