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
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
DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20	View info
DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM	View info
DIABETES MELLITUS, KETOSIS-PRONE; KPD	View info
DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; NDH	View info
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	View info
DIABETES MELLITUS, PERMANENT NEONATAL; PNDM	View info
DIABETES MELLITUS, TRANSIENT NEONATAL, 2	View info
DIAMOND-BLACKFAN ANEMIA 10; DBA10	View info
DIAMOND-BLACKFAN ANEMIA 12; DBA12	View info
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15	View info
DIAMOND-BLACKFAN ANEMIA 1; DBA1	View info
DIAMOND-BLACKFAN ANEMIA 3; DBA3	View info
DIAMOND-BLACKFAN ANEMIA 4; DBA4	View info
DIAMOND-BLACKFAN ANEMIA 5; DBA5	View info
DIAPHANOSPONDYLODYSOSTOSIS	View info
DIAPHRAGMATIC HERNIA, CONGENITAL	View info
DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1	View info

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