ONTOLOGY REPORT - ANNOTATIONS

Term:Osteochondrodysplasias
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Accession:RDO:0000496 term browser browse the term
Definition:Abnormal development of cartilage and bone.
Synonyms:exact_synonym: CHONDRODYSTROPHIC MYOTONIA;   Chondrodystrophic Myotonias;   Dyschondroplasia;   Dyschondroplasias;   ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL RECESSIVE;   HYPERPHOSPHATASEMIA TARDA;   Hyperostosis Corticalis Generalisata;   Hyperphosphatasemia Tardas;   MNS;   MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES;   Melnick Needles Osteodysplasty;   Melnick Needles Syndrome;   Multiple Epiphyseal Dysplasia;   Multiple Epiphyseal Dysplasias;   Myotonic chondrodystrophies;   Myotonic chondrodystrophy;   Osteochondrodysplasia;   Osteodysplasty of Melnick and Needles;   SCHWARTZ-JAMPEL SYNDROME, TYPE 1;   SJA SYNDROME;   SJA Syndromes;   SJS;   SJS1;   Schwartz Jampel Aberfeld syndrome;   Schwartz Jampel Syndrome;   Spondylo-epimetaphyseal dysplasia with myotonia;   Spondyloepiphyseal Dysplasia;   Spondyloepiphyseal Dysplasias;   VAN BUCHEM DISEASE;   VBCH;   Van Buchem Diseases
 primary_id: MESH:D010009
 alt_id: OMIM:120140;   OMIM:120210;   OMIM:239100;   OMIM:255800;   OMIM:309350

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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Term paths to the root
Path 1
Term Annotations click to browse term
  Diseases 30711
    Musculoskeletal Diseases 1840
      Bone Diseases 755
        Bone Diseases, Developmental 390
          Osteochondrodysplasias 192
            ATELOSTEOGENESIS, TYPE III 2
            Achondroplasia + 13
            Acquired Hyperostosis Syndrome 0
            Acrodysostosis 0
            Acrodysplasia scoliosis 0
            Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia 0
            Acromesomelic dysplasia 0
            Acromesomelic dysplasia Campailla-Martinelli type 0
            Acromesomelic dysplasia Hunter-Thompson type 1
            Acropectorovertebral Dysplasia, F-Form 0
            Akaba Hayasaka syndrome 0
            Anauxetic dysplasia 1
            Atelosteogenesis type 2 1
            Atelosteogenesis, type 1 2
            Auriculoosteodysplasia 0
            Boomerang dysplasia 2
            Brachyolmia 0
            Brachyolmia Type 2 0
            Brachyolmia Type 3 1
            Brachyolmia, recessive Hobaek type 0
            CODAS syndrome 0
            Camurati-Engelmann Syndrome + 1
            Cantu syndrome 0
            Cartilage hair hypoplasia like syndrome 0
            Cartilage-hair hypoplasia 1
            Chondrodysplasia Calcificans Metaphysealis 0
            Chondrodysplasia Punctata + 11
            Chondrodysplasia, Grebe type 1
            Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 0
            Chondrodysplasia, Megarbane-Dagher-Melki Type 0
            Chondrodysplasia, blomstrand type 0
            Cleidocranial Dysplasia + 3
            Cleidorhizomelic syndrome 0
            Cloverleaf skull micromelia thoracic dysplasia 0
            Collagenopathy, type 2 alpha 1 0
            Coloboma of Alar-nasal cartilages with telecanthus 0
            Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 0
            Craniodiaphyseal Dysplasia 0
            Craniodiaphyseal Dysplasia, Autosomal Dominant 0
            Czech dysplasia, metatarsal type 0
            Dyggve-Melchior-Clausen syndrome 1
            Dyschondrosteosis and Nephritis 0
            Eiken Skeletal Dysplasia 0
            Ellis-Van Creveld Syndrome + 6
            Enchondromatosis 0
            Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 0
            Epiphyseal Dysplasia, Baumann Type 0
            Epiphyseal Dysplasia, Multiple, with Miniepiphyses 0
            Epiphyseal Dysplasia, Multiple, with Myopathy 0
            Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 1
            Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 0
            Epiphyseal dysplasia, multiple, 1 1
            Epiphyseal dysplasia, multiple, 2 1
            Epiphyseal dysplasia, multiple, 3 1
            Epiphyseal dysplasia, multiple, 4 1
            Epiphyseal dysplasia, multiple, 5 1
            Fairbank disease 1
            Faye-Petersen Ward Carey syndrome 0
