Rare diseases

Rare diseases are among the hardest to diagnose. We believe medical doctors would benefit from an organised list of disorders from the disparate organisations and medical resources available. In the same way NORD and Eurodis provide information and support for patients, we collaborate with and provide information for health researchers and professionals. From here you can browse orphan, genetic or rare disorders along with summary statistics and links to further information.

Rare Diseases by name

Name
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35	View info
MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB	View info
MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE; MRXSBRK	View info
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC	View info
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH	View info
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ	View info
MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH	View info
MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG	View info
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN	View info
MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST	View info
MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE	View info
MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM	View info
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1	View info
MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; MMDK	View info
MESOTHELIOMA, MALIGNANT; MESOM	View info
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION; MECRCN	View info
METACARPAL 4-5 FUSION; MF4	View info
METACHONDROMATOSIS; METCDS	View info
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY	View info
METACHROMATIC LEUKODYSTROPHY, ADULT FORM	View info

104 of 172