Help
Print
Contact us
EN
FR
ES
DE
IT
PT
NL
PL
CS
Menu
Rare diseases
Search
Clinical Signs and Symptoms
Classifications
Genes
Disability
Encyclopaedia for patients
Encyclopaedia for professionals
Emergency guidelines
Orphan drugs
Search
Expert centres and Networks
Expert centres
Networks of expert centre
European reference networks
Diagnostic tests
Laboratories
Diagnostic tests
Research and trials
Research projects
Clinical trials
Registries & biobanks
Platforms
Patient organisations
Patient organisation
Federations/Alliances
Helplines for personal queries
Professionals and institutions
Institutions
Professionals
Network of experts
Get in touch
Other information
Quality charters
About orphan drugs
About Orphanet
About rare diseases
Orphanet Reports series
Orphanet Tutorials
Orphanet procedures
Orphanet produces its data according to published procedures
Read
Rare Diseases - European Commission
RD-Action
European Medicines Agency
IRDiRC
Office of rare diseases research (US)
EC Expert Group on Rare Diseases (EU)
European Reference Networks
OJRD
Orphanet Report Series
The portal for
rare diseases
and
orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
x
Share
Share
Homepage
Rare diseases
Search
Search for a
rare disease
*
(*) mandatory field
Search
Disease name
ORPHAcode
OMIM
ICD-10
Gene name or symbol
Other search option(s)
Alphabetical list
34 Result(s)
ORPHA:35664
ALDH18A1-related De Barsy syndrome
More information
ORPHA:14
Abetalipoproteinemia
More information
ORPHA:51
Aicardi-Goutières syndrome
More information
ORPHA:58
Alexander disease
More information
ORPHA:59
Allan-Herndon-Dudley syndrome
More information
ORPHA:425
Apolipoprotein A-I deficiency
More information
ORPHA:247815
Autosomal recessive ataxia due to PEX10 deficiency
More information
ORPHA:112
Bartter syndrome
More information
ORPHA:300
Bifunctional enzyme deficiency
More information
ORPHA:135
CACH syndrome
More information
ORPHA:90794
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
More information
ORPHA:191
Cockayne syndrome
More information
ORPHA:528
Congenital generalized lipodystrophy
More information
ORPHA:657
Congenital isolated hyperinsulinism
More information
ORPHA:205
Crigler-Najjar syndrome
More information
ORPHA:586
Cystic fibrosis
More information
ORPHA:309015
Familial lipoprotein lipase deficiency
More information
ORPHA:79292
Fish-eye disease
More information
ORPHA:681
Hypokalemic periodic paralysis
More information
ORPHA:88637
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
More information
ORPHA:436
Hypophosphatasia
More information
ORPHA:35069
Infantile neuroaxonal dystrophy
More information
ORPHA:68356
Leukodystrophy
More information
ORPHA:385
Neurodegeneration with brain iron accumulation
More information
ORPHA:702
Pelizaeus-Merzbacher disease
More information
ORPHA:79189
Peroxisome biogenesis disorder
More information
ORPHA:2524
Pontocerebellar hypoplasia type 2
More information
ORPHA:181422
Rare hyperlipidemia
More information
ORPHA:68367
Rare inborn errors of metabolism
More information
ORPHA:468726
Severe primary trimethylaminuria
More information
ORPHA:2882
Sitosterolemia
More information
ORPHA:31150
Tangier disease
More information
ORPHA:33364
Trichothiodystrophy
More information
ORPHA:89936
X-linked hypophosphatemia
More information
Rare Diseases Resources for Refugees/Displaced PersonsRare Diseases Resources for Refugees/Displaced Persons