Orphanet

GenCC Ref: GENCC:000110

Orphanet

This page is a summary of pilot submissions provided by Orphanet. Click here to be notified about GenCC updates.

Orphanet (www.orpha.net) is a knowledge base on rare diseases and orphan drugs, bridging the fields of healthcare and research. Orphanet, a network of 38 countries, aims to increase knowledge on rare diseases so as to improve the diagnosis, care, and treatment of rare diseases. Orphanet provides a medical terminology dedicated to rare diseases, the Orphanet nomenclature of rare diseases (ORPHA code) used in healthcare and research in Europe; it is annotated with curated scientific data, including rare disease-related genes.


Website
Personnel
Ana Rath
Email: ana.rath@inserm.fr

Assertion Criteria

Submissions

5330 total number of submissions
Filters:

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Diamond-Blackfan anemia
Submitted as: Orphanet:124
AD
09/14/2021
Evaluated
09/14/2021
Submitted
epidermodysplasia verruciformis
Submitted as: Orphanet:302
AR
09/14/2021
Evaluated
09/14/2021
Submitted
primary ciliary dyskinesia
Submitted as: Orphanet:244
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AD
09/14/2021
Evaluated
09/14/2021
Submitted
developmental and epileptic encephalopathy
Submitted as: Orphanet:1934
AD
09/14/2021
Evaluated
09/14/2021
Submitted
nephronophthisis 1
Submitted as: Orphanet:93592
AR
09/14/2021
Evaluated
09/14/2021
Submitted
diencephalic-mesencephalic junction dysplasia
Submitted as: Orphanet:319192
AR
09/14/2021
Evaluated
09/14/2021
Submitted
fetal akinesia deformation sequence 1
Submitted as: Orphanet:994
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive non-syndromic intellectual disability
Submitted as: Orphanet:88616
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Ehlers-Danlos syndrome, classic-like, 2
Submitted as: Orphanet:536532
AR
09/14/2021
Evaluated
09/14/2021
Submitted
familial idiopathic steroid-resistant nephrotic syndrome
Submitted as: Orphanet:656
AD
09/14/2021
Evaluated
09/14/2021
Submitted
bilateral striopallidodentate calcinosis
Submitted as: Orphanet:1980
AD
09/14/2021
Evaluated
09/14/2021
Submitted
primary ciliary dyskinesia
Submitted as: Orphanet:244
AD
09/14/2021
Evaluated
09/14/2021
Submitted
developmental and epileptic encephalopathy
Submitted as: Orphanet:1934
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive primary microcephaly
Submitted as: Orphanet:2512
AR
09/14/2021
Evaluated
09/14/2021
Submitted
spondyloepimetaphyseal dysplasia, sponastrime type
Submitted as: Orphanet:93357
AR
09/14/2021
Evaluated
09/14/2021
Submitted
amelogenesis imperfecta type 1
Submitted as: Orphanet:100031
AD
09/14/2021
Evaluated
09/14/2021
Submitted
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Submitted as: Orphanet:528084
AD
09/14/2021
Evaluated
09/14/2021
Submitted
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Submitted as: Orphanet:528084
AD
09/14/2021
Evaluated
09/14/2021
Submitted
orofaciodigital syndrome type 6
Submitted as: Orphanet:2754
AR
09/14/2021
Evaluated
09/14/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.