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spondylometaphyseal dysplasia - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:spondylometaphyseal dysplasia
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Accession:DOID:0112295 term browser browse the term
Definition:An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. (DO)
Synonyms:exact_synonym: spondylometaphyseal dysplasias
 alt_id: DOID:9007642
 xref: MIM:PS184255;   ORDO:254

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spondylometaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:1677003 PMID:15666313 PMID:25741868 PMID:28492532 PMID:29100092 More... NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:25741868 PMID:28492532 PMID:30773278 NCBI chr 7:110,226,696...110,241,459
Ensembl chr 7:108,346,047...108,360,750 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia ClinVar PMID:18382993 PMID:25348816 PMID:25741868 PMID:28492532 NCBI chr13:96,071,058...96,095,709
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
axial spondylometaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Axial SMD | ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia OMIM
ClinVar		 PMID:11702989 PMID:20503334 PMID:21910225 PMID:23105016 PMID:25741868 More... NCBI chr20:10,687,506...10,694,366
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2363422 PMID:9536098 PMID:12786759 PMID:13524805 PMID:16470600 More... NCBI chr 8:28,939,984...28,946,639
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
Odontochondrodysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Odontochondrodysplasia 1 OMIM
ClinVar		 PMID:20089971 PMID:23956106 PMID:25741868 PMID:28492532 PMID:29872333 More... NCBI chr 6:126,760,263...126,832,619
Ensembl chr 6:120,998,733...121,067,781 		JBrowse link
Odontochondrodysplasia 2 with Hearing Loss and Diabetes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mia3 MIA SH3 domain ER export factor 3 ISO ClinVar Annotator: match by term: Odontochondrodysplasia 2 with hearing loss and diabetes OMIM
ClinVar		 PMID:25741868 NCBI chr13:97,502,040...97,547,155
Ensembl chr13:94,970,424...95,011,972 		JBrowse link
Spondyloenchondrodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:21217752 PMID:21217755 NCBI chr 8:28,939,984...28,946,639
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
spondylometaphyseal dysplasia Algerian type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
spondylometaphyseal dysplasia corner fracture type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:80,614,311...80,634,360
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type OMIM
ClinVar		 PMID:1544672 PMID:1677003 PMID:7747733 PMID:12042895 PMID:15666313 More... NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
spondylometaphyseal dysplasia Kozlowski type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: SMD Kozlowski type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Kozlowski type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:10463355 PMID:14755468 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr10:11,449,316...11,457,071
Ensembl chr10:10,943,001...10,950,649 		JBrowse link
Spondylometaphyseal Dysplasia Pagnamenta Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkg2 protein kinase cGMP-dependent 2 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, pagnamenta type OMIM
ClinVar		 PMID:34782440 NCBI chr14:10,864,020...10,972,617
Ensembl chr14:10,559,882...10,666,888 		JBrowse link
spondylometaphyseal dysplasia Sedaghatian type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: GPX4-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Sedaghatian type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:22529034 PMID:24706940 PMID:25741868 More... NCBI chr 7:10,300,833...10,303,629
Ensembl chr 7:9,650,185...9,652,982 		JBrowse link
spondylometaphyseal dysplasia with cone-rod dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15326626 PMID:21412974 PMID:24387990 PMID:24387991 PMID:25741868 More... NCBI chr11:81,818,914...81,862,623
Ensembl chr11:68,313,882...68,357,357 		JBrowse link
spondylometaphyseal dysplasia with corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcb3 phospholipase C beta 3 ISO ClinVar Annotator: match by term: PLCB3-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia with corneal dystrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29122926 NCBI chr 1:213,572,499...213,589,585
Ensembl chr 1:204,144,956...204,160,228 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      bone development disease 2387
        osteochondrodysplasia 882
          spondylometaphyseal dysplasia 15
            Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia 1
            Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
            Odontochondrodysplasia + 2
            Spondyloenchondrodysplasia 1
            Spondylometaphyseal Dysplasia Pagnamenta Type 1
            Spondylometaphyseal Dysplasia, X-Linked 0
            axial spondylometaphyseal dysplasia 1
            spondylometaphyseal dysplasia Algerian type 1
            spondylometaphyseal dysplasia East African type 0
            spondylometaphyseal dysplasia Kozlowski type 1
            spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 1
            spondylometaphyseal dysplasia Sedaghatian type 1
            spondylometaphyseal dysplasia corner fracture type 3
            spondylometaphyseal dysplasia type A4 0
            spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism 0
            spondylometaphyseal dysplasia with cone-rod dystrophy 1
            spondylometaphyseal dysplasia with corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      musculoskeletal system disease 8461
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              osteochondrodysplasia 882
                spondylometaphyseal dysplasia 15
                  Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia 1
                  Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
                  Odontochondrodysplasia + 2
                  Spondyloenchondrodysplasia 1
                  Spondylometaphyseal Dysplasia Pagnamenta Type 1
                  Spondylometaphyseal Dysplasia, X-Linked 0
                  axial spondylometaphyseal dysplasia 1
                  spondylometaphyseal dysplasia Algerian type 1
                  spondylometaphyseal dysplasia East African type 0
                  spondylometaphyseal dysplasia Kozlowski type 1
                  spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 1
                  spondylometaphyseal dysplasia Sedaghatian type 1
                  spondylometaphyseal dysplasia corner fracture type 3
                  spondylometaphyseal dysplasia type A4 0
                  spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism 0
                  spondylometaphyseal dysplasia with cone-rod dystrophy 1
                  spondylometaphyseal dysplasia with corneal dystrophy 1
paths to the root