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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:spondyloepiphyseal dysplasia Maroteaux type
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Accession:DOID:0111553 term browser browse the term
Definition:An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11. (DO)
Synonyms:exact_synonym: SED, Maroteaux type;   pseudo-Morquio syndrome, type 2;   spondyloepiphyseal dysplasia of Maroteaux
 primary_id: OMIM:184095
 xref: GARD:994;   ORDO:263482
For additional species annotation, visit the Alliance of Genome Resources.



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spondyloepiphyseal dysplasia Maroteaux 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 OMIM:184095
ClinVar Annotator: match by term: PSEUDO-MORQUIO SYNDROME, TYPE 2
ClinVar Annotator: match by term: SED, Maroteaux type
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type
OMIM
ClinVar
PMID:4056805 PMID:6628444 PMID:8179305 PMID:12884428 PMID:14755468 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      bone development disease 1424
        osteochondrodysplasia 478
          spondyloepiphyseal dysplasia 13
            spondyloepiphyseal dysplasia Maroteaux type 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        connective tissue disease 4432
          bone disease 3115
            bone development disease 1424
              osteochondrodysplasia 478
                spondyloepiphyseal dysplasia 13
                  spondyloepiphyseal dysplasia Maroteaux type 1
paths to the root