ONTOLOGY REPORT - ANNOTATIONS


Term:Dwarfism
go back to main search page
Accession:DOID:9007661 term browser browse the term
Definition:A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Synonyms:exact_synonym: Nanism;   short stature
 narrow_synonym: SD2;   Skeletal dysplasia 2
 primary_id: MESH:D004392
 alt_id: OMIA:001772;   RDO:0000307
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:1300269
RGD:734826
RGD:11570533
RGD:11570531
RGD:11570526
RGD:11061419
G Adgrb3 adhesion G protein-coupled receptor B3 JBrowse link 9 31,280,623 32,022,535 RGD:8554872
G Aff2 AF4/FMR2 family, member 2 JBrowse link X 153,539,951 154,051,022 RGD:8554872
G Alg12 ALG12, alpha-1,6-mannosyltransferase JBrowse link 7 129,798,663 129,812,677 RGD:8554872
G Ammecr1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 JBrowse link X 114,129,829 114,233,013 RGD:8554872
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 JBrowse link 10 10,808,780 10,829,507 RGD:8554872
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:1599404
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:8554872
G Brd4 bromodomain containing 4 JBrowse link 7 14,222,101 14,303,055 RGD:8554872
G Ccdc120 coiled-coil domain containing 120 JBrowse link X 15,610,230 15,616,727 RGD:8554872
G Ccn2 cellular communication network factor 2 JBrowse link 1 21,851,657 21,854,773 RGD:734846
G Cep76 centrosomal protein 76 JBrowse link 18 63,364,990 63,394,766 RGD:8554872
G Chd1l chromodomain helicase DNA binding protein 1-like JBrowse link 2 199,714,044 199,792,270 RGD:8554872
G Clgn calmegin JBrowse link 19 24,545,257 24,578,527 RGD:8554872
G Clic4 chloride intracellular channel 4 JBrowse link 5 153,568,937 153,625,669 RGD:8554872
G Clip1 CAP-GLY domain containing linker protein 1 JBrowse link 12 38,345,203 38,452,650 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:11570531
RGD:8554872
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Cpz carboxypeptidase Z JBrowse link 14 80,402,946 80,426,203 RGD:8554872
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:8554872
G Dennd4b DENN domain containing 4B JBrowse link 2 189,626,922 189,642,732 RGD:8554872
G Dhx30 DExH-box helicase 30 JBrowse link 8 118,160,315 118,194,674 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dnah17 dynein, axonemal, heavy chain 17 JBrowse link 10 107,028,115 107,161,288 RGD:8554872
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:11554173
G Donson downstream neighbor of SON JBrowse link 11 31,834,608 31,847,751 RGD:11554173
G Edem3 ER degradation enhancing alpha-mannosidase like protein 3 JBrowse link 13 69,135,095 69,197,708 RGD:8554872
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Fbrs fibrosin JBrowse link 1 198,925,265 198,938,939 RGD:8554872
G Fgf18 fibroblast growth factor 18 JBrowse link 10 18,047,109 18,082,290 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:11568033
RGD:8554872
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
G G6pc glucose-6-phosphatase, catalytic subunit JBrowse link 10 89,286,009 89,296,213 RGD:8554872
G Gabre gamma-aminobutyric acid type A receptor epsilon subunit JBrowse link X 152,220,180 152,237,347 RGD:8554872
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:12904666
RGD:12905039
G Gh1sdr RGD:1578506
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:11565837
RGD:11566044
RGD:11566042
G Ghrl ghrelin and obestatin prepropeptide JBrowse link 4 145,674,157 145,678,066 RGD:12904881
G Ghsr growth hormone secretagogue receptor JBrowse link 2 113,065,953 113,071,265 RGD:12904884
RGD:12910126
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:8554872
G Greb1l GREB1 like retinoic acid receptor coactivator JBrowse link 18 1,537,315 1,784,260 RGD:8554872
G Hapln1 hyaluronan and proteoglycan link protein 1 JBrowse link 2 18,354,542 18,419,077 RGD:734826
RGD:11554173
G Hkdc1 hexokinase domain containing 1 JBrowse link 20 32,018,027 32,054,494 RGD:8554872
G Hook3 hook microtubule-tethering protein 3 JBrowse link 16 70,710,347 70,818,789 RGD:8554872
G Hypm huntingtin interacting protein M JBrowse link X 13,989,401 13,989,955 RGD:8554872
G Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548823
RGD:12904931
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743603
G Itih6 inter-alpha-trypsin inhibitor heavy chain family, member 6 RGD:8554872
G Kcnd1 potassium voltage-gated channel subfamily D member 1 JBrowse link X 15,506,724 15,520,712 RGD:8554872
G Lama5 laminin subunit alpha 5 JBrowse link 3 175,553,042 175,601,112 RGD:8554872
G Lztr1 leucine-zipper-like transcription regulator 1 JBrowse link 11 87,381,638 87,397,849 RGD:8554872
G Macf1 microtubule-actin crosslinking factor 1 JBrowse link 5 141,039,455 141,363,524 RGD:8554872
G Med24 mediator complex subunit 24 JBrowse link 10 86,620,166 86,658,014 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mta3 metastasis associated 1 family, member 3 JBrowse link 6 6,904,449 7,036,929 RGD:8554872
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
G Myh7b myosin heavy chain 7B JBrowse link 3 151,105,038 151,150,621 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:8554872
G N4bp2l2 NEDD4 binding protein 2-like 2 JBrowse link 12 627,128 650,604 RGD:8554872
G Nrxn3 neurexin 3 JBrowse link 6 112,133,204 114,069,589 RGD:8554872
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF JBrowse link 10 45,353,185 45,483,570 RGD:8554872
G Obsl1 obscurin-like 1 JBrowse link 9 82,673,871 82,699,577 RGD:8554872
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 RGD:11554173
G Osbp oxysterol binding protein JBrowse link 1 228,395,237 228,425,366 RGD:8554872
G Pcsk1 proprotein convertase subtilisin/kexin type 1 JBrowse link 2 91,450,162 91,497,091 RGD:737721
G Pdzrn3 PDZ domain containing RING finger 3 JBrowse link 4 133,717,139 133,951,282 RGD:8554872
