Where research attention is thinnest

A ranking of research attention — publications, researchers, and interventional trials — not of patients, severity, or prognosis. Intended for researchers and funders scanning for gaps.

1. 116q24.1 microdeletion syndromeORPHA:352629 · 1 pubs · 0 interventional trials · high confidence
2. 2Gallblader arteriovenous malformationORPHA:693869 · 1 pubs · 0 interventional trials · high confidence
3. 3Nasal gangliogliomaORPHA:141115 · 1 pubs · 0 interventional trials · high confidence
4. 4Absence of uterine bodyORPHA:180142 · 1 pubs · 0 interventional trials · high confidence
5. 5Idiopathic copper-associated cirrhosisORPHA:209919 · 1 pubs · 0 interventional trials · high confidence
6. 6Machado-Joseph disease type 3ORPHA:276244 · 1 pubs · 0 interventional trials · high confidence
7. 7Fallot complex-intellectual disability-growth delay syndromeORPHA:3304 · 1 pubs · 0 interventional trials · high confidence
8. 8Late-onset familial hypoaldosteronismORPHA:556037 · 1 pubs · 0 interventional trials · high confidence
9. 9Distal myopathy, Welander typeORPHA:603 · 1 pubs · 0 interventional trials · medium confidence
10. 10Acquired schizencephalyORPHA:485275 · 1 pubs · 0 interventional trials · high confidence
11. 11Spastic paraplegia-neuropathy-poikiloderma syndromeORPHA:2821 · 2 pubs · 0 interventional trials · high confidence
12. 12Early-onset sutural cataractORPHA:98985 · 1 pubs · 0 interventional trials · high confidence
13. 13German syndromeORPHA:2077 · 4 pubs · 0 interventional trials · medium confidence
14. 14Say-Barber-Miller syndromeORPHA:3132 · 2 pubs · 0 interventional trials · high confidence
15. 15Ulerythema ophryogenesisORPHA:3406 · 1 pubs · 0 interventional trials · high confidence
16. 16Spigelian hernia-cryptorchidism syndromeORPHA:314432 · 2 pubs · 0 interventional trials · high confidence
17. 17Extrapulmonary non-tuberculous mycobacterial infectionORPHA:723223 · 3 pubs · 0 interventional trials · low confidence
18. 18Familial progressive vestibulocochlear dysfunctionORPHA:1767 · 4 pubs · 0 interventional trials · low confidence
19. 19Autosomal recessive cutis laxa type 2, classic typeORPHA:357074 · 1 pubs · 0 interventional trials · high confidence
20. 20Cryptorchidism-arachnodactyly-intellectual disability syndromeORPHA:1548 · 3 pubs · 0 interventional trials · high confidence
21. 21Tessier number 5 facial cleftORPHA:141261 · 3 pubs · 0 interventional trials · high confidence
22. 22AdrenomyodystrophyORPHA:977 · 3 pubs · 0 interventional trials · medium confidence
23. 23Vascular-like classical Ehlers-Danlos syndromeORPHA:230845 · 2 pubs · 0 interventional trials · low confidence
24. 24Pilodental dysplasia-refractive errors syndromeORPHA:2892 · 5 pubs · 0 interventional trials · high confidence
25. 25Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeORPHA:521445 · 1 pubs · 0 interventional trials · high confidence
26. 26Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndromeORPHA:686999 · 1 pubs · 19 interventional trials · low confidence
27. 2748,XYYY syndromeORPHA:99329 · 5 pubs · 0 interventional trials · high confidence
28. 28Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiencyORPHA:217467 · 1 pubs · 0 interventional trials · high confidence
29. 29Renal tubular dysgenesis of genetic originORPHA:97369 · 3 pubs · 0 interventional trials · high confidence
30. 30Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndromeORPHA:163654 · 3 pubs · 0 interventional trials · high confidence
31. 31Familial multiple trichoepitheliomaORPHA:867 · 5 pubs · 0 interventional trials · high confidence
32. 32X-linked intellectual disability, Turner typeORPHA:85328 · 3 pubs · 0 interventional trials · low confidence
33. 33Single-organ polyarteritis nodosaORPHA:439755 · 6 pubs · 0 interventional trials · high confidence
34. 34CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndromeORPHA:610573 · 1 pubs · 0 interventional trials · high confidence
35. 35External auditory canal aplasia/hypoplasiaORPHA:141074 · 5 pubs · 0 interventional trials · high confidence
36. 36Systemic cystic angiomatosis-Seip syndromeORPHA:1060 · 8 pubs · 0 interventional trials · low confidence
37. 37Progressive myoclonic epilepsy with dystoniaORPHA:352596 · 7 pubs · 1 interventional trials · medium confidence
38. 38Distal duplication 2q syndromeORPHA:96094 · 8 pubs · 0 interventional trials · high confidence
39. 39Sickle cell S-O Arab diseaseORPHA:700090 · 6 pubs · 0 interventional trials · low confidence
40. 40Mesomelic dysplasia, Savarirayan typeORPHA:85170 · 7 pubs · 0 interventional trials · high confidence
