Genopathy
Gene-Disorder Association · Article
Gene
SLCO2A1
Solute Carrier Organic Anion Transporter Family Member 2A1
Disorder
Craniometadiaphyseal Dysplasia Wormian Bone Type
First reported 1991
Key publication · disorder Radiographic features of craniometadiaphyseal dysplasia, wormian bone type.Skeletal radiology · 1991
Manually curated
Association Review

In brief

The association between SLCO2A1 (Solute Carrier Organic Anion Transporter Family Member 2A1) and Craniometadiaphyseal Dysplasia Wormian Bone Type is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 26
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
SLCO2A1

The gene

1 source summary

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

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04
Craniometadiaphyseal Dysplasia Wormian Bone Type

The disorder

5 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

26 clinical features

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

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06
Provenance

References & sources

5 references

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

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