Agent Commons Collaborative Research

Autosomal dominant disease

Autosomal dominant form of disease.

Identifiers
MONDO:0000426
Part of
Autosomal genetic disease
Also known as
autosomal dominant disease or disorder · autosomal dominant hereditary disorder · autosomal dominant inherited disorder · disease or disorder, autosomal dominant · disease, autosomal dominant

Subtypes

All diseases Rare only
Disease Subtypes
  1. Intellectual disability, autosomal dominant MONDO:0100172 96
  2. Autosomal dominant nonsyndromic hearing loss MONDO:0019587 76
  3. Autosomal dominant cerebellar ataxia MONDO:0020380 64
  4. Neuronopathy, distal hereditary motor, autosomal dominant MONDO:0015362 20
  5. Autosomal dominant complex spastic paraplegia MONDO:0015087 15
  6. Autosomal dominant distal myopathy MONDO:0016108 15
  7. Early-onset autosomal dominant Alzheimer disease MONDO:0015140 14
  8. Neurofibromatosis MONDO:0021061 13
  9. Waardenburg syndrome MONDO:0018094 12
  10. Autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0019548 12
  11. Muscular dystrophy, limb-girdle, autosomal dominant MONDO:0015151 9
  12. Cowden disease MONDO:0016063 8
  13. Autosomal dominant polycystic kidney disease MONDO:0004691 7
  14. Loeys-Dietz syndrome MONDO:0018954 6
  15. Lynch syndrome MONDO:0005835 5
  16. NOG-related symphalangism spectrum disorder MONDO:0100521 NOG 5
  17. Autosomal dominant polycystic liver disease MONDO:0000447 5
  18. Autosomal dominant progressive external ophthalmoplegia MONDO:0008003 5
  19. Autosomal dominant titinopathy MONDO:0100494 5
  20. Blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:0007201 FOXL2 5
  21. Hereditary hemorrhagic telangiectasia MONDO:0019180 5
  22. Brooke-Spiegler syndrome MONDO:0011512 CYLD 4
  23. FLNB-associated autosomal dominant filamin related bone disorder MONDO:1060173 FLNB 4
  24. PTEN hamartoma tumor syndrome MONDO:0017623 4
  25. Timothy syndrome MONDO:0010979 4
  26. Treacher-Collins syndrome MONDO:0002457 4
  27. Autosomal dominant Emery-Dreifuss muscular dystrophy MONDO:0020336 4
  28. Autosomal dominant epidermolytic ichthyosis MONDO:0020702 4
  29. Autosomal dominant optic atrophy plus syndrome MONDO:0014720 4
  30. Autosomal dominant osteopetrosis MONDO:0020645 4
  31. Carney complex MONDO:0015285 3
  32. LADD syndrome MONDO:0007872 3
  33. Noonan syndrome with multiple lentigines MONDO:0007893 3
  34. Autosomal dominant Robinow syndrome MONDO:0008389 3
  35. Autosomal dominant cutis laxa MONDO:0019571 3
  36. Autosomal dominant primary microcephaly MONDO:0007988 3
  37. Autosomal dominant severe congenital neutropenia MONDO:0008742 3
  38. Autosomal dominant spastic ataxia MONDO:0017846 3
  39. Blepharocheilodontic syndrome MONDO:0007339 3
  40. Monilethrix MONDO:0008009 3
  41. Birt-Hogg-Dube syndrome MONDO:0800444 2
  42. Duane-radial ray syndrome MONDO:0011812 SALL4 2
  43. EEC syndrome MONDO:0010004 2
  44. Ehlers-Danlos syndrome, classic type MONDO:0007522 2
  45. Feingold syndrome MONDO:0015267 2
  46. NOTCH1-related AOS spectrum disorder MONDO:1060150 NOTCH1 2
  47. PROM1-related dominant retinopathy MONDO:1040053 2
  48. PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO:1060108 2
  49. Townes-Brocks syndrome MONDO:0007142 2
  50. Autosomal dominant chondrodysplasia punctata MONDO:0007321 2
  51. Autosomal dominant hypocalcemia MONDO:0018543 2
  52. Autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884 2
  53. Autosomal dominant ichthyosis vulgaris MONDO:0007810 FLG 2
  54. Autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO:0008264 2
  55. Branchio-oto-renal syndrome MONDO:0007029 2
  56. Hereditary breast ovarian cancer syndrome MONDO:0003582 2
  57. Nevoid basal cell carcinoma syndrome MONDO:0007187 2
  58. Proximal symphalangism MONDO:0008511 2
  59. Tuberous sclerosis MONDO:0001734 2
  60. ALPL-related autosomal dominant hypophosphatasia MONDO:0100608 1
  61. GUCY2D-related dominant retinopathy MONDO:0100441 1
  62. Holt-Oram syndrome MONDO:0007732 TBX5 1
  63. IMPG1-related dominant retinopathy MONDO:1040036 IMPG1 1
  64. Marfan syndrome MONDO:0007947 FBN1 1
