ONTOLOGY REPORT - ANNOTATIONS


Term:Bone Diseases, Developmental
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Accession:RDO:0000275 term browser browse the term
Synonyms:exact_synonym: Bone Dysplasia;   Bone Dysplasias;   Developmental Bone Disease
 primary_id: MESH:D001848


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Bone Diseases, Developmental term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Comp cartilage oligomeric matrix protein ISS RGD:1298777 RGD
G Flnb filamin B, beta GBrowse link ISS 15 18,949,027 19,082,504 RGD:1601168 RGD
G Flnb filamin B, beta GBrowse link ISS 15 18,949,027 19,082,504 RGD:1601170 RGD
G Ghr growth hormone receptor GBrowse link ISS 2 52,496,517 52,658,066 RGD:704404 RGD
G Sox9 SRY (sex determining region Y)-box 9 GBrowse link ISS 10 102,392,187 102,394,256 RGD:1599093 RGD
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator GBrowse link ISS 13 11,958,002 12,014,371 RGD:1599463 RGD
Aarskog syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgd1 FYVE, RhoGEF and PH domain containing 1 GBrowse link ISS X 40,364,211 40,407,213 RGD:7240710 OMIM
Achondrogenesis type 1A term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Trip11 thyroid hormone receptor interactor 11 GBrowse link ISS 6 126,119,081 126,188,777 RGD:7240710 OMIM
Achondrogenesis type 1B term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc26a2 solute carrier family 26 (sulfate transporter), member 2 GBrowse link ISS 18 57,170,814 57,184,489 RGD:7240710 OMIM
Achondrogenesis type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col2a1 collagen, type II, alpha 1 GBrowse link ISS 7 136,679,219 136,707,976 RGD:7240710 OMIM
Achondroplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:704404 RGD
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:1598937 RGD
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:7240710 OMIM
G Npr2 natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) GBrowse link ISS 5 60,107,563 60,127,960 RGD:1580771 RGD
Acrocapitofemoral Dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ihh Indian hedgehog GBrowse link ISS 9 74,287,115 74,293,332 RGD:7240710 OMIM
Acrocephalopolysyndactyly Type II term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rab23 RAB23, member RAS oncogene family GBrowse link ISS 9 32,465,752 32,486,615 RGD:7240710 OMIM
Acrocephalosyndactylia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr1 Fibroblast growth factor receptor 1 GBrowse link ISS 16 70,869,974 70,910,045 RGD:704404 RGD
G Fgfr1 Fibroblast growth factor receptor 1 GBrowse link ISS 16 70,869,974 70,910,045 RGD:7240710 OMIM
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:704404 RGD
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
G Twist1 twist basic helix-loop-helix transcription factor 1 GBrowse link ISS 6 52,605,869 52,607,863 RGD:1624353 RGD
G Twist1 twist basic helix-loop-helix transcription factor 1 GBrowse link ISS 6 52,605,869 52,607,863 RGD:7240710 OMIM
Acromesomelic dysplasia Hunter-Thompson type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gdf5 growth differentiation factor 5 ISS RGD:7240710 OMIM
Acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Npr2 natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) GBrowse link ISS 5 60,107,563 60,127,960 RGD:7240710 OMIM
Anauxetic dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rmrp RNA component of mitochondrial RNA processing endoribonuclease GBrowse link ISS 15 26,789,869 26,790,125 RGD:7240710 OMIM
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Por P450 (cytochrome) oxidoreductase GBrowse link ISS 12 22,078,629 22,097,301 RGD:7240710 OMIM
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
Asphyxiating Thoracic Dystrophy 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ift80 intraflagellar transport 80 homolog (Chlamydomonas) GBrowse link ISS 2 158,892,673 158,987,059 RGD:7240710 OMIM
Asphyxiating Thoracic Dystrophy 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 GBrowse link ISS 8 3,826,843 4,072,644 RGD:7240710 OMIM
Atelosteogenesis type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc26a2 solute carrier family 26 (sulfate transporter), member 2 GBrowse link ISS 18 57,170,814 57,184,489 RGD:7240710 OMIM
Atelosteogenesis, type 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Flnb filamin B, beta GBrowse link ISS 15 18,949,027 19,082,504 RGD:7240710 OMIM
G Sct secretin GBrowse link ISS 1 201,472,250 201,472,944 RGD:7240710 OMIM
ATELOSTEOGENESIS, TYPE III term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Flnb filamin B, beta GBrowse link ISS 15 18,949,027 19,082,504 RGD:7240710 OMIM
G Sct secretin GBrowse link ISS 1 201,472,250 201,472,944 RGD:7240710 OMIM
Basal Cell Nevus Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ptch1 patched 1 GBrowse link ISS 17 7,088,234 7,142,459 RGD:7240710 OMIM
Bohring syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Asxl1 additional sex combs like 1 GBrowse link ISS 3 143,703,295 143,767,523 RGD:7240710 OMIM
Boomerang dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Flnb filamin B, beta GBrowse link ISS 15 18,949,027 19,082,504 RGD:7240710 OMIM
G Sct secretin GBrowse link ISS 1 201,472,250 201,472,944 RGD:7240710 OMIM
Brachydactyly-Syndactyly Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hoxd13 homeo box D13 GBrowse link ISS 3 57,283,682 57,286,998 RGD:7240710 OMIM
Brachyolmia Type 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 GBrowse link ISS 12 43,226,933 43,265,889 RGD:7240710 OMIM
Bruck syndrome 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 GBrowse link ISS 8 97,525,279 97,623,152 RGD:7240710 OMIM
Buschke-Ollendorff syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lemd3 LEM domain containing 3 GBrowse link ISS 7 60,232,118 60,281,459 RGD:7240710 OMIM
C SYNDROME term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cd96 CD96 molecule GBrowse link ISS 11 56,183,593 56,258,568 RGD:7240710 OMIM
Camurati-Engelmann Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tgfb1 transforming growth factor, beta 1 GBrowse link ISS 1 80,894,705 80,911,020 RGD:7240710 OMIM
Cartilage-hair hypoplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rmrp RNA component of mitochondrial RNA processing endoribonuclease GBrowse link ISS 15 26,789,869 26,790,125 RGD:7240710 OMIM
CATSHL syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:7240710 OMIM
Cerebrooculofacioskeletal Syndrome 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 GBrowse link ISS 16 8,024,881 8,091,587 RGD:7240710 OMIM
Cherubism term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Sh3bp2 SH3-domain binding protein 2 GBrowse link ISS 14 81,818,728 81,855,875 RGD:1599339 RGD
G Sh3bp2 SH3-domain binding protein 2 GBrowse link ISS 14 81,818,728 81,855,875 RGD:7240710 OMIM
Chondrodysplasia Punctata term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Arse arylsulfatase E (chondrodysplasia punctata 1) GBrowse link Susceptibility ISS 2 122,663,037 122,670,111 RGD:1599238 RGD
G Ebp emopamil binding protein (sterol isomerase) GBrowse link ISS X 26,331,199 26,337,542 RGD:734908 RGD
