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
PARKINSON DISEASE, LATE-ONSET; PD	View info
PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS	View info
PARKINSONISM-DYSTONIA, INFANTILE; PKDYS	View info
PAROXYSMAL EXTREME PAIN DISORDER	View info
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1; PNH1	View info
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2; PNH2	View info
PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1	View info
PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY; PNKD3	View info
PARTIAL CHROMOSOME Y DELETION	View info
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS	View info
PATENT DUCTUS ARTERIOSUS 2; PDA2	View info
PATENT DUCTUS ARTERIOSUS 3; PDA3	View info
PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6	View info
PEDIATRIC HEPATOCELLULAR CARCINOMA	View info
PEELING SKIN SYNDROME 1; PSS1	View info
PEELING SKIN SYNDROME 2; PSS2	View info
PEELING SKIN SYNDROME 3; PSS3	View info
PEELING SKIN SYNDROME 5; PSS5	View info
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS; PLACK	View info
PEHO SYNDROME; PEHO	View info

131 of 172