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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:Silverman-Handmaker type dyssegmental dysplasia
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Accession:DOID:0090032 term browser browse the term
Definition:An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. (DO)
Synonyms:exact_synonym: Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type;   Anisospondylic camptomicromelic dwarfism;   DDSH;   Dyssegmental Dwarfism, Silverman-Handmaker Type;   Dyssegmental dwarfism;   Dyssegmental dysplasia
 broad_synonym: HSPG2-RELATED DISORDER
 primary_id: MESH:C537998;   RDO:0003927
 alt_id: OMIM:224410
 xref: ICD10CM:Q77.7;   ORDO:1865
For additional species annotation, visit the Alliance of Genome Resources.



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Silverman-Handmaker type dyssegmental dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyssegmental Dysplasia
OMIM
CTD
ClinVar
PMID:11279527 PMID:25741868 NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      endocrine system disease 6214
        Dwarfism 692
          Silverman-Handmaker type dyssegmental dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      musculoskeletal system disease 7137
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              Dwarfism 692
                Silverman-Handmaker type dyssegmental dysplasia 1
paths to the root