G Phf20 PHD finger protein 20 JBrowse link 3 152,273,269 152,379,742 RGD:8554872
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha JBrowse link 1 185,210,922 185,326,314 RGD:8554872
G Plk4 polo-like kinase 4 JBrowse link 2 127,686,911 127,705,518 RGD:11554173
G Plxna3 plexin A3 JBrowse link X 156,363,400 156,379,433 RGD:8554872
G Pogz pogo transposable element derived with ZNF domain JBrowse link 2 195,995,322 196,041,500 RGD:8554872
G Polr2e RNA polymerase II subunit E JBrowse link 7 12,532,785 12,536,797 RGD:8554872
G Polr3gl RNA polymerase III subunit G like JBrowse link 2 198,698,044 198,719,609 RGD:8554872
G Psmd11 proteasome 26S subunit, non-ATPase 11 JBrowse link 10 67,810,655 67,857,562 RGD:8554872
G Psmg2 proteasome assembly chaperone 2 JBrowse link 18 63,394,991 63,420,491 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Ptpru protein tyrosine phosphatase, receptor type, U JBrowse link 5 149,922,374 149,996,352 RGD:8554872
G Pygb glycogen phosphorylase B JBrowse link 3 146,581,063 146,629,504 RGD:8554872
G Rasa3 RAS p21 protein activator 3 JBrowse link 16 81,320,090 81,434,239 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:8554872
G Rnf31 ring finger protein 31 JBrowse link 15 34,270,037 34,282,385 RGD:8554872
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase JBrowse link 20 33,100,190 33,323,544 RGD:8554872
G Runx1t1 RUNX1 translocation partner 1 JBrowse link 5 27,284,921 27,440,802 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Sbds SBDS, ribosome maturation factor JBrowse link 12 29,921,443 29,930,602 RGD:8554872
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:11554173
G Slc38a3 solute carrier family 38, member 3 JBrowse link 8 116,406,258 116,423,752 RGD:8554872
G Slc7a8 solute carrier family 7 member 8 JBrowse link 15 33,369,245 33,428,942 RGD:8554872
G Smarca5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 JBrowse link 19 30,936,703 30,969,454 RGD:8554872
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 JBrowse link 9 79,943,775 79,990,230 RGD:8554872
G Srpx sushi-repeat-containing protein, X-linked JBrowse link X 14,146,618 14,220,756 RGD:8554872
G Stat1 signal transducer and activator of transcription 1 JBrowse link 9 54,287,540 54,327,958 RGD:8554872
G Sytl5 synaptotagmin-like 5 JBrowse link X 13,857,669 14,109,592 RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:1599303
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
G Tpo thyroid peroxidase JBrowse link 6 49,020,918 49,089,855 RGD:8554872
G Traip TRAF-interacting protein JBrowse link 8 116,730,170 116,750,528 RGD:11554173
G Trim37 tripartite motif-containing 37 JBrowse link 10 74,436,165 74,568,636 RGD:1599667
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:8554872
G Tstd3 thiosulfate sulfurtransferase like domain containing 3 JBrowse link 5 35,892,783 35,902,243 RGD:8554872
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 JBrowse link 5 157,848,162 157,956,137 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Usp24 ubiquitin specific peptidase 24 JBrowse link 5 125,896,725 126,030,411 RGD:8554872
G Usp45 ubiquitin specific peptidase 45 JBrowse link 5 35,916,763 35,984,525 RGD:8554872
G Usp51 ubiquitin specific peptidase 51 JBrowse link X 19,268,352 19,273,753 RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13217415
RGD:11353416
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:8554872
G Vwce von Willebrand factor C and EGF domains JBrowse link 1 226,687,258 226,717,989 RGD:8554872
G Wdr6 WD repeat domain 6 JBrowse link 8 117,358,345 117,364,761 RGD:8554872
G Wdr62 WD repeat domain 62 JBrowse link 1 90,995,545 91,034,592 RGD:11541053
G Wnt4 Wnt family member 4 JBrowse link 5 155,649,238 155,668,065 RGD:11554173
G Zbed4 zinc finger, BED-type containing 4 JBrowse link 7 129,749,714 129,787,093 RGD:8554872
G Zfc3h1 zinc finger, C3H1-type containing JBrowse link 7 58,365,979 58,424,326 RGD:8554872
G Zfhx3 zinc finger homeobox 3 JBrowse link 19 42,753,983 42,925,794 RGD:8554872
G Zfp446 zinc finger protein 446 JBrowse link 1 65,595,518 65,608,757 RGD:8554872
G Zfp449 zinc finger protein 449 JBrowse link X 73,390,885 73,413,939 RGD:8554872
3-M syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc8 coiled-coil domain containing 8 JBrowse link 1 78,933,372 78,936,700 RGD:13592920
G Cul7 cullin 7 JBrowse link 9 16,629,491 16,643,527 RGD:8554872
RGD:11554173
G Obsl1 obscurin-like 1 JBrowse link 9 82,673,871 82,699,577 RGD:8554872
RGD:13592920
Aarskog syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11554031
RGD:11554030
RGD:11554029
RGD:11554024
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
achondrogenesis type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip11 thyroid hormone receptor interactor 11 JBrowse link 6 125,741,520 125,812,926 RGD:7240710
RGD:8554872
achondrogenesis type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:7240710
RGD:8554872
RGD:11068488
achondrogenesis type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11554173
achondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:13592920
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:1598937
RGD:8554872
RGD:11568054
RGD:7240710
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:1580771
RGD:13592920
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:13592920
G Spred2 sprouty-related, EVH1 domain containing 2 JBrowse link 14 104,268,362 104,290,206 RGD:13592920
Achondroplastic Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
acromesomelic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 RGD:8554872
Acromesomelic Dysplasia, Demirhan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:7240710
RGD:11554173
RGD:8554872
