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spondylometaphyseal dysplasia Algerian type - 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 Algerian type
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Accession:DOID:0112296 term browser browse the term
Definition:A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: SMDALG;   spondylometaphyseal dysplasia with severe genu valgum;   spondylometaphyseal dysplasia, Schmidt type
 alt_id: DOID:9000592
 xref: GARD:504;   MESH:C535794;   MIM:184253;   MONDO:0008478;   ORDO:93316

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spondylometaphyseal dysplasia Algerian type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type OMIM
ClinVar		 PMID:23653587 PMID:38162154 NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
G G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type OMIM
ClinVar		 PMID:23653587 PMID:38162154 NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468 		JBrowse link
G P COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type OMIM
ClinVar		 PMID:23653587 PMID:38162154 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		JBrowse link
G S Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type OMIM
ClinVar		 PMID:23653587 PMID:38162154 NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G D COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type OMIM
ClinVar		 PMID:23653587 PMID:38162154 NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		JBrowse link
G B COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type OMIM
ClinVar		 PMID:23653587 PMID:38162154 NCBI chr12:40,726,137...40,757,690 JBrowse link
G C Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type OMIM
ClinVar		 PMID:23653587 PMID:38162154 NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		JBrowse link
G R Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type OMIM
ClinVar		 PMID:23653587 PMID:38162154 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G M Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type OMIM
ClinVar		 PMID:23653587 PMID:38162154 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G H COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type OMIM
ClinVar		 PMID:23653587 PMID:38162154 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 287666
    Developmental Disease 170543
      bone development disease 24319
        osteochondrodysplasia 9148
          spondylometaphyseal dysplasia 159
            spondylometaphyseal dysplasia Algerian type 10
Path 2
Term Annotations click to browse term
  disease 287666
    disease of anatomical entity 271341
      musculoskeletal system disease 96325
        connective tissue disease 68407
          bone disease 49889
            bone development disease 24319
              osteochondrodysplasia 9148
                spondylometaphyseal dysplasia 159
                  spondylometaphyseal dysplasia Algerian type 10
paths to the root