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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
 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
ClinVar Annotator: match by term: Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type
OMIM
CTD
ClinVar
PMID:11279527, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:155,812,096...155,913,751 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      endocrine system disease 4987
        Dwarfism 493
          Silverman-Handmaker type dyssegmental dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              Dwarfism 493
                Silverman-Handmaker type dyssegmental dysplasia 1
paths to the root

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