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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 Sedaghatian type
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Accession:DOID:0112298 term browser browse the term
Definition:A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in GPX4 on chromosome 19p13.3. (DO)
Synonyms:exact_synonym: Lethal Metaphyseal Dysplasia;   Metaphyseal Chondrodysplasia, Congenital Lethal;   SMDS;   Sedaghatian Chondrodysplasia
 primary_id: MESH:C535798
 alt_id: DOID:9003961;   OMIM:250220
 xref: GARD:4993;   ORDO:93317
For additional species annotation, visit the Alliance of Genome Resources.



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spondylometaphyseal dysplasia Sedaghatian type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Sedaghatian type OMIM
ClinVar
PMID:22529034 PMID:24706940 PMID:25741868 PMID:28492532 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      bone development disease 1875
        osteochondrodysplasia 614
          spondylometaphyseal dysplasia 13
            spondylometaphyseal dysplasia Sedaghatian type 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              osteochondrodysplasia 614
                spondylometaphyseal dysplasia 13
                  spondylometaphyseal dysplasia Sedaghatian type 1
paths to the root