Chondrodysplasia punctata 2, X-linked dominant term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ebp emopamil binding protein (sterol isomerase) GBrowse link ISS X 26,331,199 26,337,542 RGD:7240710 OMIM
Chondrodysplasia punctata, brachytelephalangic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Arse arylsulfatase E (chondrodysplasia punctata 1) GBrowse link ISS 2 122,663,037 122,670,111 RGD:7240710 OMIM
Chondrodysplasia Punctata, Rhizomelic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Agps alkylglycerone phosphate synthase ISS RGD:1300366 RGD
G Gnpat glyceronephosphate O-acyltransferase GBrowse link ISS 19 55,033,777 55,059,491 RGD:704404 RGD
G Pex7 peroxisomal biogenesis factor 7 GBrowse link ISS 1 15,099,265 15,163,734 RGD:704404 RGD
G Pex7 peroxisomal biogenesis factor 7 GBrowse link ISS 1 15,099,265 15,163,734 RGD:7240710 OMIM
Chondrodysplasia, Grebe type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gdf5 growth differentiation factor 5 ISS RGD:7240710 OMIM
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Nkx2-1 NK2 homeobox 1 GBrowse link ISS 6 76,916,943 76,920,133 RGD:7240710 OMIM
G Ttf1 transcription termination factor, RNA polymerase I GBrowse link ISS 3 8,067,017 8,086,185 RGD:7240710 OMIM
Cleidocranial Dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Runx2 runt-related transcription factor 2 GBrowse link ISS 9 11,869,234 12,025,219 RGD:1601649 RGD
G Runx2 runt-related transcription factor 2 GBrowse link ISS 9 11,869,234 12,025,219 RGD:7240710 OMIM
Cockayne Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 GBrowse link ISS 16 8,024,881 8,091,587 RGD:7240710 OMIM
Congenital Hypothyroidism term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bglap bone gamma-carboxyglutamate (gla) protein GBrowse link IED 2 180,482,313 180,483,290 RGD:6483557 RGD
G Duox2 dual oxidase 2 GBrowse link ISS 3 109,059,360 109,077,106 RGD:734905 RGD
G Pax8 paired box 8 GBrowse link ISS 3 2,671,478 2,726,801 RGD:1600298 RGD
G Slc5a5 solute carrier family 5 (sodium iodide symporter), member 5 GBrowse link ISS 16 19,046,200 19,056,281 RGD:1624273 RGD
G Tpo thyroid peroxidase GBrowse link ISS 6 47,954,848 48,025,740 RGD:1599648 RGD
G Tshr thyroid stimulating hormone receptor GBrowse link ISS 6 115,024,999 115,162,531 RGD:7240710 OMIM
Cranioectodermal Dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ift122 intraflagellar transport 122 homolog (Chlamydomonas) GBrowse link ISS 4 151,982,026 152,052,635 RGD:7240710 OMIM
CRANIOECTODERMAL DYSPLASIA 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Wdr35 WD repeat domain 35 GBrowse link ISS 6 32,522,578 32,523,842 RGD:7240710 OMIM
Craniofacial Dysostosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
Craniolenticulosutural Dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Sec23a Sec23 homolog A (S. cerevisiae) GBrowse link ISS 6 79,660,575 79,706,898 RGD:7240710 OMIM
Craniosynostoses term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fbn1 fibrillin 1 GBrowse link ISS 3 112,608,480 112,804,118 RGD:1601145 RGD
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:6480630 RGD
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:6480631 RGD
G Msx2 msh homeobox 2 GBrowse link ISS 17 17,243,262 17,248,927 RGD:1600491 RGD
G Nell1 NEL-like 1 (chicken) GBrowse link IPM 1 99,805,922 100,758,002 RGD:633405 RGD
Craniosynostosis radial aplasia syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Recql4 RecQ protein-like 4 GBrowse link ISS 7 114,752,863 114,760,027 RGD:7240710 OMIM
Craniosynostosis, Type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Msx2 msh homeobox 2 GBrowse link ISS 17 17,243,262 17,248,927 RGD:7240710 OMIM
Crouzon Syndrome With Acanthosis Nigricans term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:7240710 OMIM
Cutis Gyrata Syndrome of Beare And Stevenson term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
De Sanctis-Cacchione syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 GBrowse link ISS 16 8,024,881 8,091,587 RGD:7240710 OMIM
Desbuquois syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cant1 calcium activated nucleotidase 1 GBrowse link ISS 10 108,405,355 108,420,225 RGD:7240710 OMIM
Diastrophic dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc26a2 solute carrier family 26 (sulfate transporter), member 2 GBrowse link ISS 18 57,170,814 57,184,489 RGD:7240710 OMIM
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Por P450 (cytochrome) oxidoreductase GBrowse link ISS 12 22,078,629 22,097,301 RGD:7240710 OMIM
Dwarfism term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acan aggrecan GBrowse link ISS 1 134,787,341 134,848,992 RGD:1300269 RGD
G Atr ataxia telangiectasia and Rad3 related GBrowse link Susceptibility ISS 8 100,936,342 101,014,881 RGD:1599404 RGD
G Col2a1 collagen, type II, alpha 1 GBrowse link ISS 7 136,679,219 136,707,976 RGD:7240710 OMIM
G Ctgf connective tissue growth factor GBrowse link ISS 1 21,327,099 21,330,215 RGD:734846 RGD
G Gdf5 growth differentiation factor 5 ISS RGD:704404 RGD
G Gdf5 growth differentiation factor 5 ISS RGD:704404 RGD
G Ihh Indian hedgehog GBrowse link ISS 9 74,287,115 74,293,332 RGD:1600033 RGD
G Pcsk1 proprotein convertase subtilisin/kexin type 1 GBrowse link ISS 2 1,923,309 1,970,238 RGD:737721 RGD
G Tbce tubulin folding cofactor E GBrowse link ISS 17 59,485,451 59,533,041 RGD:1599303 RGD
G Trim37 tripartite motif-containing 37 GBrowse link ISS 10 75,404,911 75,537,072 RGD:1599667 RGD
S WIC-TgrdwKts TAS RGD:1302502 RGD
Dwarfism, Pituitary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gh1 growth hormone 1 GBrowse link ISS 10 95,692,240 95,694,117 RGD:1601313 RGD
G Gh1 growth hormone 1 GBrowse link ISS 10 95,692,240 95,694,117 RGD:704404 RGD
G Ghr growth hormone receptor GBrowse link ISS 2 52,496,517 52,658,066 RGD:1601315 RGD
G Ghrhr growth hormone releasing hormone receptor GBrowse link IAGP 4 84,135,530 84,148,503 RGD:1601338 RGD
G Ghrhr growth hormone releasing hormone receptor GBrowse link ISS 4 84,135,530 84,148,503 RGD:1601337 RGD
G Ghrhr growth hormone releasing hormone receptor GBrowse link ISS 4 84,135,530 84,148,503 RGD:704404 RGD
S SDR/Slc Spontaneous dwarf rat Model TAS RGD:1578505 RGD
Dyggve-Melchior-Clausen syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dym dymeclin GBrowse link ISS 18 71,889,053 72,188,251 RGD:7240710 OMIM
Dysostoses term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dll3 delta-like 3 (Drosophila) GBrowse link ISS 1 83,373,482 83,381,219 RGD:1599775 RGD
G Efnb1 ephrin B1 GBrowse link ISS X 87,163,176 87,175,982 RGD:1599802 RGD
Dyssegmental dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hspg2 heparan sulfate proteoglycan 2 ISS RGD:7240710 OMIM
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ikbkg inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma GBrowse link ISS X 160,386,558 160,420,190 RGD:7240710 OMIM
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pvrl4 poliovirus receptor-related 4 GBrowse link ISS 13 87,275,975 87,294,493 RGD:7240710 OMIM
