Genopathy
Gene-Disorder Association · Article
Gene
HSPG2
Heparan Sulfate Proteoglycan 2
Disorder
Osteochondrodysplasia
First reported 2000
Supporting publications 1
Key publication · gene–disorder Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.American journal of medical genetics · 2000
Key publication · disorder [Special forms of fetal chondrodysplasia (chondrodystrophy), in particular congenital calcifying chondrodysplasia].Osterreichische Zeitschrift fur Kinderheilkunde und Kinderfursorge · 1950
Manually curated
Association Review

In brief

The association between HSPG2 (Heparan Sulfate Proteoglycan 2) and Osteochondrodysplasia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
HSPG2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Osteochondrodysplasia

The disorder

14 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
06
Provenance

References & sources

3 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access