ONTOLOGY REPORT - ANNOTATIONS


Term:Growth Disorders
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Accession:DOID:9006257 term browser browse the term
Definition:Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.
Synonyms:exact_synonym: Growth Disorder;   Stunted Growth;   Stunting;   Stuntings
 primary_id: MESH:D006130;   RDO:0000250
For additional species annotation, visit the Alliance of Genome Resources.


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Growth Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ache acetylcholinesterase JBrowse link 12 22,472,358 22,477,052 RGD:11554173
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:11554173
G Aff4 AF4/FMR2 family, member 4 JBrowse link 10 38,692,167 38,773,021 RGD:11554173
G Ahr aryl hydrocarbon receptor JBrowse link 6 54,963,990 55,001,806 RGD:11554173
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:11554173
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:11554173
G Avpr2 arginine vasopressin receptor 2 JBrowse link X 156,889,006 156,892,707 RGD:11554173
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 3 110,367,949 110,420,471 RGD:11554173
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:11554173
G Cntn4 contactin 4 JBrowse link 4 137,785,166 138,787,527 RGD:11554173
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 JBrowse link 8 62,451,360 62,458,244 RGD:11554173
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:11554173
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:11554173
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:11352731
RGD:11554173
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Idh2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial JBrowse link 1 141,874,354 141,893,674 RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:1624297
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:11554173
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:11554173
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:11554173
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:10403065
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:11554173
G Lpar1 lysophosphatidic acid receptor 1 JBrowse link 5 75,557,038 75,678,067 RGD:11554173
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:11554173
G Nppc natriuretic peptide C JBrowse link 9 93,731,436 93,735,636 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:11554173
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:11554173
G Rai1 retinoic acid induced 1 JBrowse link 10 46,511,271 46,571,591 RGD:11554173
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:11554173
G Secisbp2 SECIS binding protein 2 JBrowse link 17 13,555,348 13,586,595 RGD:11554173
G Sh3pxd2b SH3 and PX domains 2B JBrowse link 10 17,209,152 17,296,449 RGD:11554173
G Tbx15 T-box 15 JBrowse link 2 201,289,042 201,390,752 RGD:11554173
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:11554173
Acid-Labile Subunit Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:7240710
RGD:8554872
acrocapitofemoral dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:1600033
RGD:8554872
RGD:7240710
Al Kaissi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk10 cyclin-dependent kinase 10 JBrowse link 19 56,024,903 56,032,610 RGD:8554872
RGD:7240710
Ayme-Gripp Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
RGD:7240710
Bainbridge-Ropers Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asxl3 ASXL transcriptional regulator 3 JBrowse link 18 13,322,148 13,496,230 RGD:7240710
RGD:8554872
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phf6 PHD finger protein 6 JBrowse link X 158,698,353 158,739,855 RGD:7240710
RGD:8554872
Bowen-Conradi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emg1 EMG1 N1-specific pseudouridine methyltransferase JBrowse link 4 157,222,366 157,230,647 RGD:7240710
RGD:8554872
brachydactyly type E2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:7240710
RGD:8554872
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
RGD:11554173
CODAS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lonp1 lon peptidase 1, mitochondrial JBrowse link 9 10,428,853 10,441,180 RGD:8554872
RGD:7240710
COUSIN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx15 T-box 15 JBrowse link 2 201,289,042 201,390,752 RGD:11554173
RGD:7240710
RGD:8554872
DNA ligase IV deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lig4 DNA ligase 4 JBrowse link 16 85,331,771 85,339,496 RGD:7240710
RGD:8554872
RGD:13204717
RGD:13204707
RGD:8694074
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl2 grainyhead-like transcription factor 2 JBrowse link 7 76,058,623 76,197,360 RGD:8554872
RGD:7240710
EVEN-PLUS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspa9 heat shock protein family A (Hsp70) member 9 JBrowse link 18 27,731,072 27,749,235 RGD:8554872
RGD:7240710
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pole DNA polymerase epsilon, catalytic subunit JBrowse link 12 52,403,533 52,452,075 RGD:8554872
