Rare Disease
Therapeutic area hub — diseases sorted by prevalence signal.
- Diseases
- 2,318
- Top-row linked drugs
- 27
- Top-row references
- 12
- Sort
- Prevalence
| Disease | Rarity | Prevalence | Drugs | Refs |
|---|---|---|---|---|
| systemic lupus erythematosus MONDO:0005187 | rare | ~500k patients (est.) | 1162 | 0 |
| sickle cell disease MONDO:0005079 | rare | ~100k US / ~20M globally (est.) | 22 | 0 |
| systemic lupus erythematosus MONDO:0007915 | rare | ~500k patients (est.) | 67 | 0 |
| sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant MONDO:0979354 | rare | ~100k US / ~20M globally (est.) | 0 | 0 |
| sickle cell disease MONDO:0011382 | rare | ~100k US / ~20M globally (est.) | 7 | 0 |
| hemophilia A MONDO:0010602 | ultra rare | ~400k patients (est.) | 9 | 0 |
| hemophilia A MONDO:0009691 | ultra rare | ~400k patients (est.) | 106 | 0 |
| nephrotic syndrome MONDO:0005377 | rare | ~100k patients (est.) | 317 | 0 |
| occipital horn syndrome MONDO:0010572 | rare | ~100k patients (est.) | 1 | 0 |
| cytokine release syndrome MONDO:0600008 | rare | ~100k patients (est.) | 2 | 0 |
| restless legs syndrome MONDO:0005391 | rare | ~100k patients (est.) | 116 | 0 |
| congenital adrenal hyperplasia MONDO:0018479 | rare | ~100k patients (est.) | 1186 | 0 |
| idiopathic pulmonary fibrosis MONDO:0007263 | rare | ~100k patients (est.) | 60 | 0 |
| Prader-Willi syndrome MONDO:0008300 | rare | ~100k patients (est.) | 6 | 0 |
| irritable bowel syndrome MONDO:0005052 | rare | ~100k patients (est.) | 271 | 0 |
| Hutchinson-Gilford progeria syndrome MONDO:0008310 | rare | ~100k patients (est.) | 1 | 0 |
| congenital heart disease MONDO:0005453 | rare | ~100k patients (est.) | 126 | 0 |
| congenital or acquired MONDO:0021139 | rare | ~100k patients (est.) | 451 | 0 |
| idiopathic pulmonary fibrosis MONDO:0800504 | rare | ~100k patients (est.) | 44 | 0 |
| Lennox-Gastaut syndrome MONDO:0016532 | rare | ~100k patients (est.) | 533 | 0 |
| Wiskott-Aldrich syndrome MONDO:0010518 | rare | ~100k patients (est.) | 5 | 0 |
| Zollinger-Ellison syndrome MONDO:0019610 | rare | ~100k patients (est.) | 1165 | 0 |
| acute radiation syndrome MONDO:0033938 | rare | ~100k patients (est.) | 9 | 0 |
| Duchenne muscular dystrophy MONDO:0010679 | rare | ~100k patients (est.) | 20 | 0 |
| carcinoid syndrome MONDO:0100347 | rare | ~100k patients (est.) | 10 | 0 |
| Sjogren syndrome, domestic cat MONDO:7770552 | rare | ~100k patients (est.) | 0 | 0 |
| polyendocrine syndrome, dog MONDO:7770380 | rare | ~100k patients (est.) | 0 | 0 |
| paroxysmal dystonia-ataxia syndrome, TNR-related, dog MONDO:7770208 | rare | ~100k patients (est.) | 0 | 0 |
| Sharpin-related autoinflammatory syndrome MONDO:1040029 | rare | ~100k patients (est.) | 0 | 0 |
| periodic fever syndrome, HAS2-related, dog MONDO:1013791 | rare | ~100k patients (est.) | 0 | 0 |
| tumor lysis syndrome, non-human animal MONDO:1013230 | rare | ~100k patients (est.) | 0 | 0 |
| perinatal mortality syndrome, GCK-related, cattle MONDO:1012939 | rare | ~100k patients (est.) | 0 | 0 |
| Waardenburg syndrome, MITF-related, golden hamster MONDO:1012677 | rare | ~100k patients (est.) | 0 | 0 |