acromesomelic dysplasia, Grebe type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:12487346
RGD:12437083
RGD:12437075
RGD:8554872
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:11554173
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:7240710
RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 RGD:8554872
Alazami Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Larp7 La ribonucleoprotein domain family, member 7 JBrowse link 2 231,866,888 231,882,002 RGD:7240710
RGD:8554872
anauxetic dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef39 Rho guanine nucleotide exchange factor 39 JBrowse link 5 58,998,209 59,001,779 RGD:8554872
G Ca9 carbonic anhydrase 9 JBrowse link 5 59,008,277 59,015,535 RGD:8554872
G Ccdc107 coiled-coil domain containing 107 JBrowse link 5 58,995,211 58,998,620 RGD:8554872
G Ccin calicin JBrowse link 5 59,452,348 59,454,235 RGD:8554872
G Ccl19 C-C motif chemokine ligand 19 JBrowse link 5 58,181,025 58,182,969 RGD:8554872
G Ccl21 C-C motif chemokine ligand 21 JBrowse link 5 58,197,678 58,198,782 RGD:8554872
G Ccl27 C-C motif chemokine ligand 27 JBrowse link 5 58,159,066 58,166,182 RGD:8554872
G Cd72 Cd72 molecule JBrowse link 5 58,943,021 58,950,373 RGD:8554872
G Clta clathrin, light chain A JBrowse link 5 59,490,689 59,509,139 RGD:8554872
G Creb3 cAMP responsive element binding protein 3 JBrowse link 5 59,063,532 59,068,196 RGD:8554872
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 JBrowse link 5 58,393,197 58,402,162 RGD:8554872
G Fam166b family with sequence similarity 166, member B JBrowse link 5 58,883,064 58,884,136 RGD:8554872
G Fam205a family with sequence similarity 205, member A JBrowse link 5 58,282,202 58,303,075 RGD:8554872
G Fam205c family with sequence similarity 205, member C JBrowse link 5 58,303,741 58,310,209 RGD:8554872
G Fam214b family with sequence similarity 214, member B JBrowse link 5 58,477,894 58,484,900 RGD:8554872
G Fam221b family with sequence similarity 221, member B JBrowse link 5 59,156,079 59,165,440 RGD:8554872
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Galt galactose-1-phosphate uridylyltransferase JBrowse link 5 58,144,679 58,147,946 RGD:8554872
G Gba2 glucosylceramidase beta 2 JBrowse link 5 59,068,081 59,079,719 RGD:8554872
G Glipr2 GLI pathogenesis-related 2 JBrowse link 5 59,415,415 59,446,732 RGD:8554872
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 5 59,511,738 59,553,421 RGD:8554872
G Hint2 histidine triad nucleotide binding protein 2 JBrowse link 5 59,150,344 59,152,599 RGD:8554872
G Hrct1 histidine rich carboxyl terminus 1 JBrowse link 5 59,228,138 59,228,915 RGD:8554872
G Il11ra1 interleukin 11 receptor subunit alpha 1 JBrowse link 5 58,149,150 58,159,072 RGD:8554872
G LOC100360821 rCG55159-like JBrowse link 5 58,416,058 58,421,991 RGD:8554872
G Msmp microseminoprotein, prostate associated RGD:8554872
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872
G Olr834 olfactory receptor 834 JBrowse link 5 59,207,120 59,208,058 RGD:8554872
G Olr838 olfactory receptor 838 JBrowse link 5 59,291,988 59,292,944 RGD:8554872
G Phf24 PHD finger protein 24 JBrowse link 5 58,359,744 58,387,446 RGD:8554872
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O JBrowse link 5 58,461,055 58,470,699 RGD:8554872
G Pop1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link 7 73,270,403 73,298,209 RGD:11554173
G Reck reversion-inducing-cysteine-rich protein with kazal motifs JBrowse link 5 59,348,568 59,415,169 RGD:8554872
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 JBrowse link 5 59,080,290 59,088,777 RGD:8554872
G Rusc2 RUN and SH3 domain containing 2 JBrowse link 5 58,860,444 58,883,152 RGD:8554872
G Sit1 signaling threshold regulating transmembrane adaptor 1 JBrowse link 5 58,985,912 58,987,538 RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 RGD:8554872
G Stoml2 stomatin like 2 JBrowse link 5 58,472,561 58,476,158 RGD:8554872
G Tesk1 testis associated actin remodelling kinase 1 JBrowse link 5 58,937,615 58,943,358 RGD:8554872
G Tln1 talin 1 JBrowse link 5 59,033,635 59,063,592 RGD:8554872
G Tmem8b transmembrane protein 8B JBrowse link 5 59,165,552 59,193,772 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
G Unc13b unc-13 homolog B JBrowse link 5 58,505,449 58,714,396 RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
Anauxetic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pop1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link 7 73,270,403 73,298,209 RGD:8554872
RGD:7240710
Atelosteogenesis Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
RGD:11554173
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:13592920
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Wnt5a Wnt family member 5A JBrowse link 16 4,469,451 4,490,271 RGD:7240710
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:8554872
RGD:7240710
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
RGD:7240710
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
autosomal recessive Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11537348
RGD:11537347
RGD:11535948
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-1 NK2 homeobox 1 JBrowse link 6 77,418,096 77,423,383 RGD:7240710
RGD:8554872
RGD:12914770
RGD:11073166
RGD:12914769
RGD:12914768
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:7240710
RGD:8554872
Cerebrooculofacioskeletal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
Cerebrooculofacioskeletal Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:8554872
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
RGD:10401101
RGD:10401092
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:7240710
RGD:8554872
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pam16 presequence translocase associated motor 16 JBrowse link 10 11,146,359 11,153,936 RGD:8554872