RGD:7240710
Familial Osteochondritis Dissecans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:7240710
Fetal Akinesia Deformation Sequence 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dok7 docking protein 7 JBrowse link 14 80,925,409 80,963,454 RGD:8554872
RGD:11554173
G Musk muscle associated receptor tyrosine kinase JBrowse link 5 75,392,790 75,498,694 RGD:8554872
RGD:7240710
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:8554872
RGD:11554173
Fetal Akinesia Deformation Sequence 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:7240710
RGD:8554872
Fetal Akinesia Deformation Sequence 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dok7 docking protein 7 JBrowse link 14 80,925,409 80,963,454 RGD:7240710
RGD:8554872
Fetal Akinesia Deformation Sequence 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup88 nucleoporin 88 JBrowse link 10 57,581,828 57,606,171 RGD:7240710
Fetal Growth Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1a ATP binding cassette subfamily B member 1A JBrowse link 4 22,339,829 22,517,642 RGD:2306659
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:12879387
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:11554173
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8695947
G Adipor1 adiponectin receptor 1 JBrowse link 13 51,240,470 51,260,233 RGD:8695947
G Adipor2 adiponectin receptor 2 JBrowse link 4 151,412,135 151,480,108 RGD:8695947
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11554173
RGD:13432363
RGD:11538508
G Agtr1a angiotensin II receptor, type 1a JBrowse link 17 35,907,102 35,958,136 RGD:5129179
G Agtr2 angiotensin II receptor, type 2 JBrowse link X 119,389,480 119,393,845 RGD:5129179
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:13434923
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:4891147
G Apoh apolipoprotein H JBrowse link 10 96,640,013 96,653,939 RGD:10054118
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:13792602
G Atp5f1a ATP synthase F1 subunit alpha JBrowse link 18 74,156,553 74,164,490 RGD:13703049
G Atp5f1b ATP synthase F1 subunit beta JBrowse link 7 2,504,708 2,511,748 RGD:13782135
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:10054114
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:10054114
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068402
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link 6 26,657,507 26,680,459 RGD:2303532
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:10054114
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8661261
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:11554173
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:2303532
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:11554173
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 JBrowse link 8 62,798,317 62,809,848 RGD:4832477
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 RGD:4891147
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 JBrowse link 7 116,248,759 116,255,205 RGD:4891147
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:2306659
RGD:11576317
RGD:11576311
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:11554173
G Dlk1 delta like non-canonical Notch ligand 1 JBrowse link 6 133,576,513 133,583,751 RGD:11554173
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:9588242
RGD:9590296
RGD:9588619
G Dnmt3b DNA methyltransferase 3 beta JBrowse link 3 149,131,541 149,170,061 RGD:9590296
G Dusp1 dual specificity phosphatase 1 JBrowse link 10 16,970,642 16,973,425 RGD:7771581
G Dusp5 dual specificity phosphatase 5 JBrowse link 1 274,245,184 274,258,595 RGD:2317872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Elk1 ETS transcription factor ELK1 JBrowse link X 1,287,875 1,304,822 RGD:7488901
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903973
RGD:12904025
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:12903972
RGD:12904025
G G6pc glucose-6-phosphatase, catalytic subunit JBrowse link 10 89,286,009 89,296,213 RGD:2315963
G Ghrl ghrelin and obestatin prepropeptide JBrowse link 4 145,674,157 145,678,066 RGD:12904883
G Ghsr growth hormone secretagogue receptor JBrowse link 2 113,065,953 113,071,265 RGD:12904883
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:11554173
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 JBrowse link 10 42,441,723 42,760,200 RGD:4107070
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:4107070
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13210763
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450795
RGD:12792219
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450795
RGD:12792219
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha JBrowse link 6 27,589,840 27,628,921 RGD:1599884
G Hdac1 histone deacetylase 1 JBrowse link 5 147,716,664 147,743,723 RGD:2311214
RGD:9590296
RGD:9588242
G Hdac2 histone deacetylase 2 JBrowse link 20 43,084,870 43,108,198 RGD:9590296
