Links - MetabERN

AECOM – Asociación Española para el Estudio de los Errores Congénitos del Metabolismo
APS – Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (Working group for paediatric metabolic disturbances, Germany)
ASIEM – Australasian Society for Inborn Errors of Metabolism
BIMDG – British Inherited Metabolic Disease Group
CLIMB – Children Living with Inherited Metabolic Diseases, UK
CORD – Canadian Organization for Rare Disorders
EBC – European Brain Council
ESGCT – European Society of Gene and Cell Therapy
EURORDIS – European Organisation for Rare Disorders
GARD – Genetic and Rare Diseases Information Center
Garrod Association – Canadian Association of Centres for Management of Hereditary Metabolic Diseases
IBBS – International Brain Barriers Society
I SIEM – Indian Society for Inborn Errors of Metabolism
ISNS – International Society for Neonatal Screening
NINDS – National Institute of Neurological Disorders and Stroke
NORD – National Organization for Rare Disorders, USA
NZORD – New Zealand Organisation for Rare Disorders
SEEIM – Sociedad Española de Errores Innatos del Metabolismo
SFEIM – Societé Française pour l’Étude des Erreurs Innées du Métabolisme
SIMD – Society for Inherited Metabolic Disorders
SISMME – Societa’ Italiana per lo Studio delle Malattie Metaboliche Ereditairie
SSIEM – The Society for Study of Inborn Errors of Metabolism

DiseaseInfoSearch.org – Spin-off for information about diseases and related support and advocacy networks.
Genetic Alliance – Nonprofit health advocacy organization devoted to promoting optimum health care for people suffering from genetic disorders
Genetic Conditions/Rare conditions Support groups
NORD – Patient Organization Database
Orphanet – The portal for rare diseases and orphan drugs
RareConnect – Connecting Rare Disease Patients Globally
SHCA – Specialised Healthcare Alliance

GeneReviews – expert-authored, peer-reviewed disease descriptions
MedlinePlus – Health Information Database of the U.S. National Library of Medicine (NLM)
Medscape – Web’s medical information and educational tools
MeSH – Medical Subject Headings
NCBI – National Center for Biotechnology Information
NHIC – National Health Information Center
NIH – National Institute of Health
NLM – U.S. National Library of Medicine
OMIM – Online Mendelian Inheritance in Man
PubMed – Free search engine accessing primarily the MEDLINE database of references and abstracts on life sciences and biomedical topics

Biochemical NomenclatureReports of IUPAC-IUBMB Joint Commission on Biochemical Nomenclature (JCBN) and Nomenclature Committee of the International Union of Biochemistry and Molecular Biology (NC-IUBMB)
Biocloud – Biocloud Search EnGene
GeneTests (Formerly Helix): A National Registry of DNA Diagnostic Laboratories and their tests
HGMD: Human Genetic Mutation Database, Cardiff.
ICD10 – International Statistical Classification of Diseases and Related Health Problems 10th Revision
National Center for Biotechnology Information : Home of NCBI, National Library of Medicine, and NIH
National Library of Medicine : Services and links from the NLM
OnLine Metabolic and Molecular Bases of Inherited Disease (OMMBID): The on-line version of the definitive text edited by Scriver et al.