RGD:7240710
Cockayne syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:10401080
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:10401087
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:10401090
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
RGD:11554173
RGD:11567232
RGD:10401100
RGD:10401095
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:7246919
RGD:11064547
RGD:8554872
RGD:11554173
RGD:10401108
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:10003139
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10003139
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:10401087
Cockayne Syndrome A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:10401106
RGD:8554872
RGD:7240710
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
Cockayne Syndrome B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
RGD:7240710
Combined Pituitary Hormone Deficiency, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp2b charged multivesicular body protein 2B JBrowse link 11 2,666,405 2,692,213 RGD:8554872
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:8554872
G Pou1f1 POU class 1 homeobox 1 JBrowse link 11 2,645,659 2,662,581 RGD:8554872
G Prop1 PROP paired-like homeobox 1 JBrowse link 10 36,449,920 36,452,381 RGD:7240710
RGD:8554872
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:7240710
RGD:8554872
Combined Pituitary Hormone Deficiency, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd6 acyl-CoA binding domain containing 6 JBrowse link 13 73,196,504 73,334,077 RGD:8554872
G Lhx4 LIM homeobox 4 JBrowse link 13 73,348,874 73,400,416 RGD:7240710
RGD:8554872
congenital hypothyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arpc5 actin related protein 2/3 complex, subunit 5 JBrowse link 13 70,174,970 70,183,879 RGD:11049475
G Atp5pd ATP synthase peripheral stalk subunit d JBrowse link 10 103,967,340 103,972,552 RGD:11049155
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483557
G Cep128 centrosomal protein 128 JBrowse link 6 114,759,474 115,158,004 RGD:8554872
G Duox2 dual oxidase 2 JBrowse link 3 114,218,187 114,237,808 RGD:734905
RGD:8554872
RGD:11554173
G Egr1 early growth response 1 JBrowse link 18 27,657,903 27,660,101 RGD:10395304
G Foxe1 forkhead box E1 JBrowse link 5 61,954,549 61,957,357 RGD:13592920
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449124
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:10003146
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:10003146
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12910128
G Igsf1 immunoglobulin superfamily, member 1 JBrowse link X 136,792,637 136,808,107 RGD:11554173
G Inhbb inhibin subunit beta B JBrowse link 13 35,436,532 35,442,222 RGD:9743921
G Iyd iodotyrosine deiodinase JBrowse link 1 40,086,513 40,100,966 RGD:8554872
G Nefh neurofilament heavy JBrowse link 14 85,181,572 85,191,557 RGD:9693732
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:9693732
G Nefm neurofilament medium JBrowse link 15 44,855,307 44,860,604 RGD:9693732
G Ngfr nerve growth factor receptor JBrowse link 10 83,389,828 83,408,061 RGD:10414076
G Pax8 paired box 8 JBrowse link 3 1,527,316 1,586,019 RGD:1600298
RGD:13592920
RGD:8554872
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:10059677
G Runx2 runt-related transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:13592920
G Slc5a5 solute carrier family 5 member 5 JBrowse link 16 20,297,414 20,307,401 RGD:1624273
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:13592920
G Tpo thyroid peroxidase JBrowse link 6 49,020,918 49,089,855 RGD:1599648
RGD:8554872
RGD:11554173
G Trhr thyrotropin releasing hormone receptor JBrowse link 7 83,113,641 83,153,520 RGD:13592920
G Tshb thyroid stimulating hormone, beta JBrowse link 2 205,207,799 205,215,199 RGD:8554872
G Tshr thyroid stimulating hormone receptor JBrowse link 6 115,170,290 115,306,871 RGD:11554173
RGD:8554872
G Tubb1 tubulin, beta 1 class VI JBrowse link 3 172,550,252 172,558,089 RGD:8554872
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep128 centrosomal protein 128 JBrowse link 6 114,759,474 115,158,004 RGD:8554872
G Tshr thyroid stimulating hormone receptor JBrowse link 6 115,170,290 115,306,871 RGD:8554872
RGD:7240710
congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax8 paired box 8 JBrowse link 3 1,527,316 1,586,019 RGD:7240710
congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tshb thyroid stimulating hormone, beta JBrowse link 2 205,207,799 205,215,199 RGD:7240710
RGD:8554872
congenital nongoitrous hypothyroidism 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:7240710
RGD:8554872
congenital nongoitrous hypothyroidism 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 JBrowse link 10 86,683,875 86,690,815 RGD:8554872
G Thra thyroid hormone receptor alpha JBrowse link 10 86,657,285 86,684,935 RGD:7240710
RGD:8554872
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
RGD:11554173
Desbuquois dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cant1 calcium activated nucleotidase 1 JBrowse link 10 107,432,500 107,445,634 RGD:8554872
RGD:11554173
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:11554173
Desbuquois Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cant1 calcium activated nucleotidase 1 JBrowse link 10 107,432,500 107,445,634 RGD:7240710
RGD:8554872
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:8554872
Desbuquois Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:8554872
RGD:7240710
diastrophic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:7240710
RGD:8554872
RGD:13208932
RGD:13208867
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:8554872
Dyggve-Melchior-Clausen disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dym dymeclin JBrowse link 18 70,996,074 71,313,033 RGD:7240710
