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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:multiple epiphyseal dysplasia 4
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Accession:DOID:0070300 term browser browse the term
Definition:A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. (DO)
Synonyms:exact_synonym: EDM4;   MED4;   Multiple epiphyseal dysplasia with bilayered patellae;   Multiple epiphyseal dysplasia with clubfoot;   Multiple epiphyseal dysplasia with double-layered patella;   autosomal recessive multiple epiphyseal dysplasia;   multiple epiphyseal dysplasia with bilateral patellae;   polyepiphyseal dysplasia type 4;   rMED
 primary_id: MESH:C535504;   OMIM:226900
 xref: GARD:9793;   ORDO:93307


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multiple epiphyseal dysplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO DN A:mutations:intron,exon:-26+2T>C,837C>T(p.R279W)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with double-layered patella		 OMIM
CTD
ClinVar
RGD		 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... RGD:13208864 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      bone development disease 2307
        osteochondrodysplasia 861
          multiple epiphyseal dysplasia 11
            multiple epiphyseal dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                multiple epiphyseal dysplasia 11
                  multiple epiphyseal dysplasia 4 1
paths to the root