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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;   DDSH;   Dyssegmental Dwarfism, Silverman-Handmaker Type;   Dyssegmental dwarfism;   anisospondylic camptomicromelic dwarfism;   dyssegmental dysplasia
 broad_synonym: HSPG2-RELATED CONDITION;   HSPG2-RELATED DISORDER
 related_synonym: QUALITATIVE OR QUANTITATIVE DEFECTS OF PERLECAN;   QUALITATIVE OR QUANTITATIVE DEFECTS OF PLECTIN
 primary_id: MESH:C537998
 alt_id: OMIM:224410
 xref: ICD10CM:Q77.7;   ORDO:1865


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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 ClinVar Annotator: match by term: Dyssegmental Dysplasia | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin ClinVar PMID:25741868 NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      endocrine system disease 5967
        Dwarfism 851
          Silverman-Handmaker type dyssegmental dysplasia 2
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7805
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2300
              Dwarfism 851
                Silverman-Handmaker type dyssegmental dysplasia 2
paths to the root