RGD:8554872
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
fibrochondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:8554872
RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
RGD:11554173
Fibrochondrogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:7240710
Fibrochondrogenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 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
Gerodermia Osteodysplastica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gorab golgin, RAB6-interacting JBrowse link 13 81,682,207 81,698,827 RGD:7240710
RGD:8554872
RGD:11554173
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:7240710
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
hypochondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
RGD:11568026
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pus7 pseudouridine synthase 7 JBrowse link 4 7,889,727 7,931,357 RGD:7240710
isolated growth hormone deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:8554872
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:8554872
RGD:12904703
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:1601315
G Ghrhr growth hormone releasing hormone receptor JBrowse link 4 85,587,321 85,602,389 RGD:1601337
RGD:8554872
RGD:1601338
G Ghsr growth hormone secretagogue receptor JBrowse link 2 113,065,953 113,071,265 RGD:12904721
G Hpca hippocalcin JBrowse link 5 147,295,124 147,305,757 RGD:9693682
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910859
G Pou1f1 POU class 1 homeobox 1 JBrowse link 11 2,645,659 2,662,581 RGD:11554173
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:730133
RGD:12880373
G Tgrdw thyroglobulin; rdw mutant RGD:730133
RGD:12880373
isolated growth hormone deficiency type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Cript CXXC repeat containing interactor of PDZ3 domain JBrowse link 6 10,594,147 10,602,103 RGD:8554872
G Dna2 DNA replication helicase/nuclease 2 RGD:8694132
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:8554872
RGD:12904729
RGD:7240710
G Ghrh growth hormone releasing hormone JBrowse link 3 153,449,124 153,468,794 RGD:13592920
G Ghrhr growth hormone releasing hormone receptor JBrowse link 4 85,587,321 85,602,389 RGD:8554872
G Poc1a POC1 centriolar protein A JBrowse link 8 114,982,764 115,050,844 RGD:8554872
G Xrcc4 X-ray repair cross complementing 4 JBrowse link 2 18,674,496 18,927,463 RGD:8554872
isolated growth hormone deficiency type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:7240710
RGD:8554872
G Ghrhr growth hormone releasing hormone receptor JBrowse link 4 85,587,321 85,602,389 RGD:8554872
isolated growth hormone deficiency type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:8554872
RGD:7240710
isolated growth hormone deficiency type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:7240710
RGD:8554872
isolated growth hormone deficiency type V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 JBrowse link 2 216,481,457 216,510,051 RGD:8554872
RGD:7240710
Kenny-Caffey Syndrome, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam111a family with sequence similarity 111, member A JBrowse link 1 229,003,778 229,019,532 RGD:7240710
RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:11554173
Kniest dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11554173
Kowarski Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:1601313
RGD:8554872
RGD:7240710
Laron syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:7240710
RGD:8554872
RGD:11567215
RGD:11565835
RGD:11565834
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8549489
Laron Syndrome Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stat5b signal transducer and activator of transcription 5B JBrowse link 10 88,686,207 88,712,313 RGD:7240710
RGD:8554872
RGD:11554173
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
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 15 93,647,307 93,667,395 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox3 SRY-box 3 JBrowse link X 144,035,162 144,037,364 RGD:8554872
RGD:11535974
Metatropic Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:8554872
RGD:11554173
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, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 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:8554872
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
mulibrey nanism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trim37 tripartite motif-containing 37 JBrowse link 10 74,436,165 74,568,636 RGD:7240710
RGD:8554872
RGD:11554173
neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glis3 GLIS family zinc finger 3 JBrowse link 1 246,380,816 246,564,385 RGD:7240710
RGD:8554872
Oliver-McFarlane Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
RGD:7240710
otospondylomegaepiphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:7240710
RGD:8554872
RGD:12904710
RGD:11554173
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
RGD:11554173
Parastremmatic Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:8554872
Pendred syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxi1 forkhead box I1 JBrowse link 10 19,160,566 19,164,505 RGD:8554872
RGD:11554173
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8554872
RGD:11554173
G Kcnj9 potassium voltage-gated channel subfamily J member 9 JBrowse link 13 90,703,046 90,710,148 RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:7240710
RGD:8554872
RGD:11554173
RGD:7421514
RGD:7421510
RGD:7411554
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11667102
pseudoachondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Comp cartilage oligomeric matrix protein JBrowse link 16 20,798,437 20,807,070 RGD:7240710
RGD:8554872
