Genopathy
Gene-Disorder Association · Article
Gene
COL11A1
Collagen Type XI Alpha 1 Chain
Disorder
Rhizomelic Chondrodysplasia Punctata, Type 3
First reported 1994
Key publication · disorder Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder.Journal of inherited metabolic disease · 1994
Manually curated
Association Review

In brief

The association between COL11A1 (Collagen Type XI Alpha 1 Chain) and Rhizomelic Chondrodysplasia Punctata, Type 3 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 15
Compounds 0
Trials 0
Publications 0
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
COL11A1

The gene

1 source summary

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

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04
Rhizomelic Chondrodysplasia Punctata, Type 3

The disorder

11 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

7 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

4 references

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

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