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
G Hnf4a hepatocyte nuclear factor 4, alpha JBrowse link 3 159,902,441 159,965,003 RGD:12904699
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 JBrowse link 19 37,476,083 37,481,326 RGD:2308941
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:2306715
RGD:12910460
RGD:12904720
RGD:1600258
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:1624299
RGD:12904724
RGD:12904720
RGD:11554173
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:11554173
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:10402581
RGD:12743599
RGD:12743590
RGD:12743585
RGD:12743583
RGD:1600258
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:2311066
G Irs1 insulin receptor substrate 1 JBrowse link 9 88,033,668 88,086,488 RGD:8661261
G Irs2 insulin receptor substrate 2 JBrowse link 16 83,824,515 83,848,569 RGD:7257699
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:5128507
G Mdm2 MDM2 proto-oncogene JBrowse link 7 60,719,060 60,743,618 RGD:2317395
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:9588242
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:13204803
RGD:11554173
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12910955
RGD:12914148
RGD:12910958
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:7349369
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link 1 214,663,929 214,693,197 RGD:7349369
G Muc4 mucin 4, cell surface associated JBrowse link 11 71,242,973 71,285,217 RGD:7349369
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:10412716
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:5132592
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:5132592
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:5132592
RGD:13792602
RGD:11554173
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:2308941
RGD:4892120
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 RGD:11554173
G Otc ornithine carbamoyltransferase JBrowse link X 13,524,804 13,601,074 RGD:4144077
G Pck1 phosphoenolpyruvate carboxykinase 1 JBrowse link 3 171,213,936 171,219,885 RGD:10448276
G Pdgfa platelet derived growth factor subunit A JBrowse link 12 17,734,141 17,756,186 RGD:2311066
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:2311066
G Pdx1 pancreatic and duodenal homeobox 1 JBrowse link 12 9,496,044 9,501,211 RGD:2311220
RGD:2311214
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:8552971
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:10059649
G Ptger3 prostaglandin E receptor 3 JBrowse link 2 263,895,093 263,979,682 RGD:10043194
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:2308941
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:12743586
G Rbp1 retinol binding protein 1 JBrowse link 8 106,449,321 106,470,842 RGD:11554173
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:11554173
G Samd9 sterile alpha motif domain containing 9 JBrowse link 4 28,304,967 28,324,637 RGD:11554173
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208595
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:2311214
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:730192
RGD:12879480
G Slc2a2 solute carrier family 2 member 2 JBrowse link 2 114,413,427 114,445,418 RGD:12879480
G Slc2a3 solute carrier family 2 member 3 JBrowse link 4 155,549,991 155,626,018 RGD:730192
G Slc38a2 solute carrier family 38, member 2 JBrowse link 7 138,088,654 138,100,869 RGD:9999212
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Srebf1 sterol regulatory element binding transcription factor 1 JBrowse link 10 46,570,996 46,593,021 RGD:2308805
G Srebf1_v2 sterol regulatory element binding factor 1, variant 2 RGD:2308805
G Star steroidogenic acute regulatory protein JBrowse link 16 71,036,204 71,040,847 RGD:4832477
G Tff3 trefoil factor 3 JBrowse link 20 9,850,800 9,855,481 RGD:7349369
G Unc13a unc-13 homolog A JBrowse link 16 20,056,398 20,103,951 RGD:5686390
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:11058690
Filippi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ckap2l cytoskeleton associated protein 2-like JBrowse link 3 121,796,221 121,822,352 RGD:8554872
RGD:7240710
Finnish Lethal Neonatal Metabolic Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
Floating-Harbor Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srcap Snf2-related CREBBP activator protein JBrowse link 1 198,957,764 199,007,576 RGD:7240710
RGD:8554872
Geleophysic Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
Geleophysic Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:7240710
RGD:8554872
Geleophysic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
RGD:8554872
Geleophysic Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:8554872
RGD:7240710
GEMSS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
RGD:7240710
Growth Deficiency and Mental Retardation with Facial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2a lysine methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:7240710
RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:12880042
RGD:11554173
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Antxr1 ANTXR cell adhesion molecule 1 JBrowse link 4 118,946,267 119,131,202 RGD:9684854
RGD:8554872
RGD:7240710
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars isoleucyl-tRNA synthetase JBrowse link 17 15,356,016 15,402,680 RGD:8554872
RGD:7240710
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 9A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:7240710
RGD:8554872
RGD:11056004
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1b DNA cross-link repair 1B JBrowse link 2 206,285,085 206,293,599 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:7240710
RGD:8554872
RGD:11554173
Idiopathic Short Stature, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC691272 similar to reproductive homeobox on X chromosome, 11 JBrowse link X 124,045,727 124,052,708 RGD:7240710
RGD:8554872
IMAGe syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1c cyclin-dependent kinase inhibitor 1C JBrowse link 1 216,661,067 216,663,791 RGD:7240710
RGD:8554872
IMAGEI Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pole DNA polymerase epsilon, catalytic subunit JBrowse link 12 52,403,533 52,452,075 RGD:8554872
RGD:7240710
Insulin-Like Growth Factor I Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:7240710
RGD:8554872
Insulin-Like Growth Factor I, Resistance To term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:7240710
RGD:8554872
Johanson-Blizzard syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 JBrowse link 3 112,800,557 112,910,038 RGD:7240710
RGD:8554872
Langer Mesomelic Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC691272 similar to reproductive homeobox on X chromosome, 11 JBrowse link X 124,045,727 124,052,708 RGD:7240710
RGD:8554872
Larsen Syndrome, Recessive Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3gat3 beta-1,3-glucuronyltransferase 3 JBrowse link 1 225,120,061 225,126,579 RGD:7240710
RGD:8554872
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:8554872
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:8554872
Leri-Weill dyschondrosteosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC691272 similar to reproductive homeobox on X chromosome, 11 JBrowse link X 124,045,727 124,052,708 RGD:7240710
RGD:8554872
G Shox2 short stature homeobox 2 JBrowse link 2 164,118,175 164,126,783 RGD:13592920
Loucks-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp5 bone morphogenetic protein 5 JBrowse link 8 82,669,466 82,950,273 RGD:13592920
G Cdc45 cell division cycle 45 JBrowse link 11 86,328,785 86,354,099 RGD:11554173
G Cdc6 cell division cycle 6 JBrowse link 10 86,819,477 86,833,301 RGD:11554173
RGD:8554872
G Cdt1 chromatin licensing and DNA replication factor 1 JBrowse link 19 55,381,565 55,386,511 RGD:11554173
G Gmnn geminin, DNA replication inhibitor JBrowse link 17 42,302,523 42,310,783 RGD:8554872
RGD:11554173
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 RGD:8554872
RGD:11554173
G Orc4 origin recognition complex, subunit 4 JBrowse link 3 33,034,913 33,075,833 RGD:11554173
G Orc6 origin recognition complex, subunit 6 JBrowse link 19 27,457,541 27,464,804 RGD:11554173
RGD:8554872
G Vps35 VPS35 retromer complex component JBrowse link 19 27,464,937 27,500,636 RGD:8554872
Meier-Gorlin syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orc4 origin recognition complex, subunit 4 JBrowse link 3 33,034,913 33,075,833 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orc6 origin recognition complex, subunit 6 JBrowse link 19 27,457,541 27,464,804 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdt1 chromatin licensing and DNA replication factor 1 JBrowse link 19 55,381,565 55,386,511 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc6 cell division cycle 6 JBrowse link 10 86,819,477 86,833,301 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmnn geminin, DNA replication inhibitor JBrowse link 17 42,302,523 42,310,783 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc45 cell division cycle 45 JBrowse link 11 86,328,785 86,354,099 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm5 minichromosome maintenance complex component 5 JBrowse link 19 14,523,482 14,561,281 RGD:8554872
RGD:7240710
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:7240710
RGD:8554872
RGD:13442490
RGD:11040909
RGD:1599406
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:8554872
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clasp1 cytoplasmic linker associated protein 1 JBrowse link 13 34,365,038 34,584,651 RGD:8554872
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:7240710
RGD:8554872
RGD:11537403
RGD:11537402
RGD:11537401
RGD:11537400
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:7240710
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
RGD:7240710
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trmt10a tRNA methyltransferase 10A JBrowse link 2 243,422,811 243,437,533 RGD:7240710
