Silverman-Handmaker type dyssegmental dysplasia - Ontology Report

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	go back to main search page
Accession:	DOID:0090032	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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Genes (1)

Silverman-Handmaker type dyssegmental dysplasia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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 chrNW_004624764:6,639,152...6,736,161
Ensembl chrNW_004624764:6,640,087...6,708,130

Term paths to the root

Path 1
Term	Annotations
disease	14102
disease of anatomical entity	13770
endocrine system disease	5515
Dwarfism	787
Silverman-Handmaker type dyssegmental dysplasia	1
Path 2
Term	Annotations
disease	14102
disease of anatomical entity	13770
musculoskeletal system disease	7235
connective tissue disease	4911
bone disease	3621
bone development disease	2143
Dwarfism	787
Silverman-Handmaker type dyssegmental dysplasia	1

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RGD DISEASE ONTOLOGY - ANNOTATIONS