  65. RPE65-related dominant retinopathy MONDO:0100452 RPE65 1
  66. Autosomal dominant cataract MONDO:0022672 1
  67. Cherubism MONDO:0007315 SH3BP2 1
  68. ADULT syndrome MONDO:0007072
  69. Alagille syndrome due to a JAG1 point mutation MONDO:0016862 JAG1
  70. BMPR1A-related juvenile polyposis syndrome MONDO:0700348
  71. Beare-Stevenson cutis gyrata syndrome MONDO:0007412 FGFR2
  72. Birk-Barel syndrome MONDO:0012856 KCNK9
  73. Charcot-Marie-Tooth disease, demyelinating, type 1G MONDO:0033135 PMP2
  74. Charcot-Marie-tooth disease, axonal, type 2DD MONDO:0054833 ATP1A1
  75. Coffin-Siris syndrome 6 MONDO:0033492 ARID2
  76. Costello syndrome MONDO:0009026 HRAS
  77. Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833 FGFR3
  78. Delpire-McNeill syndrome MONDO:0033667 SLC12A2
  79. Denys-Drash syndrome MONDO:0008682 WT1
  80. Flynn-Aird syndrome MONDO:0007624
  81. Frasier syndrome MONDO:0007635 WT1
  82. Houge-Janssens syndrome 2 MONDO:0014605 PPP2R1A
  83. LAMA5-related multisystemic syndrome MONDO:0033856 LAMA5
  84. Li-Fraumeni syndrome MONDO:0018875 TP53
  85. MAX-related tumor predisposition MONDO:0700346 MAX
  86. MYH10-related neurodevelopmental disorder with congenital anomalies MONDO:0700281 MYH10
  87. Muckle-Wells syndrome MONDO:0008633 NLRP3
  88. Muir-Torre syndrome MONDO:0008018
  89. P2RY12-related platelet disorder, autosomal dominant MONDO:1060234 P2RY12
  90. PCWH syndrome MONDO:0012198 SOX10
  91. Pelger-Huet anomaly MONDO:0008214 LBR
  92. Peutz-Jeghers syndrome MONDO:0008280 STK11
  93. Pilarowski-Bjornsson syndrome MONDO:0060568 CHD1
  94. RP1-related dominant retinopathy MONDO:0800400 RP1
  95. Rapp-Hodgkin syndrome MONDO:0007508
  96. TMEM127-related tumor predisposition MONDO:0700345 TMEM127
  97. Acroosteolysis dominant type MONDO:0007057 NOTCH2
  98. Amelogenesis imperfecta type 1B MONDO:0007092 ENAM
  99. Arthrogryposis, distal, type 2B2 MONDO:0032750 TNNT3
  100. Arthrogryposis, distal, type 2B3 MONDO:0032751 MYH3
  101. Autosomal dominant Aarskog syndrome MONDO:0007030
  102. Autosomal dominant Alport syndrome MONDO:0007086 COL4A3
  103. Autosomal dominant Ehlers-Danlos syndrome, vascular type MONDO:0007524 COL3A1
  104. Autosomal dominant Kenny-Caffey syndrome MONDO:0007478
  105. Autosomal dominant brachyolmia MONDO:0007232 TRPV4
  106. Autosomal dominant centronuclear myopathy MONDO:0008048 DNM2
  107. Autosomal dominant coarctation of aorta MONDO:0015445
  108. Autosomal dominant distal renal tubular acidosis MONDO:0008368 SLC4A1
  109. Autosomal dominant hypophosphatemic rickets MONDO:0008660 FGF23
  110. Autosomal dominant keratitis MONDO:0007848 PAX6
  111. Autosomal dominant keratitis-ichthyosis-hearing loss syndrome MONDO:0007850
  112. Autosomal dominant myoglobinuria MONDO:0008046
  113. Autosomal dominant nebulin-related myopathy MONDO:1010152 NEB
  114. Autosomal dominant oculocutaneous albinism MONDO:0040654
  115. Autosomal dominant omodysplasia MONDO:0008123 FZD2
  116. Autosomal dominant optic atrophy and peripheral neuropathy MONDO:0016646
  117. Autosomal dominant optic atrophy, classic form MONDO:0008134 OPA1
  118. Autosomal dominant popliteal pterygium syndrome MONDO:0007334 IRF6
  119. Autosomal dominant proximal renal tubular acidosis MONDO:0017829
  120. Autosomal dominant rhegmatogenous retinal detachment MONDO:0016202
  121. Autosomal dominant sideroblastic anemia MONDO:0008422 HSPA9
  122. Autosomal dominant spondylocostal dysostosis MONDO:0015826
  123. Autosomal dominant vibratory urticaria MONDO:0007447 ADGRE2
  124. Bleeding disorder, platelet-type, 24 MONDO:0030996 ITGB3
  125. Brain small vessel disease 2A, autosomal dominant MONDO:0013773 COL4A2
  126. Branchiooculofacial syndrome MONDO:0007235 TFAP2A
  127. Calcaneonavicular coalition MONDO:0008518
  128. Cataract-aberrant oral frenula-growth delay syndrome MONDO:0007277
  129. Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 MONDO:0000914 NOTCH3
  130. Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MONDO:0014768 HTRA1
  131. Cochleosaccular degeneration-cataract syndrome MONDO:0007346
  132. Colorectal cancer, hereditary nonpolyposis, type 6 MONDO:0013695 TGFBR2
