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
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
PELGER-HUET ANOMALY; PHA	View info
PELIZAEUS-MERZBACHER DISEASE; PMD	View info
PENDRED SYNDROME; PDS	View info
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	View info
PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT	View info
PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH	View info
PERIPHERAL DYSOSTOSIS	View info

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