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
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1	View info
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE	View info
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP	View info
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR	View info
POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX	View info
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA	View info
POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC	View info
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1	View info
POLYVALVULAR HEART DISEASE SYNDROME	View info
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B	View info
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C	View info
PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C	View info
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D	View info
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E	View info
PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3	View info
PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4	View info
PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6	View info
PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7	View info
PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8	View info
PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9	View info

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