Ellis-Van Creveld Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Evc Ellis van Creveld syndrome GBrowse link ISS 14 79,020,120 79,060,046 RGD:1302823 RGD
G Evc Ellis van Creveld syndrome GBrowse link ISS 14 79,020,120 79,060,046 RGD:7240710 OMIM
G Evc2 Ellis van Creveld syndrome 2 GBrowse link Susceptibility ISS 14 78,915,869 79,018,416 RGD:1600212 RGD
G Evc2 Ellis van Creveld syndrome 2 GBrowse link ISS 14 78,915,869 79,018,416 RGD:7240710 OMIM
Epiphyseal dysplasia, multiple, 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Comp cartilage oligomeric matrix protein ISS RGD:7240710 OMIM
Epiphyseal dysplasia, multiple, 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col9a2 collagen, type IX, alpha 2 GBrowse link ISS 5 141,623,365 141,640,224 RGD:7240710 OMIM
Epiphyseal dysplasia, multiple, 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col9a3 collagen, type IX, alpha 3 GBrowse link ISS 3 169,704,893 169,712,492 RGD:7240710 OMIM
Epiphyseal dysplasia, multiple, 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc26a2 solute carrier family 26 (sulfate transporter), member 2 GBrowse link ISS 18 57,170,814 57,184,489 RGD:7240710 OMIM
Epiphyseal dysplasia, multiple, 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Matn3 matrilin 3 GBrowse link ISS 6 32,439,372 32,459,031 RGD:7240710 OMIM
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col2a1 collagen, type II, alpha 1 GBrowse link ISS 7 136,679,219 136,707,976 RGD:7240710 OMIM
Exostoses, Multiple Hereditary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ext1 exostosin glycosyltransferase 1 GBrowse link ISS 7 89,392,837 89,671,523 RGD:1598916 RGD
EXOSTOSES, MULTIPLE, TYPE I term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ext1 exostosin glycosyltransferase 1 GBrowse link ISS 7 89,392,837 89,671,523 RGD:7240710 OMIM
EXOSTOSES, MULTIPLE, TYPE II term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ext2 exostosin glycosyltransferase 2 GBrowse link ISS 3 78,111,436 78,244,444 RGD:7240710 OMIM
Fairbank disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Comp cartilage oligomeric matrix protein ISS RGD:7240710 OMIM
Fibrous Dysplasia, Polyostotic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gnas GNAS complex locus GBrowse link ISS 3 165,213,399 165,214,551 RGD:1580402 RGD
G Gnas GNAS complex locus GBrowse link ISS 3 165,213,399 165,214,551 RGD:1601378 RGD
G Gnas GNAS complex locus GBrowse link ISS 3 165,213,399 165,214,551 RGD:7240710 OMIM
Focal Dermal Hypoplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Porcn porcupine homolog (Drosophila) GBrowse link ISS X 26,317,388 26,330,177 RGD:7240710 OMIM
Freeman-Sheldon syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Myh3 myosin, heavy chain 3, skeletal muscle, embryonic GBrowse link ISS 10 53,776,858 53,800,677 RGD:7240710 OMIM
Frontometaphyseal dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Flna filamin A, alpha GBrowse link ISS X 160,362,334 160,385,626 RGD:7240710 OMIM
FRONTONASAL DYSPLASIA 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alx3 ALX homeobox 3 GBrowse link ISS 2 203,156,009 203,157,503 RGD:7240710 OMIM
FRONTONASAL DYSPLASIA 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alx4 ALX homeobox 4 GBrowse link ISS 3 78,057,714 78,094,285 RGD:7240710 OMIM
FRONTONASAL DYSPLASIA 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alx1 ALX homeobox 1 GBrowse link ISS 7 41,090,481 41,110,281 RGD:7240710 OMIM
GELEOPHYSIC DYSPLASIA 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Adamtsl2 ADAMTS-like 2 GBrowse link ISS 3 5,976,490 6,004,532 RGD:7240710 OMIM
Gerodermia osteodysplastica term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gorab golgin, RAB6-interacting GBrowse link ISS 13 79,103,916 79,120,536 RGD:7240710 OMIM
Ghosal Hematodiaphyseal Dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tbxas1 thromboxane A synthase 1, platelet GBrowse link ISS 4 66,502,253 66,677,538 RGD:7240710 OMIM
Gigantism term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
S WIC-Tg(Wap-GH1)1Mni TAS RGD:1302502 RGD
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gli3 GLI family zinc finger 3 GBrowse link ISS 17 57,594,102 57,867,710 RGD:7240710 OMIM
GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Stat5b signal transducer and activator of transcription 5B GBrowse link ISS 10 89,716,624 89,743,134 RGD:7240710 OMIM
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fto fat mass and obesity associated GBrowse link ISS 19 16,514,746 16,858,800 RGD:7240710 OMIM
Hallermann's Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gja1 gap junction protein, alpha 1 GBrowse link ISS 20 35,409,815 35,422,262 RGD:7240710 OMIM
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lbr lamin B receptor GBrowse link ISS 13 97,814,439 97,834,860 RGD:7240710 OMIM
HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lrp5 low density lipoprotein receptor-related protein 5 GBrowse link ISS 1 206,102,750 206,206,350 RGD:7240710 OMIM
Hyperostosis, Cortical, Congenital term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col1a1 collagen, type I, alpha 1 GBrowse link ISS 10 83,622,438 83,639,368 RGD:5688296 RGD
G Col1a1 collagen, type I, alpha 1 GBrowse link ISS 10 83,622,438 83,639,368 RGD:7240710 OMIM
G Sost sclerostin GBrowse link ISS 10 91,023,712 91,026,759 RGD:68858 RGD
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V GBrowse link ISS 5 151,404,858 151,416,748 RGD:7240710 OMIM
Hypochondroplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:7240710 OMIM
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Btk Bruton agammaglobulinemia tyrosine kinase GBrowse link ISS X 121,998,935 122,030,289 RGD:7240710 OMIM
Hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tbce tubulin folding cofactor E GBrowse link ISS 17 59,485,451 59,533,041 RGD:7240710 OMIM
Hypothyroidism, Congenital, Nongoitrous, 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pax8 paired box 8 GBrowse link ISS 3 2,671,478 2,726,801 RGD:7240710 OMIM
Hypothyroidism, Congenital, Nongoitrous, 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tshb thyroid stimulating hormone, beta GBrowse link ISS 2 197,908,308 197,913,186 RGD:7240710 OMIM
Hypothyroidism, Congenital, Nongoitrous, 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Nkx2-5 NK2 homeobox 5 GBrowse link ISS 10 16,606,183 16,608,952 RGD:7240710 OMIM
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cdkn1c cyclin-dependent kinase inhibitor 1C GBrowse link ISS 1 203,835,215 203,837,844 RGD:7240710 OMIM
Ischiopatellar dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tbx4 T-box 4 GBrowse link ISS 10 74,136,416 74,166,080 RGD:7240710 OMIM
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gh1 growth hormone 1 GBrowse link ISS 10 95,692,240 95,694,117 RGD:7240710 OMIM
Isolated Growth Hormone Deficiency, Type IB term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gh1 growth hormone 1 GBrowse link ISS 10 95,692,240 95,694,117 RGD:7240710 OMIM
G Ghrhr growth hormone releasing hormone receptor GBrowse link ISS 4 84,135,530 84,148,503 RGD:7240710 OMIM
Isolated Growth Hormone Deficiency, Type II term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gh1 growth hormone 1 GBrowse link ISS 10 95,692,240 95,694,117 RGD:7240710 OMIM
