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
WRINKLY SKIN SYNDROME; WSS	View info
X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA	View info
X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE	View info
X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME	View info
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	View info
X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME	View info
XANTHINURIA, TYPE II; XAN2	View info
XERODERMA PIGMENTOSUM	View info
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA	View info
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB	View info
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF	View info
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG	View info
XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV	View info
XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX	View info
XIA-GIBBS SYNDROME	View info
YAO SYNDROME; YAOS	View info
YOU-HOOVER-FONG SYNDROME; YHFS	View info
YUAN-HAREL-LUPSKI SYNDROME; YUHAL	View info
ZEBRA BODY MYOPATHY	View info
ZIMMERMANN-LABAND SYNDROME 1; ZLS1	View info

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