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RGD uses the Human Disease Ontology (DO, 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: Spondyloepiphyseal dysplasia Maroteaux type
ClinVar Annotator: match by term: SED, Maroteaux type
PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:12884428, PMID:14755468, PMID:18587396, PMID:19232556, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21573172, PMID:21658220, PMID:21964574, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24575025, PMID:24677493, PMID:24789864, PMID:25256292, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26170305, PMID:26249260, PMID:26467025, PMID:27330106, PMID:28492532, PMID:28898540, PMID:30311386 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          spondyloepiphyseal dysplasia Maroteaux type 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                spondyloepiphyseal dysplasia Maroteaux type 1
paths to the root


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