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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
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Sedaghatian type
ClinVar
OMIM
PMID:22529034 PMID:24706940 PMID:25741868 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      bone development disease 1392
        osteochondrodysplasia 454
          spondylometaphyseal dysplasia 11
            spondylometaphyseal dysplasia Sedaghatian type 1
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      musculoskeletal system disease 6301
        connective tissue disease 4386
          bone disease 3068
            bone development disease 1392
              osteochondrodysplasia 454
                spondylometaphyseal dysplasia 11
                  spondylometaphyseal dysplasia Sedaghatian type 1
paths to the root