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
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH	View info
PERIPHERAL RESISTANCE TO THYROID HORMONES	View info
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM	View info
PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1	View info
PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6	View info
PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7	View info
PERLMAN SYNDROME; PRLMNS	View info
PERMANENT NEONATAL DIABETES MELLITUS	View info
PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	View info
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD	View info
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A	View info
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A	View info
PEROXISOME BIOGENESIS DISORDER 14B; PEX14B	View info
PEROXISOME BIOGENESIS DISORDER 1B; PBD1B	View info
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A	View info
PEROXISOME BIOGENESIS DISORDER 3B; PBD3B	View info
PEROXISOME BIOGENESIS DISORDER 4B; PBD4B	View info
PEROXISOME BIOGENESIS DISORDER 7B; PBD7B	View info
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A	View info
PERRAULT SYNDROME 3; PRLTS3	View info

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