Jackson-Weiss syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr1 Fibroblast growth factor receptor 1 GBrowse link ISS 16 70,869,974 70,910,045 RGD:7240710 OMIM
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
Kenny-Caffey syndrome, Type 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tbce tubulin folding cofactor E GBrowse link ISS 17 59,485,451 59,533,041 RGD:7240710 OMIM
Keratosis palmoplantaris with periodontopathia and onychogryposis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ctsc cathepsin C GBrowse link ISS 1 144,629,802 144,661,183 RGD:7240710 OMIM
Klippel Feil syndrome dominant type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gdf6 growth differentiation factor 6 GBrowse link ISS 5 23,739,175 23,756,140 RGD:7240710 OMIM
Klippel Feil syndrome recessive type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Meox1 mesenchyme homeobox 1 GBrowse link ISS 10 90,921,589 90,942,298 RGD:7240710 OMIM
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gdf3 growth differentiation factor 3 GBrowse link ISS 4 159,064,054 159,067,854 RGD:7240710 OMIM
Kniest dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col2a1 collagen, type II, alpha 1 GBrowse link ISS 7 136,679,219 136,707,976 RGD:7240710 OMIM
Kowarski syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gh1 growth hormone 1 GBrowse link ISS 10 95,692,240 95,694,117 RGD:7240710 OMIM
Lacrimoauriculodentodigital syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgf10 fibroblast growth factor 10 GBrowse link ISS 2 50,866,799 50,940,319 RGD:7240710 OMIM
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:7240710 OMIM
Laron Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ghr growth hormone receptor GBrowse link ISS 2 52,496,517 52,658,066 RGD:7240710 OMIM
Larsen syndrome, dominant type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Flnb filamin B, beta GBrowse link ISS 15 18,949,027 19,082,504 RGD:7240710 OMIM
G Sct secretin GBrowse link ISS 1 201,472,250 201,472,944 RGD:7240710 OMIM
Lujan Fryns syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Med12 mediator complex subunit 12 GBrowse link ISS X 89,351,546 89,374,489 RGD:7240710 OMIM
Mandibuloacral dysplasia with type A lipodystrophy term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lmna lamin A/C GBrowse link ISS 2 180,595,724 180,616,354 RGD:7240710 OMIM
Mandibulofacial Dysostosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acpp acid phosphatase, prostate GBrowse link ISS 8 109,354,381 109,400,296 RGD:1300346 RGD
G Edn1 endothelin 1 GBrowse link ISS 17 28,303,886 28,309,775 RGD:734913 RGD
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:704404 RGD
G Tcof1 Treacher Collins-Franceschetti syndrome 1 GBrowse link ISS 18 56,766,742 56,800,908 RGD:1599379 RGD
G Tcof1 Treacher Collins-Franceschetti syndrome 1 GBrowse link ISS 18 56,766,742 56,800,908 RGD:7240710 OMIM
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Polr1c polymerase (RNA) I polypeptide C GBrowse link ISS 9 10,298,309 10,302,421 RGD:7240710 OMIM
Marfan Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fbn1 fibrillin 1 GBrowse link ISS 3 112,608,480 112,804,118 RGD:1580378 RGD
G Fbn1 fibrillin 1 GBrowse link ISS 3 112,608,480 112,804,118 RGD:1300361 RGD
G Fbn1 fibrillin 1 GBrowse link ISS 3 112,608,480 112,804,118 RGD:7240710 OMIM
G Fbn2 fibrillin 2 GBrowse link ISS 18 53,883,011 53,914,001 RGD:1300364 RGD
G Lamb1 laminin, beta 1 GBrowse link ISS 6 49,115,671 49,183,374 RGD:7240710 OMIM
G Mmp12 matrix metallopeptidase 12 GBrowse link Spontaneous ISS 8 4,249,938 4,259,675 RGD:1582351 RGD
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) GBrowse link ISS 15 32,493,852 32,503,077 RGD:1582351 RGD
G Tgfbr1 transforming growth factor, beta receptor 1 GBrowse link ISS 5 63,976,868 64,034,058 RGD:2299005 RGD
G Tgfbr2 transforming growth factor, beta receptor II GBrowse link Susceptibility ISS 8 120,593,595 120,680,453 RGD:1579928 RGD
G Tgfbr2 transforming growth factor, beta receptor II GBrowse link ISS 8 120,593,595 120,680,453 RGD:2299005 RGD
Marshall syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col11a1 collagen, type XI, alpha 1 GBrowse link ISS 2 209,996,467 210,193,379 RGD:7240710 OMIM
Melorheostosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lemd3 LEM domain containing 3 GBrowse link ISS 7 60,232,118 60,281,459 RGD:7240710 OMIM
Metachondromatosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 GBrowse link ISS 12 36,501,886 36,558,055 RGD:7240710 OMIM
Metaphyseal Anadysplasia 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mmp9 matrix metallopeptidase 9 GBrowse link ISS 3 155,985,473 155,993,433 RGD:7240710 OMIM
Metaphyseal chondrodysplasia Schmid type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col10a1 collagen, type X, alpha 1 GBrowse link ISS 20 38,725,164 38,731,513 RGD:7240710 OMIM
Metaphyseal Dysplasia without Hypotrichosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rmrp RNA component of mitochondrial RNA processing endoribonuclease GBrowse link ISS 15 26,789,869 26,790,125 RGD:7240710 OMIM
Metatropic dwarfism term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 GBrowse link ISS 12 43,226,933 43,265,889 RGD:7240710 OMIM
Microcephalic Osteodysplastic Primordial Dwarfism, Type II term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pcnt pericentrin GBrowse link ISS 20 12,608,650 12,694,390 RGD:7240710 OMIM
Muenke Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:7240710 OMIM
Mulibrey Nanism term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Trim37 tripartite motif-containing 37 GBrowse link ISS 10 75,404,911 75,537,072 RGD:7240710 OMIM
Multiple synostoses syndrome 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Nog noggin GBrowse link ISS 10 77,689,244 77,690,871 RGD:7240710 OMIM
Multiple synostoses syndrome 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gdf5 growth differentiation factor 5 ISS RGD:7240710 OMIM
Multiple Synostoses Syndrome 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgf9 fibroblast growth factor 9 GBrowse link ISS 15 37,115,068 37,155,652 RGD:7240710 OMIM
Oculodentodigital Dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gja1 gap junction protein, alpha 1 GBrowse link ISS 20 35,409,815 35,422,262 RGD:7240710 OMIM
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gja1 gap junction protein, alpha 1 GBrowse link ISS 20 35,409,815 35,422,262 RGD:7240710 OMIM
Opitz GBBB Syndrome, X-Linked term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mid1 midline 1 (Opitz/BBB syndrome) GBrowse link ISS X 44,751,950 44,879,999 RGD:7240710 OMIM
Orofaciodigital syndrome type1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ofd1 oral-facial-digital syndrome 1 GBrowse link ISS X 48,701,675 48,742,443 RGD:7240710 OMIM
Orofaciodigital Syndromes term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ofd1 oral-facial-digital syndrome 1 GBrowse link ISS X 48,701,675 48,742,443 RGD:7240710 OMIM
