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
TUBEROUS SCLEROSIS 1; TSC1	View info
TUBEROUS SCLEROSIS 2; TSC2	View info
TUMOR PREDISPOSITION SYNDROME; TPDS	View info
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC	View info
TYLOSIS WITH ESOPHAGEAL CANCER; TOC	View info
TYPICAL NEMALINE MYOPATHY	View info
TYROSINEMIA, TYPE I; TYRSN1	View info
TYROSINEMIA, TYPE II; TYRSN2	View info
TYROSINEMIA, TYPE III; TYRSN3	View info
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1	View info
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2	View info
ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY	View info
ULNAR-MAMMARY SYNDROME; UMS	View info
ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY	View info
UNC119, C. ELEGANS, HOMOLOG OF; UNC119	View info
UNCOMBABLE HAIR SYNDROME 2; UHS2	View info
UNCOMBABLE HAIR SYNDROME 3; UHS3	View info
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1	View info
URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	View info
UROFACIAL SYNDROME 1; UFS1	View info

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