RGD:11554173
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:7240710
RGD:8554872
Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:13592920
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:11554173
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
RGD:11554173
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Wnt5a Wnt family member 5A JBrowse link 16 4,469,451 4,490,271 RGD:8554872
RGD:11554173
SADDAN term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
RGD:7240710
Seckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:7240710
RGD:8554872
RGD:10053614
G Cep152 centrosomal protein 152 JBrowse link 3 117,822,799 117,894,856 RGD:11554173
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:11554173
Seckel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:11554173
G Rbbp8 RB binding protein 8, endonuclease JBrowse link 18 3,134,630 3,227,702 RGD:7240710
RGD:8554872
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
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cript CXXC repeat containing interactor of PDZ3 domain JBrowse link 6 10,594,147 10,602,103 RGD:7240710
RGD:8554872
G Pigf phosphatidylinositol glycan anchor biosynthesis, class F JBrowse link 6 10,565,841 10,593,972 RGD:8554872
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872
RGD:7240710
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tkt transketolase JBrowse link 16 6,609,670 6,634,608 RGD:8554872
RGD:7240710
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:8554872
RGD:7240710
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc2 exosome component 2 JBrowse link 3 10,151,734 10,161,997 RGD:8554872
RGD:7240710
Short Stature, Idiopathic, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:7240710
RGD:8554872
G Ghsr growth hormone secretagogue receptor JBrowse link 2 113,065,953 113,071,265 RGD:8554872
RGD:11554173
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910853
G Spag17 sperm associated antigen 17 JBrowse link 2 202,159,659 202,452,361 RGD:11535959
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xrcc4 X-ray repair cross complementing 4 JBrowse link 2 18,674,496 18,927,463 RGD:8554872
RGD:7240710
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arcn1 archain 1 JBrowse link 8 49,051,257 49,075,861 RGD:8554872
RGD:7240710
Silver-Russell 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:8554872
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11554173
G Hmga2 high mobility group AT-hook 2 JBrowse link 7 65,159,944 65,275,408 RGD:8554872
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:11554173
RGD:8554872
G Ins1 insulin 1 JBrowse link 1 272,799,784 272,800,351 RGD:8554872
G Plag1 PLAG1 zinc finger JBrowse link 5 16,788,186 16,842,827 RGD:8554872
Silverman-Handmaker type dyssegmental dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:7240710
RGD:8554872
RGD:11554173
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 JBrowse link 5 155,914,517 155,922,269 RGD:8554872
Smith-McCort dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dym dymeclin JBrowse link 18 70,996,074 71,313,033 RGD:7240710
RGD:8554872
G Rab33b RAB33B, member RAS oncogene family JBrowse link 2 140,541,619 140,552,220 RGD:8554872
RGD:13592920
Smith-McCort Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab33b RAB33B, member RAS oncogene family JBrowse link 2 140,541,619 140,552,220 RGD:7240710
RGD:8554872
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddr2 discoidin domain receptor tyrosine kinase 2 JBrowse link 13 88,311,639 88,436,561 RGD:7240710
RGD:8554872
thanatophoric dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:2289863
RGD:8554872
RGD:12910972
RGD:11568030
RGD:11554173
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:13592920
Thanatophoric Dysplasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
RGD:7240710
Three M Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul7 cullin 7 JBrowse link 9 16,629,491 16,643,527 RGD:8554872
RGD:7240710
Three M Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Obsl1 obscurin-like 1 JBrowse link 9 82,673,871 82,699,577 RGD:7240710
RGD:8554872
Three M Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc8 coiled-coil domain containing 8 JBrowse link 1 78,933,372 78,936,700 RGD:7240710
RGD:8554872
Thyroid Dyshormonogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sla src-like adaptor JBrowse link 7 107,585,055 107,604,950 RGD:8554872
G Slc5a5 solute carrier family 5 member 5 JBrowse link 16 20,297,414 20,307,401 RGD:8554872
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:8554872
Thyroid Dyshormonogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc5a5 solute carrier family 5 member 5 JBrowse link 16 20,297,414 20,307,401 RGD:7240710
RGD:8554872
Thyroid Dyshormonogenesis 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpo thyroid peroxidase JBrowse link 6 49,020,918 49,089,855 RGD:7240710
RGD:8554872
Thyroid Dyshormonogenesis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:7240710
RGD:8554872
Thyroid Dyshormonogenesis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iyd iodotyrosine deiodinase JBrowse link 1 40,086,513 40,100,966 RGD:7240710
RGD:8554872
Thyroid Dyshormonogenesis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Duoxa2 dual oxidase maturation factor 2 JBrowse link 3 114,236,718 114,240,086 RGD:7240710
RGD:8554872
Thyroid Dyshormonogenesis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Duox2 dual oxidase 2 JBrowse link 3 114,218,187 114,237,808 RGD:7240710
RGD:8554872
Weaver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit JBrowse link 4 77,284,404 77,347,011 RGD:7240710
RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:11554173
RGD:8554872
G Suz12 SUZ12 polycomb repressive complex 2 subunit JBrowse link 10 67,325,101 67,371,588 RGD:8554872