Osteoarthritis with Mild Chondrodysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col2a1 collagen, type II, alpha 1 GBrowse link ISS 7 136,679,219 136,707,976 RGD:7240710 OMIM
Osteochondrodysplasias term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bmpr1b bone morphogenetic protein receptor, type IB GBrowse link ISS 2 239,727,569 239,767,802 RGD:1600593 RGD
G Chst3 carbohydrate (chondroitin 6) sulfotransferase 3 GBrowse link ISS 20 27,480,448 27,482,990 RGD:1600853 RGD
G Col10a1 collagen, type X, alpha 1 GBrowse link Susceptibility ISS 20 38,725,164 38,731,513 RGD:1600880 RGD
G Col11a2 collagen, type XI, alpha 2 GBrowse link Susceptibility ISS 20 4,924,452 4,953,310 RGD:1600883 RGD
G Col2a1 collagen, type II, alpha 1 GBrowse link ISS 7 136,679,219 136,707,976 RGD:704404 RGD
G Col2a1 collagen, type II, alpha 1 GBrowse link ISS 7 136,679,219 136,707,976 RGD:7240710 OMIM
G Col9a1 collagen, type IX, alpha 1 GBrowse link Susceptibility ISS 9 22,907,157 22,990,836 RGD:1600949 RGD
G Col9a1 collagen, type IX, alpha 1 GBrowse link ISS 9 22,907,157 22,990,836 RGD:7240710 OMIM
G Col9a2 collagen, type IX, alpha 2 GBrowse link Susceptibility ISS 5 141,623,365 141,640,224 RGD:1600952 RGD
G Col9a3 collagen, type IX, alpha 3 GBrowse link ISS 3 169,704,893 169,712,492 RGD:1600695 RGD
G Comp cartilage oligomeric matrix protein ISS RGD:1600702 RGD
G Comp cartilage oligomeric matrix protein ISS RGD:1600705 RGD
G Dym dymeclin GBrowse link ISS 18 71,889,053 72,188,251 RGD:1598787 RGD
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 GBrowse link ISS 4 104,016,940 104,078,261 RGD:734923 RGD
G Flna filamin A, alpha GBrowse link ISS X 160,362,334 160,385,626 RGD:1598954 RGD
G Flna filamin A, alpha GBrowse link ISS X 160,362,334 160,385,626 RGD:7240710 OMIM
G Flnb filamin B, beta GBrowse link ISS 15 18,949,027 19,082,504 RGD:1601168 RGD
G Hapln1 hyaluronan and proteoglycan link protein 1 GBrowse link ISS 2 19,576,064 19,638,106 RGD:734826 RGD
G Hspg2 heparan sulfate proteoglycan 2 ISS RGD:7240710 OMIM
G Hspg2 heparan sulfate proteoglycan 2 Susceptibility ISS RGD:1624267 RGD
G Lifr leukemia inhibitory factor receptor alpha GBrowse link ISS 2 56,426,058 56,477,198 RGD:1600614 RGD
G Matn3 matrilin 3 GBrowse link ISS 6 32,439,372 32,459,031 RGD:1599920 RGD
G Matn3 matrilin 3 GBrowse link ISS 6 32,439,372 32,459,031 RGD:1599919 RGD
G Pth1r parathyroid hormone 1 receptor GBrowse link Susceptibility ISS 8 115,099,763 115,119,362 RGD:1599978 RGD
G Slc26a2 solute carrier family 26 (sulfate transporter), member 2 GBrowse link IAGP 18 57,170,814 57,184,489 RGD:1600010 RGD
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 GBrowse link ISS 9 71,780,870 71,827,780 RGD:1599053 RGD
G Sost sclerostin GBrowse link ISS 10 91,023,712 91,026,759 RGD:7240710 OMIM
G Tgfb1 transforming growth factor, beta 1 GBrowse link Susceptibility ISS 1 80,894,705 80,911,020 RGD:1601550 RGD
G Tgfb2 transforming growth factor, beta 2 GBrowse link IEP 13 102,718,703 102,818,768 RGD:2302024 RGD
G Tgfbr1 transforming growth factor, beta receptor 1 GBrowse link IPM 5 63,976,868 64,034,058 RGD:2302024 RGD
G Trps1 trichorhinophalangeal syndrome I GBrowse link ISS 7 86,855,378 87,076,668 RGD:1599670 RGD
Osteogenesis Imperfecta term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col1a1 collagen, type I, alpha 1 GBrowse link ISS 10 83,622,438 83,639,368 RGD:734802 RGD
G Col1a1 collagen, type I, alpha 1 GBrowse link ISS 10 83,622,438 83,639,368 RGD:7240710 OMIM
G Col1a2 collagen, type I, alpha 2 GBrowse link ISS 4 29,393,645 29,428,572 RGD:1581197 RGD
G Col1a2 collagen, type I, alpha 2 GBrowse link ISS 4 29,393,645 29,428,572 RGD:704404 RGD
Osteogenesis imperfecta, type 2A term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col1a1 collagen, type I, alpha 1 GBrowse link ISS 10 83,622,438 83,639,368 RGD:7240710 OMIM
G Col1a2 collagen, type I, alpha 2 GBrowse link ISS 4 29,393,645 29,428,572 RGD:7240710 OMIM
Osteogenesis imperfecta, type 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col1a1 collagen, type I, alpha 1 GBrowse link ISS 10 83,622,438 83,639,368 RGD:7240710 OMIM
G Col1a2 collagen, type I, alpha 2 GBrowse link ISS 4 29,393,645 29,428,572 RGD:7240710 OMIM
Osteogenesis imperfecta, type 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col1a1 collagen, type I, alpha 1 GBrowse link ISS 10 83,622,438 83,639,368 RGD:7240710 OMIM
G Col1a2 collagen, type I, alpha 2 GBrowse link ISS 4 29,393,645 29,428,572 RGD:7240710 OMIM
Osteogenesis imperfecta, type 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ifitm5 interferon induced transmembrane protein 5 GBrowse link ISS 1 201,128,654 201,129,995 RGD:7240710 OMIM
Osteogenesis imperfecta, type 7 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Crtap cartilage associated protein GBrowse link ISS 8 118,765,925 118,773,673 RGD:7240710 OMIM
Osteogenesis Imperfecta, Type IX term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ppib peptidylprolyl isomerase B GBrowse link ISS 8 70,343,463 70,349,320 RGD:7240710 OMIM
Osteogenesis imperfecta, type VIII term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lepre1 leucine proline-enriched proteoglycan (leprecan) 1 GBrowse link ISS 5 139,816,323 139,831,409 RGD:7240710 OMIM
Osteoglophonic dwarfism term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr1 Fibroblast growth factor receptor 1 GBrowse link ISS 16 70,869,974 70,910,045 RGD:7240710 OMIM
Osteopetrosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ca2 carbonic anhydrase 2 GBrowse link Susceptibility ISS 2 88,077,095 88,092,223 RGD:1600698 RGD
G Clcn7 chloride channel, voltage-sensitive 7 GBrowse link ISS 10 14,379,803 14,403,898 RGD:737783 RGD
G Clcn7 chloride channel, voltage-sensitive 7 GBrowse link ISS 10 14,379,803 14,403,898 RGD:704404 RGD
G Clcn7 chloride channel, voltage-sensitive 7 GBrowse link ISS 10 14,379,803 14,403,898 RGD:7240710 OMIM
G Csf1 colony stimulating factor 1 (macrophage) GBrowse link IAGP 2 203,292,765 203,307,968 RGD:628338 RGD
G Ctsk cathepsin K GBrowse link ISS 2 190,394,854 190,405,668 RGD:734856 RGD
G Fos FBJ osteosarcoma oncogene GBrowse link ISS 6 109,559,135 109,562,001 RGD:704404 RGD
G Fosl1 fos-like antigen 1 GBrowse link ISS 1 208,090,612 208,099,118 RGD:737712 RGD
G Ghr growth hormone receptor GBrowse link IEP 2 52,496,517 52,658,066 RGD:2307374 RGD
G Jun jun proto-oncogene GBrowse link ISS 5 115,358,166 115,361,259 RGD:1549450 RGD
G Tcirg1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 GBrowse link ISS 1 206,420,106 206,429,495 RGD:1599350 RGD
Q Bss98 Bone structure and strength QTL 98 GBrowse link IAGP 15 1,007,318 16,365,960 RGD:5684953 RGD
Q Bss99 Bone structure and strength QTL 99 IAGP RGD:5684953 RGD
S LEW-tl.BN-(D2Arb16-D2Wox8) GBrowse link TAS 2 198,312,439 212,776,982 RGD:1004 RGD
S LEW-tl.BN-(D2Arb16-D2Wox8) GBrowse link TAS 2 198,312,439 212,776,982 RGD:619693 RGD
Osteopetrosis autosomal dominant type 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lrp5 low density lipoprotein receptor-related protein 5 GBrowse link ISS 1 206,102,750 206,206,350 RGD:7240710 OMIM
Osteopetrosis with renal tubular acidosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ca2 carbonic anhydrase 2 GBrowse link ISS 2 88,077,095 88,092,223 RGD:7240710 OMIM
