Information on Genetic Syndromes

Specialist information on genetic disease, useful for those practicing in clinical genetics, but a number of resources may also be useful to the general physician/pediatrician

Orphanet - Encyclopaedia for Patients and Encyclopaedia for Professionals

Orphanet is the reference portal for information on rare diseases and orphan drugs. It offers a range of freely accessible services including an encyclopaedia of rare diseases in six languages, an inventory of orphan drugs, a directory of specialised services, emergency care and anaesthetic guidelines for specific conditions and access to the Orphanet data.

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Online Mendelian Inheritance in Man (OMIM)

OMIM is an online catalogue of human genes and genetic disorders.  Extensive information is available on the clinical features, genotype, inheritance, pathogenesis, diagnosis and management of each condition.  It is produced and curated at the Johns Hopkins University School of Medicine.

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Human Phenotype Ontology

The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as atrial septal defect. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. HPO currently contains approximately 11,000 terms (still growing) and over 115,000 annotations to hereditary diseases. The HPO also provides a large set of HPO annotations to approximately 4000 common diseases.

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NCBI Bookshelf GeneReviews

GeneReviews is a resource intended for clinicians, in particular those working in the field of Clinical Genetics.  It contains up to date, peer reviewed clinical information on the diagnosis and management of an extensive range of genetic disorders as well as their recurrence risks and information on genetic counselling.

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Face2Gene can be used online or as an App as a reference tool regarding syndrome diagnosis. The user takes a photo of the face of the patient, and inputs additional phenotypic information, which will then be matched to possible syndromes.  Face2Gene is designated to be used solely by healthcare professionals and should not be used by anyone without proper medical training. It is a search & reference tool provided for informational purposes and not intended to replace the clinician’s judgment or experience, nor should it be used to diagnose or treat medical conditions. The App is free, but extra resources are available with a paid subscription.

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Possum web database

POSSUMweb is a dysmorphology database of multiple malformations, metabolic, teratogenic, chromosomal and skeletal syndromes and their images - for learning and diagnosis.  The platform provides a flexible search facility, saves time and effort in researching and cross-referencing syndrome information.

Please note that POSSUMweb requires a PAID subscription.

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National Organization for Rare Disorders (NORD)

The National Organization for Rare Disorders is a non-profit organization that provides information for both families and their healthcare providers.  It also acts as a patient advocacy body and assists patients with access to specialist treatments.  NORD also administers research grants to encourage the study of rare diseases.

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U.S.  National Library of Medicine.  Genetics Home Reference

Genetics Home Reference is the National Library of Medicine website for consumer information about genetic conditions and the genes or chromosomes associated with those conditions.  Information is available on genes, chromosomes, mitochondrial DNA and their associated health conditions.

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Current Topics in Genome Analysis 2016

A series of 14 lectures covering contemporary areas in genomics and bioinformatics.

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