RGD:8554872
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp1r15b protein phosphatase 1, regulatory subunit 15B JBrowse link 13 49,933,155 49,940,961 RGD:8554872
RGD:7240710
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rttn rotatin JBrowse link 18 86,071,884 86,247,486 RGD:7240710
RGD:8554872
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla8 patatin-like phospholipase domain containing 8 JBrowse link 6 64,224,870 64,288,465 RGD:8554872
RGD:7240710
Neonatal Zinc Deficiency due to Low Breast Milk Zinc term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc30a2 solute carrier family 30 member 2 JBrowse link 5 152,559,577 152,571,800 RGD:7240710
RGD:11554173
RGD:8554872
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
RGD:8554872
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:11554173
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ufc1 ubiquitin-fold modifier conjugating enzyme 1 JBrowse link 13 89,661,763 89,668,513 RGD:8554872
RGD:7240710
Nijmegen Breakage Syndrome-Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad50 RAD50 double strand break repair protein JBrowse link 10 39,002,130 39,054,042 RGD:7240710
RGD:8554872
Ogden syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:7240710
RGD:8554872
Omodysplasia Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc6 glypican 6 JBrowse link 15 102,164,091 103,174,721 RGD:7240710
RGD:11554173
RGD:8554872
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptf1a pancreas associated transcription factor 1a JBrowse link 17 86,199,623 86,201,477 RGD:7240710
RGD:8554872
RGD:11554173
Peters plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3glct beta 3-glucosyltransferase JBrowse link 12 6,403,118 6,476,010 RGD:7240710
RGD:8554872
RGD:11554173
Progeroid Syndrome, Congenital, Petty Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a24 solute carrier family 25 member 24 JBrowse link 2 211,930,371 211,967,511 RGD:8554872
RGD:7240710
PSPH deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psph phosphoserine phosphatase JBrowse link 12 30,514,128 30,526,551 RGD:7240710
RGD:8554872
Rajab Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Farsb phenylalanyl-tRNA synthetase subunit beta JBrowse link 9 84,324,456 84,383,674 RGD:8554872
RGD:7240710
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:8554872
G Rdh11 retinol dehydrogenase 11 JBrowse link 6 102,356,498 102,372,618 RGD:7240710
RGD:8554872
Ruijs-Aalfs Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sprtn SprT-like N-terminal domain JBrowse link 19 57,649,901 57,657,158 RGD:8554872
RGD:7240710
Seckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:7240710
RGD:11541118
RGD:11541114
RGD:8554872
G Rnf17 ring finger protein 17 JBrowse link 15 36,609,348 36,744,750 RGD:8554872
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:7240710
RGD:8554872
Severe Growth Restriction with Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:7240710
RGD:8554872
G Ins1 insulin 1 JBrowse link 1 272,799,784 272,800,351 RGD:8554872
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc10a7 solute carrier family 10, member 7 JBrowse link 19 32,857,984 33,081,359 RGD:7240710
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poc1a POC1 centriolar protein A JBrowse link 8 114,982,764 115,050,844 RGD:7240710
RGD:8554872
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nbas neuroblastoma amplified sequence JBrowse link 6 38,474,773 38,777,146 RGD:7240710
RGD:8554872
SHORT Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 31,742,326 31,826,882 RGD:7240710
RGD:8554872
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rspry1 ring finger and SPRY domain containing 1 JBrowse link 19 10,770,572 10,826,895 RGD:8554872
RGD:7240710
spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 JBrowse link 1 251,145,264 251,230,716 RGD:7240710
RGD:8554872
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:8554872
RGD:7240710
syndromic X-linked intellectual disability Cabezas type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:7240710
RGD:8554872
TATTON-BROWN-RAHMAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:7240710
RGD:8554872
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
RGD:7240710
Trichohepatoenteric Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nelfe negative elongation factor complex member E JBrowse link 20 4,530,328 4,536,085 RGD:8554872
G Skiv2l Ski2 like RNA helicase JBrowse link 20 4,519,457 4,530,177 RGD:11554173
RGD:8554872
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link 2 2,891,265 3,037,602 RGD:11554173
RGD:8554872
Trichohepatoenteric Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:8554872
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link 2 2,891,265 3,037,602 RGD:7240710
RGD:8554872
Trichohepatoenteric Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Skiv2l Ski2 like RNA helicase JBrowse link 20 4,519,457 4,530,177 RGD:7240710