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Clcn7 chloride channel, voltage-sensitive 7 GBrowse link ISS 10 14,379,803 14,403,898 RGD:7240710 OMIM
Osteopetrosis, Autosomal Recessive 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tcirg1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 GBrowse link ISS 1 206,420,106 206,429,495 RGD:7240710 OMIM
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 GBrowse link ISS 15 59,397,837 59,428,014 RGD:7240710 OMIM
Osteopetrosis, Autosomal Recessive 6 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Plekhm1 pleckstrin homology domain containing, family M (with RUN domain) member 1 GBrowse link ISS 10 92,555,565 92,603,324 RGD:7240710 OMIM
Osteopetrosis, Autosomal Recessive 7 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator GBrowse link ISS 13 11,958,002 12,014,371 RGD:7240710 OMIM
Osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lrp5 low density lipoprotein receptor-related protein 5 GBrowse link ISS 1 206,102,750 206,206,350 RGD:7240710 OMIM
Oto-Palato-digital syndrome type 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Flna filamin A, alpha GBrowse link ISS X 160,362,334 160,385,626 RGD:7240710 OMIM
Oto-palato-digital syndrome, type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Flna filamin A, alpha GBrowse link ISS X 160,362,334 160,385,626 RGD:7240710 OMIM
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col11a2 collagen, type XI, alpha 2 GBrowse link ISS 20 4,924,452 4,953,310 RGD:7240710 OMIM
G Col2a1 collagen, type II, alpha 1 GBrowse link ISS 7 136,679,219 136,707,976 RGD:7240710 OMIM
Parastremmatic dwarfism term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 GBrowse link ISS 12 43,226,933 43,265,889 RGD:7240710 OMIM
Parietal Foramina With Cleidocranial Dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Msx2 msh homeobox 2 GBrowse link ISS 17 17,243,262 17,248,927 RGD:7240710 OMIM
Pfeiffer type acrocephalosyndactyly term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr1 Fibroblast growth factor receptor 1 GBrowse link ISS 16 70,869,974 70,910,045 RGD:7240710 OMIM
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
Pierre Robin syndrome with fetal chondrodysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col11a2 collagen, type XI, alpha 2 GBrowse link ISS 20 4,924,452 4,953,310 RGD:7240710 OMIM
Pituitary Hormone Deficiency, Combined, 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Prop1 PROP paired-like homeobox 1 GBrowse link ISS 10 36,527,112 36,529,573 RGD:7240710 OMIM
Pituitary Hormone Deficiency, Combined, 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lhx4 LIM homeobox 4 GBrowse link ISS 13 70,669,765 70,718,978 RGD:7240710 OMIM
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col2a1 collagen, type II, alpha 1 GBrowse link ISS 7 136,679,219 136,707,976 RGD:7240710 OMIM
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Trem2 triggering receptor expressed on myeloid cells 2 GBrowse link ISS 9 8,059,023 8,065,585 RGD:7240710 OMIM
G Tyrobp Tyro protein tyrosine kinase binding protein GBrowse link ISS 1 85,365,371 85,369,224 RGD:7240710 OMIM
POLYDACTYLY, PREAXIAL II term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lmbr1 limb region 1 homolog (mouse) GBrowse link ISS 4 1,177,941 1,344,583 RGD:7240710 OMIM
Popliteal Pterygium Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Irf6 interferon regulatory factor 6 GBrowse link ISS 13 108,986,973 109,006,180 RGD:7240710 OMIM
Proteus Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Akt1 v-akt murine thymoma viral oncogene homolog 1 GBrowse link ISS 6 137,640,482 137,657,552 RGD:5509063 RGD
G Akt1 v-akt murine thymoma viral oncogene homolog 1 GBrowse link ISS 6 137,640,482 137,657,552 RGD:7240710 OMIM
Pseudoachondroplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Comp cartilage oligomeric matrix protein ISS RGD:7240710 OMIM
PSEUDOHYPOPARATHYROIDISM, TYPE IA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gnas GNAS complex locus GBrowse link ISS 3 165,213,399 165,214,551 RGD:7240710 OMIM
Pycnodysostosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ctsk cathepsin K GBrowse link ISS 2 190,394,854 190,405,668 RGD:7240710 OMIM
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hoxa11 homeobox A11 GBrowse link ISS 4 80,542,417 80,546,079 RGD:7240710 OMIM
Raine syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fam20c family with sequence similarity 20, member C GBrowse link ISS 12 16,340,407 16,399,325 RGD:7240710 OMIM
Rapadilino syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Recql4 RecQ protein-like 4 GBrowse link ISS 7 114,752,863 114,760,027 RGD:7240710 OMIM
Rhizomelic chondrodysplasia punctata, type 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pex7 peroxisomal biogenesis factor 7 GBrowse link ISS 1 15,099,265 15,163,734 RGD:7240710 OMIM
Rhizomelic chondrodysplasia punctata, type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gnpat glyceronephosphate O-acyltransferase GBrowse link ISS 19 55,033,777 55,059,491 RGD:7240710 OMIM
Rhizomelic chondrodysplasia punctata, type 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Agps alkylglycerone phosphate synthase ISS RGD:7240710 OMIM
Roberts Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Esco2 establishment of cohesion 1 homolog 2 (S. cerevisiae) GBrowse link ISS 15 45,239,871 45,254,898 RGD:7240710 OMIM
Rubinstein-Taybi Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Crebbp CREB binding protein GBrowse link ISS 10 11,598,680 11,724,122 RGD:734820 RGD
G Crebbp CREB binding protein GBrowse link ISS 10 11,598,680 11,724,122 RGD:7240710 OMIM
G Ep300 E1A binding protein p300 GBrowse link ISS 7 119,938,507 120,008,886 RGD:1580966 RGD
G Ep300 E1A binding protein p300 GBrowse link ISS 7 119,938,507 120,008,886 RGD:7240710 OMIM
Scaphocephaly, Maxillary Retrusion, And Mental Retardation term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
Schimke immunoosseous dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 GBrowse link ISS 9 71,780,870 71,827,780 RGD:7240710 OMIM
Schneckenbecken dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc35d1 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 GBrowse link ISS 5 124,107,948 124,154,018 RGD:7240710 OMIM
Sclerosteosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Sost sclerostin GBrowse link ISS 10 91,023,712 91,026,759 RGD:7240710 OMIM
Seckel syndrome 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Atr ataxia telangiectasia and Rad3 related GBrowse link ISS 8 100,936,342 101,014,881 RGD:7240710 OMIM
Seckel syndrome 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rbbp8 retinoblastoma binding protein 8 GBrowse link ISS 18 3,266,565 3,333,153 RGD:7240710 OMIM
SECKEL SYNDROME 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cenpj centromere protein J GBrowse link ISS 15 35,487,198 35,550,034 RGD:7240710 OMIM
Short Rib-Polydactyly Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 GBrowse link ISS 8 3,826,843 4,072,644 RGD:7240710 OMIM
