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. 1Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of genetic/genomic originORPHA:730418 · 0 pubs · — interventional trials · low confidence
2. 2Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of not yet identified genetic/genomic causeORPHA:730415 · 0 pubs · — interventional trials · low confidence
3. 3Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorderORPHA:730421 · 0 pubs · — interventional trials · high confidence
4. 4Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndromeORPHA:724143 · 0 pubs · — interventional trials · low confidence
5. 5Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiencyORPHA:694937 · 0 pubs · — interventional trials · low confidence
6. 6Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndromeORPHA:324307 · 0 pubs · — interventional trials · high confidence
7. 7Conductive deafness-malformed external ear syndromeORPHA:3216 · 1 pubs · 0 interventional trials · high confidence
8. 8Hidrotic ectodermal dysplasia, Halal typeORPHA:1809 · 1 pubs · 0 interventional trials · high confidence
9. 916q24.1 microdeletion syndromeORPHA:352629 · 1 pubs · 0 interventional trials · high confidence
10. 10Bile acid CoA ligase deficiency and defective amidationORPHA:276066 · 1 pubs · 0 interventional trials · high confidence
11. 11Cardiocranial syndrome, Pfeiffer typeORPHA:2872 · 1 pubs · 0 interventional trials · high confidence
12. 12Intellectual disability-balding-patella luxation-acromicria syndromeORPHA:3041 · 3 pubs · 0 interventional trials · high confidence
13. 13Paternal uniparental disomy of chromosome X syndromeORPHA:261524 · 1 pubs · 0 interventional trials · high confidence
14. 14Ptosis-vocal cord paralysis syndromeORPHA:2997 · 1 pubs · 0 interventional trials · high confidence
15. 15Thiemann disease, familial formORPHA:3314 · 1 pubs · 0 interventional trials · high confidence
16. 16Thoracic dysplasia-hydrocephalus syndromeORPHA:1861 · 1 pubs · 0 interventional trials · high confidence
17. 17Thoracomelic dysplasiaORPHA:1803 · 1 pubs · 0 interventional trials · high confidence
18. 18Autosomal dominant optic atrophy and peripheral neuropathyORPHA:250932 · 1 pubs · 0 interventional trials · high confidence
19. 19Coloboma of eye lensORPHA:98943 · 1 pubs · 0 interventional trials · high confidence
20. 20Contractures-webbed neck-micrognathia-hypoplastic nipples syndromeORPHA:314002 · 1 pubs · 0 interventional trials · high confidence
21. 21Cystadenoma of childhoodORPHA:206470 · 1 pubs · 0 interventional trials · high confidence
22. 22Diffused pleural mesotheliomaORPHA:675837 · 1 pubs · 0 interventional trials · high confidence
23. 23Ectodermal dysplasia with natal teeth, Turnpenny typeORPHA:69083 · 1 pubs · 0 interventional trials · high confidence
24. 24Hereditary palmoplantar keratoderma, Gamborg-Nielsen typeORPHA:86923 · 1 pubs · 0 interventional trials · high confidence
25. 25Intellectual disability-spasticity-ectrodactyly syndromeORPHA:1891 · 1 pubs · 0 interventional trials · high confidence
26. 26Macrocephaly-spastic paraplegia-dysmorphism syndromeORPHA:2429 · 1 pubs · 0 interventional trials · high confidence
27. 27Microcephaly-short stature-intellectual disability-facial dysmorphism syndromeORPHA:423306 · 1 pubs · 0 interventional trials · high confidence
28. 28Minimal pigment oculocutaneous albinism type 1ORPHA:352734 · 1 pubs · 0 interventional trials · high confidence
29. 29Non-hypoproteinemic hypertrophic gastropathyORPHA:329883 · 1 pubs · 0 interventional trials · high confidence
30. 30Non-syndromic anorectal malformation without fistulaORPHA:601002 · 1 pubs · 0 interventional trials · high confidence
31. 31Partial cryptophthalmiaORPHA:98950 · 1 pubs · 0 interventional trials · high confidence
32. 32Primary inferior vena cava aneurysmORPHA:652678 · 1 pubs · 0 interventional trials · high confidence
33. 33Rhizomelic syndrome, Urbach typeORPHA:3098 · 1 pubs · 0 interventional trials · high confidence
34. 34Tricho-retino-dento-digital syndromeORPHA:1264 · 1 pubs · 0 interventional trials · high confidence
35. 35Urban-Rogers-Meyer syndromeORPHA:3409 · 1 pubs · 0 interventional trials · high confidence
36. 364q25 proximal deletion syndromeORPHA:502437 · 1 pubs · 0 interventional trials · high confidence
37. 37Benign metanephric tumorORPHA:464359 · 1 pubs · 0 interventional trials · high confidence
38. 38Blindness-scoliosis-arachnodactyly syndromeORPHA:171844 · 1 pubs · 0 interventional trials · high confidence
39. 39Brachydactyly-preaxial hallux varus syndromeORPHA:1278 · 1 pubs · 0 interventional trials · high confidence
