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, X-LINKED 5; DFNX5	View info
DEAFNESS-INFERTILITY SYNDROME; DIS	View info
DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME	View info
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1	View info
DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2	View info
DEMENTIA, LEWY BODY; DLB	View info
DENTAL ANOMALIES AND SHORT STATURE; DASS	View info
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA	View info
DENTIN DYSPLASIA, TYPE II; DTDP2	View info
DENTINOGENESIS IMPERFECTA 1; DGI1	View info
DENYS-DRASH SYNDROME; DDS	View info
DERMATOFIBROSARCOMA PROTUBERANS; DFSP	View info
DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR	View info
DESANTO-SHINAWI SYNDROME; DESSH	View info
DESBUQUOIS DYSPLASIA 2; DBQD2	View info
DESMOID DISEASE, HEREDITARY	View info
DESMOSTEROLOSIS	View info
DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY	View info
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR; DEDSSH	View info
DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD	View info

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