G Nek1 NIMA-related kinase 1 GBrowse link ISS 16 32,317,987 32,438,010 RGD:7240710 OMIM
Short rib-polydactyly syndrome, Verma-Naumoff type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 GBrowse link ISS 8 3,826,843 4,072,644 RGD:7240710 OMIM
Short Stature, Idiopathic, Autosomal term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ghr growth hormone receptor GBrowse link ISS 2 52,496,517 52,658,066 RGD:7240710 OMIM
G Ghsr growth hormone secretagogue receptor GBrowse link ISS 2 113,269,623 113,272,999 RGD:7240710 OMIM
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gpc3 glypican 3 GBrowse link ISS X 139,192,115 139,560,649 RGD:7240710 OMIM
Skeletal Defects, Genital Hypoplasia, And Mental Retardation term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Zbtb16 zinc finger and BTB domain containing 16 GBrowse link ISS 8 51,931,530 52,094,813 RGD:7240710 OMIM
Smith-McCort Dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dym dymeclin GBrowse link ISS 18 71,889,053 72,188,251 RGD:7240710 OMIM
Spondylocarpotarsal synostosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Flnb filamin B, beta GBrowse link ISS 15 18,949,027 19,082,504 RGD:7240710 OMIM
G Sct secretin GBrowse link ISS 1 201,472,250 201,472,944 RGD:7240710 OMIM
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc39a13 solute carrier family 39 (zinc transporter), member 13 GBrowse link ISS 3 75,421,153 75,429,058 RGD:7240710 OMIM
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dll3 delta-like 3 (Drosophila) GBrowse link ISS 1 83,373,482 83,381,219 RGD:7240710 OMIM
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mesp2 mesoderm posterior 2 homolog (mouse) GBrowse link ISS 1 135,590,020 135,592,626 RGD:7240710 OMIM
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase GBrowse link ISS 12 14,497,704 14,505,723 RGD:7240710 OMIM
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hes7 hairy and enhancer of split 7 (Drosophila) GBrowse link ISS 10 55,879,891 55,882,414 RGD:7240710 OMIM
Spondyloepimetaphyseal Dysplasia, Aggrecan Type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acan aggrecan GBrowse link ISS 1 134,787,341 134,848,992 RGD:7240710 OMIM
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Matn3 matrilin 3 GBrowse link ISS 6 32,439,372 32,459,031 RGD:7240710 OMIM
Spondyloepimetaphyseal Dysplasia, Missouri Type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mmp13 matrix metallopeptidase 13 GBrowse link ISS 8 4,158,887 4,169,166 RGD:7240710 OMIM
Spondyloepimetaphyseal Dysplasia, Pakistani Type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 GBrowse link ISS 1 236,592,414 236,677,379 RGD:7240710 OMIM
Spondyloepiphyseal Dysplasia Tarda, X-Linked term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Trappc2 trafficking protein particle complex 2 GBrowse link ISS X 48,690,381 48,701,588 RGD:7240710 OMIM
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Chst3 carbohydrate (chondroitin 6) sulfotransferase 3 GBrowse link ISS 20 27,480,448 27,482,990 RGD:7240710 OMIM
Spondyloepiphyseal dysplasia, congenita term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col2a1 collagen, type II, alpha 1 GBrowse link ISS 7 136,679,219 136,707,976 RGD:7240710 OMIM
Spondyloepiphyseal Dysplasia, Kimberley Type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acan aggrecan GBrowse link ISS 1 134,787,341 134,848,992 RGD:7240710 OMIM
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 GBrowse link ISS 12 43,226,933 43,265,889 RGD:7240710 OMIM
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ddr2 discoidin domain receptor tyrosine kinase 2 GBrowse link ISS 13 85,801,449 85,846,636 RGD:7240710 OMIM
G Tkt transketolase GBrowse link ISS 16 5,908,759 5,933,695 RGD:7240710 OMIM
Spondylometaphyseal dysplasia, Kozlowski type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 GBrowse link ISS 12 43,226,933 43,265,889 RGD:7240710 OMIM
SPONDYLOPERIPHERAL DYSPLASIA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col2a1 collagen, type II, alpha 1 GBrowse link ISS 7 136,679,219 136,707,976 RGD:7240710 OMIM
Stapes Ankylosis With Broad Thumb And Toes term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Nog noggin GBrowse link ISS 10 77,689,244 77,690,871 RGD:7240710 OMIM
Strudwick syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Col2a1 collagen, type II, alpha 1 GBrowse link ISS 7 136,679,219 136,707,976 RGD:7240710 OMIM
Stuve-Wiedemann syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lifr leukemia inhibitory factor receptor alpha GBrowse link ISS 2 56,426,058 56,477,198 RGD:7240710 OMIM
Syndactyly term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fbn2 fibrillin 2 GBrowse link ISS 18 53,883,011 53,914,001 RGD:1300320 RGD
G Hoxd13 homeo box D13 GBrowse link ISS 3 57,283,682 57,286,998 RGD:1599534 RGD
G Irf6 interferon regulatory factor 6 GBrowse link ISS 13 108,986,973 109,006,180 RGD:1600214 RGD
Syndactyly Cenani Lenz type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lrp4 low density lipoprotein receptor-related protein 4 GBrowse link ISS 3 75,821,638 75,875,100 RGD:7240710 OMIM
Syndactyly, type 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gja1 gap junction protein, alpha 1 GBrowse link ISS 20 35,409,815 35,422,262 RGD:7240710 OMIM
Syndactyly, Type IV term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lmbr1 limb region 1 homolog (mouse) GBrowse link ISS 4 1,177,941 1,344,583 RGD:7240710 OMIM
Syndactyly, type v term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hoxd13 homeo box D13 GBrowse link ISS 3 57,283,682 57,286,998 RGD:7240710 OMIM
Synostosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Nog noggin GBrowse link ISS 10 77,689,244 77,690,871 RGD:1600234 RGD
Synpolydactyly 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hoxd13 homeo box D13 GBrowse link ISS 3 57,283,682 57,286,998 RGD:7240710 OMIM
Tarsal carpal coalition syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Nog noggin GBrowse link ISS 10 77,689,244 77,690,871 RGD:7240710 OMIM
Thanatophoric Dysplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:2289863 RGD
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:7240710 OMIM
Thanatophoric dysplasia, type 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:7240710 OMIM
Thanatophoric dysplasia, type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:7240710 OMIM
THREE M SYNDROME 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cul7 cullin 7 GBrowse link ISS 9 10,020,543 10,034,167 RGD:7240710 OMIM
Three M Syndrome 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Obsl1 obscurin-like 1 GBrowse link ISS 9 74,761,815 74,780,292 RGD:7240710 OMIM
Thyroid Dyshormonogenesis 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc5a5 solute carrier family 5 (sodium iodide symporter), member 5 GBrowse link ISS 16 19,046,200 19,056,281 RGD:7240710 OMIM
Thyroid Dyshormonogenesis 2A term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tpo thyroid peroxidase GBrowse link ISS 6 47,954,848 48,025,740 RGD:7240710 OMIM
Thyroid Dyshormonogenesis 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Iyd iodotyrosine deiodinase GBrowse link ISS 1 34,244,640 34,259,649 RGD:7240710 OMIM
