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
DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108	View info
DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15	View info
DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A	View info
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36	View info
DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37	View info
DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39	View info
DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3	View info
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4	View info
DEAFNESS, AUTOSOMAL RECESSIVE 44; DFNB44	View info
DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49	View info
DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63	View info
DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A	View info
DEAFNESS, AUTOSOMAL RECESSIVE 89; DFNB89	View info
DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8	View info
DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93	View info
DEAFNESS, AUTOSOMAL RECESSIVE 98; DFNB98	View info
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH	View info
DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS	View info
DEAFNESS, X-LINKED 2; DFNX2	View info
DEAFNESS, X-LINKED 4; DFNX4	View info

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