Additional Disease Briefs

Get Information about a Rare Disease

Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

Interested in exploring the database in detail?
Click here to explore the database in alphabetical order.

NORD Summit 2026 Banner Ad
Rare Disease Database Reports Additional Rare Disease Briefs
chromosome 9p deletion syndrome

Also known as: 9p deletion, 9p deletion syndrome, 9p monosomy, 9p syndrome, 9p- syndrome, Alfi syndrome, chromosome 9p deletion, deletion 9p, monosomy 9p, monosomy 9p syndrome, monosomy type 9p, partial deletion of chromosome 9p, partial deletion of the short arm of chromosome 9, partial deletion of the short arm of chromosome type 9, partial monosomy 9p, partial monosomy of chromosome 9p, partial monosomy of the short arm of chromosome 9

chromosome Xp11.22 duplication syndrome

Also known as: Xp11.22 microduplication syndrome, Xp11.22-linked intellectual disability, chromosome Xp11.22 duplication syndrome, intellectual disability, X-linked 17, intellectual disability, X-linked 31, mental retardation, X-linked 17, mental retardation, X-linked 31

chromosome Xp11.23-p11.22 duplication syndrome

Also known as: Xp11.22-p11.23 Microduplication, chromosome Xp11.23-p11.22 duplication syndrome, chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant, microduplication Xp11.22-p11.23 syndrome, trisomy Xp11.22-p11.23

chromosome Xp21 deletion syndrome

Also known as: Complex Glycerol kinase deficiency, Del(X)(p21), Glycerol kinase deficiency-contiguous gene syndrome, Xp21 contiguous gene deletion syndrome, Xp21 microdeletion syndrome, chromosome Xp21 deletion syndrome, complex glycerol kinase deficiency, monosomy Xp21

chronic atrial and intestinal dysrhythmia

Also known as: Cohesinopathy affecting heart and gut rhythm, caid, caid syndrome, chronic atrial and intestinal dysrhythmia, chronic atrial and intestinal dysrhythmia syndrome, chronic atrial dysrhythmia-intestinal motility disorder, chronic atrial intestinal dysrhythmia syndrome

chronic beryllium disease

Also known as: Beryllliosis, Subacute berylliosis, acute berylliosis, berylliosis, beryllium disease, beryllium poisoning, chronic berylliosis, chronic beryllium lung disease, chronic pulmonary berylliosis, reversible berylliosis

  2. 1
  3. ...
  4. 215
  5. 216
  6. 217
  7. 218
  8. 219
  9. 220
  10. 221
  11. ...
  12. 1032