Mental retardation
| Disease Term |
Disease ID |
Gene Symbol |
References |
| Moderate intellectual disability |
C0026351 |
|
| MENTAL RETARDATION, X-LINKED 88 (disorder) |
C3275444 |
|
| Mental Retardation, X-Linked Nonsyndromic |
C3501611 |
| AP1S2 |
2018058, 20203623, 22210230, 18428203, 27411398, 17186471, 17617514, 12599187, 10398241, 23756445, 25649377, 25128028 |
| HUWE1 |
25652354, 24303071, 26587761, 28445732, 19686682, 24960692, 18252223, 27418510, 27130160, 20231446, 18488021, 22840365, 23092983, 23721686, 27615324 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 |
C3809672 |
|
| Mental retardation Smith Fineman Myers type |
C0796159 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 |
C3280283 |
| KIF1A |
26354034, 26125038, 25265257, 28834584, 28554332, 28362824, 25585697, 21376300, 27034427, 21820098, 26410750, 25253658 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 |
C4225275 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 |
C4540481 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 |
C4748167 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 |
C4540484 |
|
| Borderline intellectual disability |
C0006009 |
|
| Mental Retardation, Autosomal Dominant 3 |
C2675488 |
|
| MENTAL RETARDATION, X-LINKED 15 |
C0796221 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 |
C4693389 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 |
C3554449 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 |
C3281202 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 |
C4225375 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 |
C3279839 |
| DYRK1A |
27241786, 26633545, 25167861, 25944381, 25920557, 26922654, 25641759, 29034068, 28053047, 23160955, 25533962, 23099646, 25707398 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 |
C4225343 |
|
| MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) |
C1846278 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 |
C3280285 |
|
| Mental Retardation, X-Linked 63 |
C1845672 |
|
| MENTAL RETARDATION, X-LINKED 41 |
C3887939 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 |
C4310774 |
|
| MENTAL RETARDATION, X-LINKED 94 (disorder) |
C2678051 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 |
C1970198 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 |
C3151411 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 |
C4479476 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 |
C4310771 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 |
C4225220 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 |
C4015283 |
|
| MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE |
C0796160 |
| SMS |
23696453, 23468611, 21647366, 29348635, 19206178, 26174906, 26761001, 26350204, 21318872, 19641749, 20950271, 22612257, 14508504, 23897707, 5823961, 25888122, 18550699, 18367445 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 |
C4310619 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 |
C3150700 |
|
| Mental Retardation, X-Linked 30 |
C0796237 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 |
C4225352 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 |
C4225354 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 |
C4015357 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 |
C4540321 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 |
C3281201 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 |
C4748195 |
|
| Mental Retardation, Autosomal Dominant 4 |
C2675487 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 |
C1970200 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 |
C3553248 |
|
| Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency |
C1848068 |
|
| Mental Retardation, X-Linked, With Panhypopituitarism |
C2678223 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 |
C4014528 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 |
C3810080 |
|
| Mental Retardation, X-Linked 58 |
C1846174 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 |
C4310740 |
|
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE |
C3275464 |
|
| Mental Retardation, X-Linked, Znf711-Related |
C2749020 |
|
| MENTAL RETARDATION, X-LINKED 89 |
C1839082 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 |
C1970197 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 |
C4225396 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 |
C4014435 |
|
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE |
C1845243 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 |
C3553247 |
|
| MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT |
C1845861 |
|
| MENTAL RETARDATION, X-LINKED 106 |
C4478379 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 |
C1855304 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY |
C3281044 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 |
C1970199 |
|
| Mental Retardation, Autosomal Dominant 5 |
C2675473 |
| SYNGAP1 |
25418537, 21076407, 26795593, 23708187, 26989088, 23141534, 25356970, 19196676, 28554332, 25167861, 21237447, 23161826 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 |
C3809753 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 |
C4540324 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 |
C3280265 |
|
| Mental Retardation, X-Linked 46 |
C1845526 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 |
C3151462 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 |
C4540424 |
|
| Mental Retardation, X-Linked, Syndromic, Turner Type |
C2678046 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 |
C4225156 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 |
C4539951 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 |
C3280284 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 |
C3808184 |
|
| Mental retardation X-linked, South African type |
C1846130 |
|
| Mental Retardation, X-Linked, Syndromic, Christianson Type |
C2678194 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 |
C4014414 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 |
C3809686 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 |
C4748219 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 |
C4015167 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 |
C4748003 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 |
C3810225 |
|
| MENTAL RETARDATION, X-LINKED 34 (disorder) |
C0796241 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 |
C3280127 |
|
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE |
C4538788 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 |
C4225296 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 |
C4310755 |
|
| MENTAL RETARDATION, X-LINKED 78 |
C1845181 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 |
C4539848 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 |
C4014386 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 |
C4015141 |
|
| MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES |
C3150923 |
| FOXP1 |
30385778, 30631761, 25853299, 29138280, 26010426, 28884888, 28735298, 25767709, 27657687, 26647308, 29330474, 26494785, 20950788, 24083349, 12687690, 24214399 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17 |
C3280153 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 |
C4540474 |
|
| Mental Retardation, Autosomal Recessive 2 |
C1843942 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 |
C1838023 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 |
C4310794 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 |
C3280538 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 |
C3810406 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 |
C4310641 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 |
C3554343 |
|
| Mental Retardation, Autosomal Dominant 1 |
C1969562 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 |
C4540478 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 |
C4539851 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 |
C4015444 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 |
C4748732 |
|
| MENTAL RETARDATION, X-LINKED 35 |
C0796242 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 |
C3554448 |
|
| Mental Retardation, Fra12a Type |
C1969893 |
|
| MENTAL RETARDATION, X-LINKED 107 |
C4692652 |
|
| Mental Retardation, X-Linked, Syndromic 14 |
C1970822 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 |
C4310673 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 |
C4310784 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 |
C4014864 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 |
C4310703 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 |
C4014343 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 |
C4225319 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 |
C4540470 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 |
C3809853 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 |
C4225168 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 |
C4310745 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 |
C2750791 |
|
| MENTAL RETARDATION, X-LINKED 95 |
C2678034 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 |
C4225388 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 |
C4748192 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 |
C3809039 |
|
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES |
C4693371 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 |
C4014745 |
|
| MENTAL RETARDATION, X-LINKED 91 (disorder) |
C1845142 |
|
| MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) |
C0796244 |
| ARX |
23246292, 24781210, 26029707, 12379852, 17664401, 11889467, 17490853, 21204215, 23583054, 19606478, 19507262, 15726411, 11971879, 15533998, 22922607, 20506206, 17331656, 16235064, 12874418 |
|
| MENTAL RETARDATION, X-LINKED 93 (disorder) |
C1970841 |
|
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 |
C4225395 |
|
| Mental Retardation, X-Linked 92 |
C1845144 |
|
| Intellectual disability, Birk-Barel type |
166108 |
|
| DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
268261 |
|
| Intellectual disability syndrome due to a DYRK1A point mutation |
464311 |
|
| SIN3A-related intellectual disability syndrome due to a point mutation |
500166 |
|
| TBCK-related intellectual disability syndrome |
488632 |
|
|
|