Weill-Marchesani syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 JBrowse link 7 18,409,147 18,439,012 RGD:7240710
RGD:8554872
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 JBrowse link 1 127,802,872 128,126,764 RGD:13592920
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:1601144
RGD:8554872
RGD:11554173
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
RGD:11554173
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:9150949
Weill-Marchesani Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710
RGD:8554872
Weill-Marchesani-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 JBrowse link 1 127,802,872 128,126,764 RGD:7240710
RGD:8554872
XFE progeroid syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:13592920
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      endocrine system disease 4702
        Dwarfism 302
          3-M syndrome + 3
          Aarskog syndrome + 2
          Abuse Dwarfism Syndrome 0
          Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
          Alopecia Contractures Dwarfism Mental Retardation 0
          Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
          Anauxetic Dysplasia 2 1
          Astley-Kendall Syndrome 0
          Asymmetric Short Stature Syndrome 0
          Atelosteogenesis Type 3 1
          Bangstad Syndrome 0
          Bird Headed Dwarfism Montreal Type 0
          Boomerang dysplasia 1
          Brachydactylous Dwarfism Mseleni Type 0
          Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
          Brunoni Syndrome 0
          Bullous Dystrophy, Hereditary Macular Type 0
          Cantu Sanchez-Corona Fragoso Syndrome 0
          Chondrodysplasia Calcificans Metaphysealis 0
          Chondrodysplasia, Megarbane-Dagher-Melki Type 1
          Cockayne syndrome + 11
          De Sanctis-Cacchione Syndrome 1
          Desbuquois dysplasia + 2
          Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 1
          Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 0
          Dwarfism Stiff Joint Ocular Abnormalities 0
          Dwarfism Tall Vertebrae 0
          Dwarfism, Familial, with Muscle Spasms 0
          Dwarfism, Levi Type 0
          Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 0
          Dyggve-Melchior-Clausen disease + 2
          Dyssegmental Dysplasia with Glaucoma 0
          ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
          Gerodermia Osteodysplastica 1
          Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
          Hadziselimovic Syndrome 0
          Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 0
          Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature 1
          Kenny-Caffey Syndrome, Type 2 2
          Keratosis Follicularis Dwarfism Cerebral Atrophy 0
          Kniest dysplasia 1
          Laplane Fontaine Lagardere Syndrome 0
          Laron syndrome + 3
          Loucks-Innes Syndrome 1
          MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM + 2
          MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 1
          Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 0
          Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 1
          Mesomelic Dwarfism Reinhardt Pfeiffer Type 0
          Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 0
          Metatropic Dwarfism 1
          Metatropic Dwarfism, Type II 0
          Microcephalic Osteodysplastic Primordial Dwarfism + 2
          Microcephalic Primordial Dwarfism Toriello Type 0
          Mollica Pavone Antener Syndrome 0
          Nievergelt Syndrome 0
          Oculopalatocerebral Syndrome 0
          Oliver-McFarlane Syndrome 1
          Parastremmatic Dwarfism 1
          Proportionate Dwarfism, with Hip Dislocation 0
          Pseudodiastrophic Dysplasia 0
          Robinow syndrome + 7
          Rommen Mueller Sybert Syndrome 0
          Ruvalcaba Syndrome 0
          SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
          SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1
          SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS 1
          SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1
          SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES 1
          SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 1
          SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY 1
          Seckel Like Syndrome Type Buebel 0
          Seckel Syndrome 3 0
          Seckel syndrome 1 3
          Seckel syndrome 2 2
          Seckel syndrome 4 2
          Short Limb Dwarfism Al Gazali Type 0
          Short Stature and Facioauriculothoracic Malformations 0
          Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
          Short Stature-Obesity Syndrome 0
          Silver-Russell syndrome + 6
          Silverman-Handmaker type dyssegmental dysplasia 2
          Singh Chhaparwal Dhanda Syndrome 0
          Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
          Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 1
          Synovial Chondromatosis, Familial, with Dwarfism 0
          Thoraco Limb Dysplasia Rivera Type 0
          Thoracomelic Dysplasia 0
          Tryptophanuria with Dwarfism 0
          Weill-Marchesani syndrome + 6
          Weill-Marchesani-Like Syndrome 1
          achondroplasia + 10
          acromesomelic dysplasia + 4
          anauxetic dysplasia 1 44
          congenital hypothyroidism + 44
          diastrophic dysplasia 1
          fibrochondrogenesis + 2
          hypochondroplasia 1
          isolated growth hormone deficiency + 28
          mulibrey nanism 1
          otospondylomegaepiphyseal dysplasia 2
