ONTOLOGY REPORT - ANNOTATIONS

Term:Dysostoses
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Accession:RDO:0000732 term browser browse the term
Definition:Defective bone formation involving individual bones, singly or in combination.
Synonyms:exact_synonym: Dysostosis
 primary_id: MESH:D004413

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Dysostoses term browser
Symbol Object Name GBrowse 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
Acrocephalopolysyndactyly Type II term browser
Symbol Object Name GBrowse 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 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
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS term browser
Symbol Object Name GBrowse 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 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
Bohring syndrome term browser
Symbol Object Name GBrowse 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
Brachydactyly-Syndactyly Syndrome term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Hoxd13 homeo box D13 GBrowse link ISS 3 57,283,682 57,286,998 RGD:7240710 OMIM
C SYNDROME term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Cd96 CD96 molecule GBrowse link ISS 11 56,183,593 56,258,568 RGD:7240710 OMIM
Cranioectodermal Dysplasia term browser
Symbol Object Name GBrowse 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 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 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
Craniosynostoses term browser
Symbol Object Name GBrowse 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 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 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 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 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
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Por P450 (cytochrome) oxidoreductase GBrowse link ISS 12 22,078,629 22,097,301 RGD:7240710 OMIM
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 term browser
Symbol Object Name GBrowse 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
Focal Dermal Hypoplasia term browser
Symbol Object Name GBrowse 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 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
FRONTONASAL DYSPLASIA 1 term browser
Symbol Object Name GBrowse 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 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 Evidence Chr Start Stop Reference Source
G Alx1 ALX homeobox 1 GBrowse link ISS 7 41,090,481 41,110,281 RGD:7240710 OMIM
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name GBrowse 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
Hallermann's Syndrome term browser
Symbol Object Name GBrowse 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
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 term browser
Symbol Object Name GBrowse 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
Jackson-Weiss syndrome term browser
Symbol Object Name GBrowse 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
Klippel Feil syndrome dominant type term browser
Symbol Object Name GBrowse 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 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 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
Lacrimoauriculodentodigital syndrome term browser
Symbol Object Name GBrowse 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
Mandibulofacial Dysostosis term browser
Symbol Object Name GBrowse 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 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
Muenke Syndrome term browser
Symbol Object Name GBrowse 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
Multiple synostoses syndrome 1 term browser
Symbol Object Name GBrowse 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 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 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 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 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 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 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 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
Pfeiffer type acrocephalosyndactyly term browser
Symbol Object Name GBrowse 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
POLYDACTYLY, PREAXIAL II term browser
Symbol Object Name GBrowse 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 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
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Hoxa11 homeobox A11 GBrowse link ISS 4 80,542,417 80,546,079 RGD:7240710 OMIM
Roberts Syndrome term browser
Symbol Object Name GBrowse 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 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 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
Sclerosteosis term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Sost sclerostin GBrowse link ISS 10 91,023,712 91,026,759 RGD:7240710 OMIM
Spondylocarpotarsal synostosis term browser
Symbol Object Name GBrowse 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
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE term browser
Symbol Object Name GBrowse 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 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 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 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
Stapes Ankylosis With Broad Thumb And Toes term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Nog noggin GBrowse link ISS 10 77,689,244 77,690,871 RGD:7240710 OMIM
Syndactyly term browser
Symbol Object Name GBrowse 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 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 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 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 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 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 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 Evidence Chr Start Stop Reference Source
G Nog noggin GBrowse link ISS 10 77,689,244 77,690,871 RGD:7240710 OMIM
Timothy syndrome term browser
Symbol Object Name GBrowse 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 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
TRIGONOCEPHALY 1 term browser
Symbol Object Name GBrowse 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
Zlotogora-Ogur syndrome term browser
Symbol Object Name GBrowse 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
          Dysostoses 93
            Achard syndrome 0
            Acrodysostosis 0
            Camptodactyly joint contractures and facial skeletal dysplasia 0
            Cervical Vertebrae, Agenesis Of 0
            Craniofacial Dysostosis + 18
            Diaphanospondylodysostosis 0
            FRONTONASAL DYSPLASIA 1 1
            Focal Dermal Hypoplasia + 1
            Frontofacionasal Dysplasia 0
            Klippel-Feil Syndrome + 3
            Kozlowski Celermajer Tink syndrome 0
            Mandibulofacial Dysostosis Syndrome, Bauru Type 0
            Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
            Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 0
            Orofaciodigital Syndromes + 2
            Pelviscapular dysplasia + 0
            Rubinstein-Taybi Syndrome + 4
            SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT 0
            Spondylocostal Dysostosis 4, Autosomal Dominant 0
            Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 0
            Spondylocostal dysostosis, autosomal recessive + 4
            Spondylospinal Thoracic Dysostosis 0
            Synostosis + 61
            Thoracic Dysostosis, Isolated 0
            Thoracopelvic Dysostosis 0
paths to the root

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