  133. Colorectal cancer, hereditary nonpolyposis, type 7 MONDO:0013725 MLH3
  134. Congenital myopathy 4A, autosomal dominant MONDO:0800341
  135. Congenital stationary night blindness autosomal dominant 3 MONDO:0012497 GNAT1
  136. Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MONDO:0008338 MYH3
  137. Diffuse nonepidermolytic palmoplantar keratoderma MONDO:0010962 KRT1
  138. Distal arthrogryposis type 2B1 MONDO:0020820 TNNI2
  139. Dyskeratosis congenita, autosomal dominant 2 MONDO:0013521 TERT
  140. Dyskeratosis congenita, autosomal dominant 3 MONDO:0013522 TINF2
  141. Dyskeratosis congenita, autosomal dominant 6 MONDO:0014690
  142. Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss MONDO:0015006 KLHL24
  143. Familial antiphospholipid syndrome MONDO:8000014
  144. Fatty acyl-CoA reductase 1 upregulation MONDO:0100230
  145. Gastric adenocarcinoma and proximal polyposis of the stomach MONDO:0017790 APC
  146. Generalized juvenile polyposis/juvenile polyposis coli MONDO:0008276 SMAD4
  147. Hand-foot-genital syndrome MONDO:0007698 HOXA13
  148. Heart-hand syndrome, Slovenian type MONDO:0012417 LMNA
  149. Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome MONDO:0019195
  150. Hereditary retinoblastoma MONDO:0018160 RB1
  151. Hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0007818 STAT3
  152. Hyperkeratosis-hyperpigmentation syndrome MONDO:0007757
  153. Hypopigmentation-punctate palmoplantar keratoderma syndrome MONDO:0014227 ENPP1
  154. Inclusion body myopathy and brain white matter abnormalities MONDO:0850514 ANXA11
  155. Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism MONDO:0014376 SOX11
  156. Isolated congenital adermatoglyphia MONDO:0007619 SMARCAD1
  157. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0008278 SMAD4
  158. Macrocephaly-autism syndrome MONDO:0011537 PTEN
  159. Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 EFTUD2
  160. Melanoma, cutaneous malignant, susceptibility to, 2 MONDO:0007964 CDKN2A
  161. Microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0019407 COG4
  162. Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:0007918 KIF11
  163. Multiple cutaneous and mucosal venous malformations MONDO:0010842 TEK
  164. Multiple endocrine neoplasia type 1 MONDO:0007540 MEN1
  165. Multiple endocrine neoplasia type 2A MONDO:0008234 RET
  166. Multiple endocrine neoplasia type 2B MONDO:0008082 RET
  167. Multiple endocrine neoplasia type 4 MONDO:0012552 CDKN1B
  168. Nail-patella syndrome MONDO:0008061 LMX1B
  169. Neurohypophyseal diabetes insipidus MONDO:0007450 AVP
  170. Optic atrophy 3 MONDO:0008133 OPA3
  171. Optic atrophy 5 MONDO:0012543 DNM1L
  172. Palmoplantar keratoderma-spastic paralysis syndrome MONDO:0016353
  173. Pheochromocytoma/paraganglioma syndrome 1 MONDO:0008192 SDHD
  174. Pheochromocytoma/paraganglioma syndrome 2 MONDO:0011121 SDHAF2
  175. Pheochromocytoma/paraganglioma syndrome 3 MONDO:0011544 SDHC
  176. Pheochromocytoma/paraganglioma syndrome 4 MONDO:0007273 SDHB
  177. Piebaldism MONDO:0008244 KIT
  178. Platelet-type bleeding disorder 16 MONDO:0008552 ITGA2B
  179. Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0014369 GLI2
  180. Renal coloboma syndrome MONDO:0007352 PAX2
  181. Retinoschisis, autosomal dominant MONDO:0008382
  182. Scapuloperoneal spinal muscular atrophy, autosomal dominant MONDO:0008408 TRPV4
  183. Severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658 FGFR3
  184. Spastic paraplegia 30A, autosomal dominant MONDO:0700307
  185. Spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:0011335 KIF22
  186. Spondyloepiphyseal dysplasia tarda, autosomal dominant MONDO:0008474
  187. Thanatophoric dysplasia type 1 MONDO:0008546
  188. Thrombocytopenia 2 MONDO:0008555 ANKRD26
  189. Thrombophilia due to protein S deficiency, autosomal dominant MONDO:0012868 PROS1
  190. Trichorhinophalangeal syndrome type I MONDO:0008596 TRPS1
  191. Trichorhinophalangeal syndrome type II MONDO:0007874
  192. Von Hippel-Lindau disease MONDO:0008667

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