Genopathy
Gene-Disorder Association · Article
Gene
PTH1R
Parathyroid Hormone 1 Receptor
Disorder
Osteochondrodysplasia
First reported 1996
Supporting publications 4
Key publication · gene–disorder Hypercalcemia due to constitutive activity of the parathyroid hormone (PTH)/PTH-related peptide receptor: comparison with primary hyperparathyroidism.The Journal of clinical endocrinology and metabolism · 1996
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 PTH1R (Parathyroid Hormone 1 Receptor) and Osteochondrodysplasia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 4
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

1 source

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

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03
PTH1R

The gene

1 source summary

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

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04
Osteochondrodysplasia

The disorder

14 database identifiers

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

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05
Literature

Reading

4 publications

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

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06
Provenance

References & sources

6 references

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

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