| Waardenburg syndrome, domestic cat MONDO:1011617 | rare | ~100k patients (est.) | 0 | 0 |
| Phelan-McDermid syndrome, crab-eating macaque MONDO:1010425 | rare | ~100k patients (est.) | 0 | 0 |
| persistent Mullerian duct syndrome, non-human animal MONDO:1010278 | rare | ~100k patients (est.) | 0 | 0 |
| stiff skin syndrome, non-human animal MONDO:1010147 | rare | ~100k patients (est.) | 0 | 0 |
| TFAP2B-related congenital heart disease spectrum disorder MONDO:1010098 | rare | ~100k patients (est.) | 0 | 0 |
| Meier-Gorlin syndrome 9 MONDO:0980992 | rare | ~100k patients (est.) | 0 | 0 |
| multiple mitochondrial dysfunctions syndrome 7 MONDO:0957382 | rare | ~100k patients (est.) | 0 | 0 |
| Radio-Tartaglia syndrome MONDO:0859143 | rare | ~100k patients (est.) | 0 | 0 |
| neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy MONDO:0800490 | rare | ~100k patients (est.) | 0 | 0 |
| Stüve-Wiedemann syndrome 1 MONDO:0800043 | rare | ~100k patients (est.) | 0 | 0 |
| newborn respiratory distress syndrome MONDO:0700081 | rare | ~100k patients (est.) | 0 | 0 |
| SOX11-related complex neurodevelopmental disorder with or without congenital anomalies MONDO:0100626 | rare | ~100k patients (est.) | 0 | 0 |
| Jeune syndrome - GRK2-related MONDO:0100583 | rare | ~100k patients (est.) | 0 | 0 |
| RBFOX2-related congenital heart disorder MONDO:0100557 | rare | ~100k patients (est.) | 0 | 0 |
| Sunflower syndrome MONDO:0100529 | rare | ~100k patients (est.) | 0 | 0 |
| NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction MONDO:0100520 | rare | ~100k patients (est.) | 0 | 0 |
| multiple congenital anomalies due to 14q32.2 paternally expressed gene defect MONDO:0100507 | rare | ~100k patients (est.) | 0 | 0 |
| NTHL1-deficiency tumor predisposition syndrome MONDO:0100502 | rare | ~100k patients (est.) | 0 | 0 |
| multiple congenital anomalies due to 14q32.2 imprinting defect MONDO:0100499 | rare | ~100k patients (est.) | 0 | 0 |
| titinopathy with congenital contractures MONDO:0100497 | rare | ~100k patients (est.) | 0 | 0 |
| MECOM-associated syndrome MONDO:0100458 | rare | ~100k patients (est.) | 0 | 0 |
| port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:0100367 | rare | ~100k patients (est.) | 0 | 0 |
| POLD1-related polyposis and colorectal cancer syndrome MONDO:0100351 | rare | ~100k patients (est.) | 0 | 0 |
| LADD syndrome 1 MONDO:0100302 | rare | ~100k patients (est.) | 0 | 0 |
| Olmsted syndrome 1 MONDO:0100296 | rare | ~100k patients (est.) | 0 | 0 |
| POLE-related polyposis and colorectal cancer syndrome MONDO:0100287 | rare | ~100k patients (est.) | 0 | 0 |
| overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes MONDO:0100283 | rare | ~100k patients (est.) | 0 | 0 |
| Roberts-SC phocomelia syndrome MONDO:0100253 | rare | ~100k patients (est.) | 0 | 0 |
| restless legs syndrome, susceptibility to MONDO:0100170 | rare | ~100k patients (est.) | 0 | 0 |
| retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155 | rare | ~100k patients (est.) | 0 | 0 |
| Dravet syndrome MONDO:0100135 | rare | ~100k patients (est.) | 3 | 0 |
| Uner Tan Syndrome MONDO:0100144 | rare | ~100k patients (est.) | 0 | 0 |
