Genopathy
Gene-Disorder Association · Article
Gene
EBP
EBP Cholestenol Delta-Isomerase
Disorder
Chondrodysplasia Punctata 2, X-Linked Dominant
First reported 1992
Supporting publications 24
Key publication · gene–disorder Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.Human genetics · 1992
Key publication · disorder Chondrodystrophia calcificans congenita; case report with autopsy findings.The Journal of bone and joint surgery. American volume · 1950
Manually curated
Association Review

In brief

The association between EBP (EBP Cholestenol Delta-Isomerase) and Chondrodysplasia Punctata 2, X-Linked Dominant is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 67
Symptoms 107
Compounds 0
Trials 0
Publications 24
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

5 sources

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

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03
EBP

The gene

1 source summary

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

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04
Chondrodysplasia Punctata 2, X-Linked Dominant

The disorder

10 database identifiers

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

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05
Phenotype

Clinical features

79 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

67 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

24 publications

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

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09
Provenance

References & sources

16 references

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

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