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
HOLT-ORAM SYNDROME; HOS	View info
HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY	View info
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	View info
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG	View info
HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA	View info
HSD10 MITOCHONDRIAL DISEASE; HSD10MD	View info
HUNTINGTON DISEASE-LIKE 1; HDL1	View info
HUNTINGTON DISEASE-LIKE 2; HDL2	View info
HUNTINGTON DISEASE; HD	View info
HURLER SYNDROME	View info
HURLER-SCHEIE SYNDROME	View info
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS	View info
HYALINE FIBROMATOSIS SYNDROME; HFS	View info
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS	View info
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1	View info
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2	View info
HYDROLETHALUS SYNDROME 2; HLS2	View info
HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD	View info
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA	View info
HYPER-IgD SYNDROME; HIDS	View info

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