Genopathy
Gene-Disorder Association · Article
Gene
ROR2
Receptor Tyrosine Kinase Like Orphan Receptor 2
Disorder
Autosomal Recessive Robinow Syndrome
First reported 2000
Supporting publications 11
Key publication · gene–disorder Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.Nature genetics · 2000
Key publication · disorder A newly recognized dwarfing syndrome.American journal of diseases of children (1960) · 1969
Manually curated
Association Review

In brief

The association between ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2) and Autosomal Recessive Robinow Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 361
Symptoms 81
Compounds 0
Trials 0
Publications 11
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

3 sources

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

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03
ROR2

The gene

1 source summary

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

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04
Autosomal Recessive Robinow Syndrome

The disorder

7 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

361 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

11 publications

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

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09
Provenance

References & sources

14 references

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

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