Genopathy
Gene-Disorder Association · Article
Gene
EBP
EBP Cholestenol Delta-Isomerase
Disorder
Chondrodysplasia Punctata Syndrome
First reported 2000
Supporting publications 4
Key publication · gene–disorder Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.American journal of medical genetics · 2000
Key publication · disorder [Description of chondrodysplasia calcificans congenita and its relation to chondrodysplasia foetalis].Annales paediatrici. International review of pediatrics · 1953
Manually curated
Association Review

In brief

The association between EBP (EBP Cholestenol Delta-Isomerase) and Chondrodysplasia Punctata Syndrome is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 1
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.

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
EBP

The gene

1 source summary

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

Request access
04
Chondrodysplasia Punctata Syndrome

The disorder

12 database identifiers

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

Request access
05
Literature

Reading

4 publications

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

Request access
06
Provenance

References & sources

7 references

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

Request access