| pediatric acute respiratory distress syndrome MONDO:0100131 | rare | ~100k patients (est.) | 0 | 0 |
| NAA10-related syndrome MONDO:0100124 | rare | ~100k patients (est.) | 0 | 0 |
| Middle East respiratory syndrome MONDO:0100116 | rare | ~100k patients (est.) | 0 | 0 |
| Zinner syndrome MONDO:0100109 | rare | ~100k patients (est.) | 0 | 0 |
| LEOPARD syndrome 1 MONDO:0100082 | rare | ~100k patients (est.) | 0 | 0 |
| acute coronary syndrome MONDO:0005542 | rare | ~100k patients (est.) | 162 | 0 |
| SLC10A7-congenital disorder of glycosylation MONDO:0100068 | rare | ~100k patients (est.) | 0 | 0 |
| Usher syndrome, type 1D/F MONDO:0100050 | rare | ~100k patients (est.) | 0 | 0 |
| neonatal/infantile epilepsy syndrome MONDO:0100022 | rare | ~100k patients (est.) | 0 | 0 |
| structural congenital heart disease, multiple types - GATA4 MONDO:0100009 | rare | ~100k patients (est.) | 0 | 0 |
| secondary mast cell activation syndrome MONDO:0100006 | rare | ~100k patients (est.) | 0 | 0 |
| MED12-related intellectual disability syndrome MONDO:0100000 | rare | ~100k patients (est.) | 0 | 0 |
| orofaciodigital syndrome 18 MONDO:0054770 | rare | ~100k patients (est.) | 0 | 0 |
| Stankiewicz-Isidor syndrome MONDO:0054591 | rare | ~100k patients (est.) | 0 | 0 |
| large congenital melanocytic nevus MONDO:0044792 | rare | ~100k patients (est.) | 0 | 0 |
| nephrotic syndrome of childhood - steroid sensitive MONDO:0044781 | rare | ~100k patients (est.) | 0 | 0 |
| X-linked congenital stationary night blindness MONDO:0044749 | rare | ~100k patients (est.) | 0 | 0 |
| muscular dystrophy MONDO:0020121 | rare | ~100k patients (est.) | 20 | 0 |
| Rahman syndrome MONDO:0044323 | rare | ~100k patients (est.) | 0 | 0 |
| Shwachman-Diamond syndrome 1 MONDO:0044204 | rare | ~100k patients (est.) | 0 | 0 |
| Jaffer-Beighton syndrome MONDO:0023510 | rare | ~100k patients (est.) | 0 | 0 |
| Jacobsen syndrome, cattle MONDO:1010516 | rare | ~100k patients (est.) | 0 | 0 |
| intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome MONDO:0034991 | rare | ~100k patients (est.) | 0 | 0 |
| Jervell and Lange-Nielsen syndrome 1 MONDO:0024540 | rare | ~100k patients (est.) | 0 | 0 |
| Jeune syndrome MONDO:0018770 | rare | ~100k patients (est.) | 0 | 0 |
| isolated congenital auditory ossicle malformation MONDO:0015570 | rare | ~100k patients (est.) | 0 | 0 |
| isolated congenital megalocornea MONDO:0010649 | rare | ~100k patients (est.) | 0 | 0 |
| Jawad syndrome MONDO:0009622 | rare | ~100k patients (est.) | 0 | 0 |
| jaw-winking syndrome MONDO:0007946 | rare | ~100k patients (est.) | 0 | 12 |
| Jacobsen syndrome MONDO:0007838 | rare | ~100k patients (est.) | 0 | 0 |
| isolated congenital anosmia MONDO:0007137 | rare | ~100k patients (est.) | 0 | 0 |
| Kariminejad neurodevelopmental syndrome MONDO:0975795 | rare | ~100k patients (est.) | 0 | 0 |
| Karayol-Borroto-Haghshenas neurodevelopmental syndrome MONDO:0975836 | rare | ~100k patients (est.) | 0 | 0 |
| Kaplowitz-Bodurtha syndrome MONDO:0023538 | rare | ~100k patients (est.) | 0 | 0 |
| juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523 | rare | ~100k patients (est.) | 0 | 0 |