            Fibrous Dysplasia of Bone + 6
            Fraser Jequier Chen syndrome 0
            Frontometaphyseal dysplasia 1
            Frontootopalatodigital Osteodysplasia 0
            Ghosal Hematodiaphyseal Dysplasia 1
            Greenberg dysplasia 0
            HEM dysplasia 0
            HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA 1
            HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS 1
            Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia 0
            Hip Dysplasia, Beukes Type 0
            Hyperostosis Frontalis Interna + 0
            Hyperostosis, Cortical, Congenital + 7
            Hypochondrogenesis 0
            Hypoparathyroidism-retardation-dysmorphism syndrome 1
            Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 1
            Jansen type metaphyseal chondrodysplasia 0
            Jequier Kozlowski skeletal dysplasia 0
            Kashin-Beck Disease 0
            Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 0
            Kozlowski Celermajer Tink syndrome 0
            Kozlowski Tsuruta Taki syndrome 0
            Langer mesomelic dysplasia 0
            Langer-Giedion Syndrome + 1
            Laplane Fontaine Lagardere syndrome 0
            Larsen syndrome, dominant type 2
            Larsen-Like Syndrome 0
            Leri-Weil syndrome 0
            Leukoencephalopathy With Metaphyseal Chondrodysplasia 0
            Lowry Wood syndrome 0
            Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 0
            Madelung Deformity 0
            Marshall syndrome 1
            Megaepiphyseal dwarfism 0
            Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 0
            Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 0
            Mesomelic Dysplasia, Savarirayan Type 0
            Mesomelic dwarfism Reinhardt Pfeiffer type 0
            Metaphyseal Anadysplasia 1 0
            Metaphyseal Anadysplasia 2 1
            Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 0
            Metaphyseal Chondrodysplasia, Kaitila Type 0
            Metaphyseal Chondrodysplasia, Pena Type 0
            Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 0
            Metaphyseal Dysplasia without Hypotrichosis 1
            Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 0
            Metaphyseal Dysplasia, Braun-Tinschert Type 0
            Metaphyseal anadysplasia 0
            Metaphyseal chondrodysplasia Schmid type 1
            Metaphyseal chondrodysplasia Spahr type 0
            Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands 0
            Metaphyseal undermodeling, spondylar dysplasia, and overgrowth 0
            Metatropic dwarfism 1
            Microcephalic Osteodysplastic Primordial Dwarfism, Type II 1
            Microcephalic osteodysplastic primordial dwarfism, type 1 0
            Microcephaly-Micromelia Syndrome 0
            Micromelic dwarfism Fryns type 0
            Micromelic dysplasia, congenital, with dislocation of radius 0
            Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 0
            Multiple Epiphyseal Dysplasia with Robin Phenotype 0
            Nance Sweeney chondrodysplasia + 2
            Nievergelt syndrome 0
            Nivelon Nivelon Mabille syndrome 0
            Omodysplasia 2 0
            Omodysplasia type 1 0
            Opsismodysplasia 0
            Osebold Skeletal Dysplasia Osteolysis Syndrome 0
            Osteoarthritis with Mild Chondrodysplasia 1
            Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
            Osteochondroma + 5
            Osteodysplasia, Familial, Anderson Type 0
            Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski 0
            Osteogenesis Imperfecta + 16
            Osteoglophonic dwarfism 1
            Osteosclerosis + 27
            Oto-Palato-digital syndrome type 1 1
            Oto-palato-digital syndrome, type 2 1
            Otopalatodigital Spectrum Disorder 0
            Pelvis-Shoulder Dysplasia 0
            Pierre Robin syndrome with fetal chondrodysplasia 1
            Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
            Polydysspondyly 0
            Pubic Bone Dysplasia 0
            Pycnodysostosis 1
            Pyle disease 0
            Roifman syndrome 0
            SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 1
            SPONDYLOPERIPHERAL DYSPLASIA 1
            Schaefer Stein Oshman syndrome 0
            Schimke immunoosseous dysplasia 1
            Schneckenbecken dysplasia 1
            Short Rib-Polydactyly Syndrome + 3
            Short stature syndrome, Brussels type 0
            Situs inversus totalis with cystic dysplasia of kidneys and pancreas 0
            Sketetal dysplasia coarse facies mental retardation 0
            Slipped Capital Femoral Epiphyses + 0
            Smith-McCort Dysplasia 1
            Spinal Dysplasia, Anhalt Type 0
            Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 0
            Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 1
            Spondylodysplasia And Premature Pubarche 0
            Spondyloenchondrodysplasia 0
            Spondyloepimetaphyseal Dysplasia With Abnormal Dentition 0
            Spondyloepimetaphyseal Dysplasia With Joint Laxity 0
            Spondyloepimetaphyseal Dysplasia, Irapa Type 0
            Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 1
            Spondyloepimetaphyseal Dysplasia, Missouri Type 1
            Spondyloepimetaphyseal Dysplasia, Pakistani Type 1
            Spondyloepimetaphyseal Dysplasia, Shohat Type 0
            Spondyloepimetaphyseal Dysplasia, X-Linked 0
            Spondyloepimetaphyseal dysplasia with hypotrichosis 0
            Spondyloepimetaphyseal dysplasia with multiple dislocations 0
            Spondyloepimetaphyseal dysplasia, Genevieve type 0
            Spondyloepimetaphyseal dysplasia, sponastrime type 0
            Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 0
            Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 0
            Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 0
            Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 0
            Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type 0
            Spondyloepiphyseal Dysplasia Tarda, X-Linked 1
            Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation 0
            Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy 0
            Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 0
            Spondyloepiphyseal Dysplasia, Kimberley Type 1
            Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness 0
            Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 0
            Spondyloepiphyseal dysplasia tarda, Toledo type 0
            Spondyloepiphyseal dysplasia, Omani type + 1
            Spondyloepiphyseal dysplasia, congenita 1
            Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness 0
            Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 2
            Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 0
            Spondylometaphyseal Dysplasia, Type A4 0
            Spondylometaphyseal Dysplasia, X-Linked 0
            Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism 0
            Spondylometaphyseal dysplasia with dentinogenesis imperfecta 0
            Spondylometaphyseal dysplasia, 'corner fracture' type 0
            Spondylometaphyseal dysplasia, Algerian type 0
            Spondylometaphyseal dysplasia, Kozlowski type 1
            Spondylometaphyseal dysplasia, Sedaghatian type 0
            Spondylometaphyseal dysplasia, axial 0
            Spondylometaphyseal dysplasia, east-African type 0
            Spondyloocular Syndrome, Autosomal Recessive 0
            Spondyloperipheral dysplasia short ulna 0
            Spondylospinal Thoracic Dysostosis 0
            Strudwick syndrome 1
            Stuve-Wiedemann syndrome 1
            Teebi Naguib Al Awadi syndrome 0
            Ter Haar syndrome 0
            Terminal Osseous Dysplasia and Pigmentary Defects 0
            Thoracolaryngopelvic dysplasia 0
            Tracheobronchopathia osteoplastica 0
            Trichoscyphodysplasia 0
            Ulna metaphyseal dysplasia syndrome 0
            Upington disease 0
            Verloes Bourguignon syndrome 0
            Verloes Van Maldergem Marneffe syndrome 0
            Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 0
            Wolcott-Rallison syndrome 1
paths to the root

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