40. 40Combined cervical dystoniaORPHA:370114 · 1 pubs · 0 interventional trials · low confidence
41. 41Congenital muscular dystrophy-infantile cataract-hypogonadism syndromeORPHA:1875 · 1 pubs · 0 interventional trials · high confidence
42. 42Digenic hemochromatosisORPHA:648581 · 1 pubs · 0 interventional trials · high confidence
43. 43Dysraphism-cleft lip/palate-limb reduction defects syndromeORPHA:2476 · 1 pubs · 0 interventional trials · high confidence
44. 44Focal palmoplantar keratoderma with joint keratosesORPHA:370002 · 1 pubs · 0 interventional trials · high confidence
45. 45Furuncular myiasis due to Cordylobia rodhainiORPHA:563690 · 1 pubs · 0 interventional trials · high confidence
46. 46Gallblader arteriovenous malformationORPHA:693869 · 1 pubs · 0 interventional trials · high confidence
47. 47Growth delay-hydrocephaly-lung hypoplasia syndromeORPHA:3035 · 1 pubs · 0 interventional trials · high confidence
48. 48Hereditary motor and sensory neuropathy with acrodystrophyORPHA:90119 · 1 pubs · 0 interventional trials · high confidence
49. 49Homozygous hemoglobin O Arab diseaseORPHA:700111 · 1 pubs · 0 interventional trials · low confidence
50. 50Indomethacin embryofetopathyORPHA:1909 · 1 pubs · 0 interventional trials · high confidence
51. 51Isolated humeral agenesis/hypoplasiaORPHA:294973 · 1 pubs · 0 interventional trials · high confidence
52. 52Juvenile CLN6 diseaseORPHA:700472 · 1 pubs · 0 interventional trials · low confidence
53. 53Ketamine-induced biliary dilatationORPHA:293807 · 1 pubs · 0 interventional trials · high confidence
54. 54Marfanoid habitus-autosomal recessive intellectual disability syndromeORPHA:2463 · 1 pubs · 0 interventional trials · high confidence
55. 55Metaphyseal dysostosis-intellectual disability-conductive deafness syndromeORPHA:2502 · 1 pubs · 0 interventional trials · high confidence
56. 56Microcephalic primordial dwarfism, Toriello typeORPHA:2643 · 1 pubs · 0 interventional trials · high confidence
57. 57Nasal gangliogliomaORPHA:141115 · 1 pubs · 0 interventional trials · high confidence
58. 58Non-recovering obstetric brachial plexus lesionORPHA:439202 · 1 pubs · 0 interventional trials · high confidence
59. 59OculotrichodysplasiaORPHA:2718 · 1 pubs · 0 interventional trials · medium confidence
60. 60Odontomicronychial dysplasiaORPHA:1811 · 1 pubs · 0 interventional trials · high confidence
61. 61Pfeiffer-Palm-Teller syndromeORPHA:2871 · 1 pubs · 0 interventional trials · high confidence
62. 62Pierre Robin syndrome-faciodigital anomaly syndromeORPHA:2888 · 1 pubs · 0 interventional trials · high confidence
63. 63Primary autoimmune ear diseaseORPHA:730276 · 1 pubs · 0 interventional trials · low confidence
64. 64Splenic venous malformationORPHA:688523 · 1 pubs · 0 interventional trials · high confidence
65. 65Syndactyly-polydactyly-ear lobe syndromeORPHA:3259 · 1 pubs · 0 interventional trials · high confidence
66. 66Syngnathia-cleft palate syndromeORPHA:3263 · 1 pubs · 0 interventional trials · high confidence
67. 67Tay-Sachs disease, juvenile formORPHA:309185 · 1 pubs · 0 interventional trials · high confidence
68. 68Trigonocephaly-broad thumbs syndromeORPHA:3365 · 1 pubs · 0 interventional trials · high confidence
69. 69Absence of uterine bodyORPHA:180142 · 1 pubs · 0 interventional trials · high confidence
70. 70Congenitally short costocoracoid ligamentORPHA:2391 · 1 pubs · 0 interventional trials · high confidence
71. 71Early-onset progressive encephalopathy with migrant continuous myoclonusORPHA:1943 · 1 pubs · 0 interventional trials · high confidence
72. 72Familial isolated trichomegalyORPHA:411788 · 1 pubs · 0 interventional trials · high confidence
73. 73Frontotemporal dementia, right temporal atrophy variantORPHA:293848 · 1 pubs · 0 interventional trials · low confidence
74. 74Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndromeORPHA:730327 · 1 pubs · 0 interventional trials · low confidence
75. 75Hyperkeratosis-hyperpigmentation syndromeORPHA:1336 · 1 pubs · 0 interventional trials · high confidence
76. 76Laryngotracheoesophageal cleft type 0ORPHA:280205 · 1 pubs · 0 interventional trials · high confidence
77. 77Maternal uniparental disomy of chromosome 13 syndromeORPHA:97678 · 1 pubs · 0 interventional trials · high confidence
78. 78Paternal uniparental disomy of chromosome 13 syndromeORPHA:99324 · 1 pubs · 0 interventional trials · high confidence
79. 79Rubinstein-Taybi syndrome due to 16p13.3 microdeletionORPHA:353281 · 1 pubs · 0 interventional trials · high confidence
80. 80Short-limb skeletal dysplasia with severe combined immunodeficiencyORPHA:935 · 1 pubs · 0 interventional trials · high confidence