A hub for secure data sharing within the rare disorder community

About PhenomeCentral

PhenomeCentral is a repository for secure data sharing targeted to clinicians and scientists working in the rare disorder community. PhenomeCentral encourages global scientific collaboration while respecting the privacy of patients profiled in this centralized database. Once users enter their patients' data, they are connected to other patient profiles within PhenomeCentral that share similar phenotypes and genotypes.

Why you should join

PhenomeCentral enables the discovery of multiple individuals affected by the same unnamed disorder. Undiagnosed disorders may be present in only a handful of individuals seen at different hospitals and sequenced by different centers. The PhenomeCentral collaboration model enables effective and secure data-sharing techniques that allow clinicians and scientists to learn about the existence of cases similar to theirs, which eventually may help improve the understanding of disorder manifestations and confirm the underlying cause.

How it can help

The matching algorithms are sensitive to atypical phenotypic manifestations of disorders. The semantic model which is the basis of our matching process helps reveal subtle similarities between disorder manifestations and may provide justification for reconsidering diagnoses that were initially discarded due to atypical phenotypes.

A piece of the puzzle

PhenomeCentral is part of the MatchMaker Exchange collaborative effort to address the common challenge of exome and genome sequencing in both the research and clinical settings. We have developed a remote matching API for finding genotypically and phenotypically similar patients, to enable clinicians and scientists to transparently benefit from the various matchmaker services in the MatchMaker Exchange network. Please contact for further information about performing queries by example in the PhenomeCentral database.


Buske OJ*, Girdea M*, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, Robinson PN, Boerkoel CF, Adams D, Gahl WA, Boycott KM, Brudno M. 2015. PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases. Human Mutation, 36: 931–940. doi:10.1002/humu.22851 [BibTeX]

IRDiRC recommended

Founding consortia

CARE for RARE RD-Connect The NIH Undiagnosed Diseases Program

Reproducing or distributing this clinical information without permission from the institution that owns it is strictly forbidden.
PhenomeCentral version 1.0-milestone-7