RGD:8554872
Turnpenny-Fry Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcgf2 polycomb group ring finger 2 JBrowse link 10 85,631,829 85,642,591 RGD:7240710
RGD:8554872
Verheij Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Puf60 poly-U binding splicing factor 60 JBrowse link 7 117,129,237 117,140,234 RGD:7240710
RGD:8554872
Winchester Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp14 matrix metallopeptidase 14 JBrowse link 15 33,074,441 33,083,666 RGD:8554872
RGD:7240710

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  disease 14920
    Pathological Conditions, Signs and Symptoms 7743
      Pathologic Processes 4924
        Growth Disorders 244
          3p- syndrome 0
          Acid-Labile Subunit Deficiency 1
          Acrocephalopolydactylous Dysplasia 0
          Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
          Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 0
          Al Gazali Khidr Prem Chandran Syndrome 0
          Al Kaissi Syndrome 1
          Aphalangia Syndactyly Microcephaly 0
          Auriculoosteodysplasia 0
          Ayme-Gripp Syndrome 1
          Bainbridge-Ropers Syndrome 1
          Bellini Chiumello Rimoldi Syndrome 0
          Berk-Tabatznik Syndrome 0
          Bhaskar Jagannathan Syndrome 0
          Blepharophimosis with Ptosis, Syndactyly, and Short Stature 0
          Borjeson-Forssman-Lehmann syndrome 1
          Boudhina Yedes Khiari syndrome 0
          Brooks-Wisniewski-Brown syndrome 0
          CODAS Syndrome 1
          COUSIN SYNDROME 1
          Cantalamessa Baldini Ambrosi Syndrome 0
          Cantu Sanchez-Corona Fragoso Syndrome 0
          Cataracts, Ataxia, Short Stature, and Mental Retardation 0
          Chitty Hall Baraitser Syndrome 0
          Chromosome 18 Pericentric Inversion 0
          Clark-Baraitser Syndrome 0
          Coffin Syndrome 1 0
          Cote Katsantoni Syndrome 0
          Coxoauricular Syndrome 0
          Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
          Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 0
          Crumpled Helices and Small Mouth 0
          Curatolo Cilio Pessagno Syndrome 0
          DNA ligase IV deficiency 1
          Daish Hardman Lamont Syndrome 0
          Dermoids of Cornea 0
          Devriendt syndrome 0
          Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 0
          Dubowitz syndrome 0
          Dyschondrosteosis and Nephritis 0
          ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
          EVEN-PLUS SYNDROME 1
          Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 0
          Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
          Fallot Complex with Severe Mental and Growth Retardation 0
          Familial Osteochondritis Dissecans 1
          Fetal Growth Retardation + 125
          Filippi Syndrome 1
          Floating-Harbor Syndrome 1
          Forsythe-Wakeling Syndrome 0
          Frias Syndrome 0
          GEMSS Syndrome 1
          GOMBO Syndrome 0
          GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 1
          Game Friedman Paradice Syndrome 0
          Gay Feinmesser Cohen Syndrome 0
          Geleophysic Dysplasia + 3
          Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 0
          Gomez Lopez Hernandez Syndrome 0
          Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 0
          Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
          Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
          Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
          Growth Mental Deficiency Syndrome of Myhre 1
          Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 1
          Growth Retardation, Small and Puffy Hands and Feet, and Eczema 0
          Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
          Hairy Elbows 0
          Heme Oxygenase 1 Deficiency 1
          Hersh Podruch Weisskopk Syndrome 0
          Hooft Disease 0
          Hunter-McAlpine Syndrome 0
          Hutterite Cerebroosteonephrodysplasia Syndrome 0
          Idiopathic Short Stature, X-Linked 1
          Insulin-Like Growth Factor I Deficiency 20
          Insulin-Like Growth Factor I, Resistance To 1
          Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 0
          Johanson-Blizzard syndrome 1
          Jorgenson Lenz Syndrome 0
          Kozlowski Rafinski Klicharska Syndrome 0
          Kuster Majewski Hammerstein Syndrome 0
          Ladda Zonana Ramer syndrome 0
          Langer Mesomelic Dysplasia 1
          Larsen Syndrome, Recessive Type 4
          Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy 1
          Leri-Weill dyschondrosteosis 2
          Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
          Loucks-Innes Syndrome 1
          Lowry Maclean syndrome 0
          Lowry Wood Syndrome 0
          MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 1
          MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 1
          MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 1
          MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 1
          Macrosomia Adiposa Congenita 0
          Madelung Deformity 0
          Malocclusion and Short Stature 0
          Megarbane Syndrome 0
          Meier-Gorlin syndrome + 10
          Mental Retardation Mietens Weber Type 0
          Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 0
          Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 0
          Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 1
          Mental and Growth Retardation with Amblyopia 0
          Microcephaly Cervical Spine Fusion Anomalies 0
          Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 1
          Microdontia Hypodontia Short Stature 0
          Milner Khallouf Gibson Syndrome 0
          Mitochondrial Myopathy with Lactic Acidosis 1
          Mollica Pavone Antener Syndrome 0
          Morillo-Cucci Passarge Syndrome 0
          Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
          Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
          NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 1
          Nathalie Syndrome 0
          Neonatal Zinc Deficiency due to Low Breast Milk Zinc 1
          Neurofaciodigitorenal Syndrome 0
          Nijmegen Breakage Syndrome-Like Disorder 1
          Ogden syndrome 1
          Omodysplasia Type 1 1
          Onat Syndrome 0
          Osteolysis Syndrome Recessive 0
          PSPH deficiency 1
          Partington Anderson Syndrome 0
          Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 0
          Peters plus syndrome 1
          Petty Laxova Wiedemann Syndrome 0
          Pfeiffer Kapferer Syndrome 0
          Pfeiffer Mayer Syndrome 0
          Pfeiffer Palm Teller Syndrome 0
          Pili Torti Developmental Delay Neurological Abnormalities 0
          Pilotto Syndrome 0
          Polydysspondyly 0
          Premature Aging, Okamoto Type 0
          Progeria Short Stature Pigmented Nevi 0
          Progeroid Syndrome, Congenital, Petty Type 1
          Qazi Markouizos syndrome 0
          Radioulnar Synostosis Retinal Pigment Abnormalities 0
          Rajab Syndrome 1
          Ramon Syndrome 0
          Reardon Wilson Cavanagh Syndrome 0
          Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
          Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 0
          Rodrigues Blindness 0
          Rommen Mueller Sybert Syndrome 0
          Rowley-Rosenberg Syndrome 0
          Ruijs-Aalfs Syndrome 1
          SHORT Syndrome 1
          Say Meyer Syndrome 0
          Say Syndrome 0
          Schaap Taylor Baraitser Syndrome 0
          Schimke X-Linked Mental Retardation Syndrome 0
          Seemanova Lesny Syndrome 0
          Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 1
          Severe Growth Restriction with Distinctive Facies 2
          Short Stature Syndrome, Brussels Type 0
          Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
          Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
          Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
          Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
          Slavotinek Pike Mills Hurst Syndrome 0
          Sonoda Syndrome 0
          Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
          Spondylometaphyseal Dysplasia, 'Corner Fracture' Type 1
          Stern Lubinsky Durrie Syndrome 0
          Synostosis of Talus and Calcaneus with Short Stature 0
          TATTON-BROWN-RAHMAN SYNDROME 1
          THAUVIN-ROBINET-FAIVRE SYNDROME 1
          Theodor Hertz Goodman Syndrome 0
          Thrombocytopenia Robin Sequence 0
          Thumb Agenesis, Short Stature, and Immunodeficiency 0
          Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
          Tonoki Syndrome 0
          Tsukahara Syndrome 0
          Turnpenny-Fry Syndrome 1
          Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
          Verheij Syndrome 1
          Vertebral Body Fusion Overgrowth 0
          Viljoen Kallis Voges Syndrome 0
          Volcke Soekarman Syndrome 0
          Wellesley Carmen French Syndrome 0
          Wiedemann Grosse Dibbern Syndrome 0
          Winchester Syndrome 1
          Wittwer Syndrome 0
          Young Hughes Syndrome 0
          Zerres Rietschel Majewski Syndrome 0
          acrocapitofemoral dysplasia 1
          brachydactyly type E2 1
          chromosome 15q26-qter deletion syndrome 0
          chromosome 17q11.2 deletion syndrome, 1.4Mb 1
          hereditary spastic paraplegia 9A 1
          hypoparathyroidism-retardation-dysmorphism syndrome 2
          spondyloepimetaphyseal dysplasia, Pakistani type 1
          syndromic X-linked intellectual disability Cabezas type 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.