41. 41X-linked spinocerebellar ataxia type 3ORPHA:85297 · 5 pubs · 2 interventional trials · high confidence
42. 42Absence of innominate veinORPHA:99112 · 7 pubs · 0 interventional trials · high confidence
43. 43Cleft palate-large ears-small head syndromeORPHA:2013 · 8 pubs · 0 interventional trials · high confidence
44. 44Autosomal recessive limb-girdle muscular dystrophy, type 28ORPHA:653725 · 3 pubs · 1 interventional trials · high confidence
45. 45Combined oxidative phosphorylation defect type 9ORPHA:319509 · 6 pubs · 0 interventional trials · high confidence
46. 46Myelic limited dorsal malformationORPHA:645378 · 8 pubs · 0 interventional trials · high confidence
47. 47NAD(P)HX epimerase deficiencyORPHA:555407 · 5 pubs · 0 interventional trials · high confidence
48. 48Bowen syndromeORPHA:1271 · 14 pubs · 0 interventional trials · low confidence
49. 49Syndactyly type 5ORPHA:93406 · 7 pubs · 0 interventional trials · medium confidence
50. 50Carnitine palmitoyl transferase II deficiency, myopathic formORPHA:228302 · 4 pubs · 2 interventional trials · high confidence
51. 51Male infertility with azoospermia or oligozoospermia due to single gene mutationORPHA:399805 · 1 pubs · 75 interventional trials · low confidence
52. 52Deaf blind hypopigmentation syndrome, Yemenite typeORPHA:3214 · 16 pubs · 0 interventional trials · high confidence
53. 53DNA2-related mitochondrial DNA deletion syndromeORPHA:352470 · 6 pubs · 1 interventional trials · high confidence
54. 54Multiple epiphyseal dysplasia, Beighton typeORPHA:166011 · 9 pubs · 0 interventional trials · high confidence
55. 55X-linked intellectual disability, Shashi typeORPHA:85286 · 8 pubs · 0 interventional trials · high confidence
56. 56Frontonasal dysplasia-alopecia-genital anomalies syndromeORPHA:228390 · 8 pubs · 0 interventional trials · high confidence
57. 57Chudley-Lowry-Hoar syndromeORPHA:93971 · 14 pubs · 0 interventional trials · low confidence
58. 58Late-onset idiopathic chronic pancreatitisORPHA:700139 · 19 pubs · 0 interventional trials · low confidence
59. 59Johnson neuroectodermal syndromeORPHA:2316 · 18 pubs · 0 interventional trials · high confidence
60. 60Congenital pseudoarthrosis of the fibulaORPHA:295022 · 20 pubs · 0 interventional trials · high confidence
61. 61Adult Krabbe diseaseORPHA:206448 · 15 pubs · 0 interventional trials · high confidence
62. 62Mesomelic dwarfism, Reinhardt-Pfeiffer typeORPHA:2634 · 13 pubs · 0 interventional trials · high confidence
63. 63Sulfite oxidase deficiency due to molybdenum cofactor deficiency type CORPHA:308400 · 10 pubs · 0 interventional trials · high confidence
64. 64Acral self-healing collodion babyORPHA:281127 · 17 pubs · 0 interventional trials · high confidence
65. 65Autosomal dominant intermediate Charcot-Marie-Tooth disease type FORPHA:352670 · 12 pubs · 0 interventional trials · high confidence
66. 66Schisis associationORPHA:63862 · 35 pubs · 0 interventional trials · high confidence
67. 67Isolated segmental infantile hemangiomaORPHA:675380 · 25 pubs · 0 interventional trials · high confidence
68. 68Fibromuscular dysplasia of the coronary arteriesORPHA:698059 · 37 pubs · 0 interventional trials · low confidence
69. 69PURA-related severe neonatal hypotonia-seizures-encephalopathy syndromeORPHA:438213 · 20 pubs · 0 interventional trials · high confidence
70. 70Renal hypoplasia, bilateralORPHA:97362 · 21 pubs · 0 interventional trials · high confidence
71. 71Hyperprolinemia type 2ORPHA:79101 · 16 pubs · 0 interventional trials · high confidence
72. 72Congenital pancreatic cystORPHA:313906 · 42 pubs · 0 interventional trials · high confidence
73. 73Hypoplastic tibiae-postaxial polydactyly syndromeORPHA:3332 · 29 pubs · 0 interventional trials · low confidence
74. 74Benign tumor of fallopian tubesORPHA:180237 · 22 pubs · 1 interventional trials · high confidence
75. 75Neonatal renal venous thrombosisORPHA:664912 · 50 pubs · 0 interventional trials · medium confidence
76. 76RFVT2-related riboflavin transporter deficiencyORPHA:572543 · 18 pubs · 0 interventional trials · medium confidence
77. 77MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndromeORPHA:597874 · 18 pubs · 0 interventional trials · high confidence
78. 78Autosomal recessive hypohidrotic ectodermal dysplasiaORPHA:248 · 51 pubs · 0 interventional trials · high confidence
79. 79Autosomal recessive spastic paraplegia type 60ORPHA:401800 · 12 pubs · 18 interventional trials · high confidence
80. 80Episodic ataxia type 4ORPHA:79136 · 22 pubs · 5 interventional trials · medium confidence