Thyroid Dyshormonogenesis 6 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Duox2 dual oxidase 2 GBrowse link ISS 3 109,059,360 109,077,106 RGD:7240710 OMIM
Timothy syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit GBrowse link ISS 4 154,895,691 155,517,389 RGD:1580173 RGD
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit GBrowse link ISS 4 154,895,691 155,517,389 RGD:7240710 OMIM
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Star steroidogenic acute regulatory protein GBrowse link ISS 16 70,642,580 70,647,203 RGD:7240710 OMIM
TORG-WINCHESTER SYNDROME term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mmp2 matrix metallopeptidase 2 GBrowse link ISS 19 15,246,036 15,275,061 RGD:7240710 OMIM
TRICHORHINOPHALANGEAL SYNDROME, TYPE I term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Trps1 trichorhinophalangeal syndrome I GBrowse link ISS 7 86,855,378 87,076,668 RGD:7240710 OMIM
TRIGONOCEPHALY 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr1 Fibroblast growth factor receptor 1 GBrowse link ISS 16 70,869,974 70,910,045 RGD:7240710 OMIM
Tumoral Calcinosis, Hyperphosphatemic, Familial term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgf23 fibroblast growth factor 23 GBrowse link ISS 4 163,468,604 163,476,325 RGD:7240710 OMIM
G Galnt3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) GBrowse link ISS 3 48,026,128 48,049,883 RGD:7240710 OMIM
G Kl Klotho GBrowse link ISS 12 3,732,712 3,772,371 RGD:7240710 OMIM
Van Buchem disease type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lrp5 low density lipoprotein receptor-related protein 5 GBrowse link ISS 1 206,102,750 206,206,350 RGD:7240710 OMIM
Weaver syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ezh1 enhancer of zeste homolog 1 (Drosophila) GBrowse link ISS 10 90,211,249 90,237,563 RGD:7240710 OMIM
G Ezh2 enhancer of zeste homolog 2 (Drosophila) GBrowse link ISS 4 75,709,959 75,773,279 RGD:7240710 OMIM
G Nsd1 nuclear receptor binding SET domain protein 1 GBrowse link ISS 17 15,362,482 15,471,961 RGD:7240710 OMIM
Weill-Marchesani Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 GBrowse link ISS 7 16,043,150 16,059,666 RGD:7240710 OMIM
G Fbn1 fibrillin 1 GBrowse link ISS 3 112,608,480 112,804,118 RGD:7240710 OMIM
Weill-Marchesani-Like Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 GBrowse link ISS 1 121,324,404 121,491,594 RGD:7240710 OMIM
Winkelman Bethge Pfeiffer syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lhx3 LIM homeobox 3 GBrowse link ISS 3 4,381,890 4,389,132 RGD:7240710 OMIM
Wolcott-Rallison syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 GBrowse link ISS 4 104,016,940 104,078,261 RGD:7240710 OMIM
XFE Progeroid Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 GBrowse link ISS 10 2,144,262 2,177,554 RGD:7240710 OMIM
Zlotogora-Ogur syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pvrl1 poliovirus receptor-related 1 GBrowse link ISS 8 46,739,657 46,799,051 RGD:7240710 OMIM

Term paths to the root
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Term Annotations click to browse term
  Diseases 30477
    Musculoskeletal Diseases 1854
      Bone Diseases 755
        Bone Diseases, Developmental 390
          Acro-Osteolysis + 2
          Acrocapitofemoral Dysplasia 1
          Acromesomelic dysplasia, Maroteaux type 1
          Acromicric dysplasia + 1
          Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 0
          Angel shaped phalangoepiphyseal dysplasia 0
          Baby Rattle Pelvis Dysplasia 0
          Basal Cell Nevus Syndrome + 1
          Battaglia Neri syndrome 0
          Bazopoulou Kyrkanidou syndrome 0
          Bellini Chiumello Rimoldi syndrome 0
          Blount disease 0
          Bone Dysplasia, Lethal, Holmgren Type 0
          Brachioskeletogenital syndrome 0
          Brachymesomelia renal syndrome 0
          Brittle Bone Disorder 0
          CATSHL syndrome 1
          Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia 0
          Cervical Vertebral Dysplasia 0
          Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 0
          Craniolenticulosutural Dysplasia 1
          Deafness conductive ptosis skeletal anomalies 0
          Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 0
          Diaphyseal medullary stenosis with malignant fibrous histiocytoma 0
          Doughnut Lesions of Skull, Familial 0
          Dwarfism + 96
          Dysostoses + 93
          Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 0
          Dysplasia epiphysealis hemimelica 0
          Fountain syndrome 0
          Fryns Hofkens Fabry syndrome 0
          Funnel Chest + 0
          Gigantism + 2
          Gracile bone dysplasia 0
          Gurrieri Sammito Bellussi syndrome 0
          Hall Riggs mental retardation syndrome 0
          Ischiopatellar dysplasia 1
          KBG syndrome 0
          Kantaputra Gorlin syndrome 0
          Kozlowski Rafinski Klicharska syndrome 0
          Kozlowski Warren Fisher syndrome 0
          Kyphomelic dysplasia 0
          Larsen syndrome, recessive type 0
          Leg Length Inequality 0
          Lenz Majewski hyperostotic dwarfism 0
          Lissencephaly Type III and Bone Dysplasia 0
          Macroepiphyseal dysplasia, McAlister Coe type 0
          Marfan Syndrome + 11
          Marshall-Smith syndrome 0
          Membranous Cranial Ossification, Delayed 0
          Mesomelic Dysplasia, Camera Type 0
          Mesomelic Limb Shortening and Bowing 0
          Mononen Karnes Senac syndrome 0
          Osteochondrodysplasias + 192
          Osteofibrous Dysplasia 0
          Osteolysis, Essential + 0
          Osteosclerosis with ichthyosis and premature ovarian failure 0
          Patterson pseudoleprechaunism syndrome 0
          Platybasia + 0
          Pointer syndrome 0
          Prenatal Bowing 0
          Proteus Syndrome + 2
          Puerto Rican Infant Hypotonia Syndrome 0
          Radius absent anogenital anomalies 0
          Rhizomelic dysplasia Patterson Lowry type 0
          Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 0
          Rhizomelic syndrome 0
          Roifman-Chitayat Syndrome 0
          Santos Syndrome 0
          Schwartz-Lelek syndrome 0
          Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 0
          Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
          Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal 0
          Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification 0
          Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa 0
          Spondyloepimetaphyseal Dysplasia, Aggrecan Type 1
          Spranger Schinzel Myers syndrome 0
          Stoll Levy Francfort syndrome 0
          TERMINAL OSSEOUS DYSPLASIA 0
          TORG-WINCHESTER SYNDROME 1
          Trichoodontoonychial Dysplasia 0
          Ulna hypoplasia with mental retardation 0
          Vertebral body fusion overgrowth 0
          Weill-Marchesani Syndrome + 2
          Weismann Netter syndrome 0
          Wiedemann Oldigs Oppermann syndrome 0
paths to the root