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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:226900
DN A:mutations:intron,exon:-26+2T>C,837C>T(p.R279W)(human)
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 4
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae
OMIM
ClinVar
PMID:7923357, PMID:8528239, PMID:8571951, PMID:8702127, PMID:8723100, PMID:8931695, PMID:9342225, PMID:10465113, PMID:10482955, PMID:11241838, PMID:11303514, PMID:11448940, PMID:11558903, PMID:11565064, PMID:11727031, PMID:12525546, PMID:12966518, PMID:15294877, PMID:15316973, PMID:16642506, PMID:17393463, PMID:18553123, PMID:18708426, PMID:18925670, PMID:20219950, PMID:20301524, PMID:20525296, PMID:21077202, PMID:21077204, PMID:21155763, PMID:21228398, PMID:21922596, PMID:22052783, PMID:23840040, PMID:24033266, PMID:24598000, PMID:25741868, PMID:26077908, PMID:27065010, PMID:28492532, PMID:29024831, PMID:31880411, PMID:24598000 RGD:13208864 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      bone development disease 1329
        osteochondrodysplasia 435
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              osteochondrodysplasia 435
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.