          rapadilino syndrome 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      Skin and Connective Tissue Diseases 3925
        connective tissue disease 2584
          bone disease 2124
            bone development disease 894
              Dwarfism 302
                3-M syndrome + 3
                Aarskog syndrome + 2
                Abuse Dwarfism Syndrome 0
                Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
                Alopecia Contractures Dwarfism Mental Retardation 0
                Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
                Anauxetic Dysplasia 2 1
                Astley-Kendall Syndrome 0
                Asymmetric Short Stature Syndrome 0
                Atelosteogenesis Type 3 1
                Bangstad Syndrome 0
                Bird Headed Dwarfism Montreal Type 0
                Boomerang dysplasia 1
                Brachydactylous Dwarfism Mseleni Type 0
                Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
                Brunoni Syndrome 0
                Bullous Dystrophy, Hereditary Macular Type 0
                Cantu Sanchez-Corona Fragoso Syndrome 0
                Chondrodysplasia Calcificans Metaphysealis 0
                Chondrodysplasia, Megarbane-Dagher-Melki Type 1
                Cockayne syndrome + 11
                De Sanctis-Cacchione Syndrome 1
                Desbuquois dysplasia + 2
                Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 1
                Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 0
                Dwarfism Stiff Joint Ocular Abnormalities 0
                Dwarfism Tall Vertebrae 0
                Dwarfism, Familial, with Muscle Spasms 0
                Dwarfism, Levi Type 0
                Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 0
                Dyggve-Melchior-Clausen disease + 2
                Dyssegmental Dysplasia with Glaucoma 0
                ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
                Gerodermia Osteodysplastica 1
                Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
                Hadziselimovic Syndrome 0
                Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 0
                Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature 1
                Kenny-Caffey Syndrome, Type 2 2
                Keratosis Follicularis Dwarfism Cerebral Atrophy 0
                Kniest dysplasia 1
                Laplane Fontaine Lagardere Syndrome 0
                Laron syndrome + 3
                Loucks-Innes Syndrome 1
                MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM + 2
                MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 1
                Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 0
                Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 1
                Mesomelic Dwarfism Reinhardt Pfeiffer Type 0
                Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 0
                Metatropic Dwarfism 1
                Metatropic Dwarfism, Type II 0
                Microcephalic Osteodysplastic Primordial Dwarfism + 2
                Microcephalic Primordial Dwarfism Toriello Type 0
                Mollica Pavone Antener Syndrome 0
                Nievergelt Syndrome 0
                Oculopalatocerebral Syndrome 0
                Oliver-McFarlane Syndrome 1
                Parastremmatic Dwarfism 1
                Proportionate Dwarfism, with Hip Dislocation 0
                Pseudodiastrophic Dysplasia 0
                Robinow syndrome + 7
                Rommen Mueller Sybert Syndrome 0
                Ruvalcaba Syndrome 0
                SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
                SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1
                SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS 1
                SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1
                SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES 1
                SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 1
                SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY 1
                Seckel Like Syndrome Type Buebel 0
                Seckel Syndrome 3 0
                Seckel syndrome 1 3
                Seckel syndrome 2 2
                Seckel syndrome 4 2
                Short Limb Dwarfism Al Gazali Type 0
                Short Stature and Facioauriculothoracic Malformations 0
                Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
                Short Stature-Obesity Syndrome 0
                Silver-Russell syndrome + 6
                Silverman-Handmaker type dyssegmental dysplasia 2
                Singh Chhaparwal Dhanda Syndrome 0
                Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
                Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 1
                Synovial Chondromatosis, Familial, with Dwarfism 0
                Thoraco Limb Dysplasia Rivera Type 0
                Thoracomelic Dysplasia 0
                Tryptophanuria with Dwarfism 0
                Weill-Marchesani syndrome + 6
                Weill-Marchesani-Like Syndrome 1
                achondroplasia + 10
                acromesomelic dysplasia + 4
                anauxetic dysplasia 1 44
                congenital hypothyroidism + 44
                diastrophic dysplasia 1
                fibrochondrogenesis + 2
                hypochondroplasia 1
                isolated growth hormone deficiency + 28
                mulibrey nanism 1
                otospondylomegaepiphyseal dysplasia 2
                rapadilino syndrome 1
paths to the root

NHLBI Logo

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