autosomal dominant Robinow syndrome 2

Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has material basis in heterozygous mutation in the DVL1 gene on chromosome 1p36

MedicalCondition rare_disease Q28065570

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Summary

autosomal dominant Robinow syndrome 2 is a rare disease^[1].

Key Facts

autosomal dominant Robinow syndrome 2's instance of is recorded as rare disease^[2].
autosomal dominant Robinow syndrome 2's instance of is recorded as class of disease^[3].
autosomal dominant Robinow syndrome 2's subclass of is recorded as Robinow syndrome^[4].
autosomal dominant Robinow syndrome 2's subclass of is recorded as autosomal dominant disease^[5].
autosomal dominant Robinow syndrome 2's OMIM ID is recorded as 616331^[6].
autosomal dominant Robinow syndrome 2's Disease Ontology ID is recorded as DOID:0060765^[7].
autosomal dominant Robinow syndrome 2's Orphanet ID is recorded as 3107^[8].
autosomal dominant Robinow syndrome 2's genetic association is recorded as DVL1^[9].
autosomal dominant Robinow syndrome 2's exact match is recorded as http://identifiers.org/doid/DOID:0060765^[10].
autosomal dominant Robinow syndrome 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060765^[11].
autosomal dominant Robinow syndrome 2's UMLS CUI is recorded as C4225363^[12].
autosomal dominant Robinow syndrome 2's ICD-10-CM is recorded as Alexandria.1^[13].
autosomal dominant Robinow syndrome 2's on focus list of Wikimedia project is recorded as WikiProject Medicine^[14].
autosomal dominant Robinow syndrome 2's Mondo ID is recorded as MONDO_0014591^[15].
autosomal dominant Robinow syndrome 2's UniProt disease ID is recorded as DI-04392^[16].

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Quick Facts

Instance of rare disease, class of disease

Subclass of Robinow syndrome, autosomal dominant disease

Properties

Exact match identifiers.org, purl.obolibrary.org

Genetic association DVL1

Imported from wholeness_audit_2026-05-02

On focus list of wikimedia project WikiProject Medicine

External References (7)

Disease ontology id DOID:0060765

Icd-10-cm Q87.1

Mondo id MONDO_0014591

Omim id 616331

Orphanet id 3107

Umls cui C4225363

Uniprot disease id DI-04392

🏷️ Also known as

en autosomal dominant Robinow syndrome 2 en autosomal dominant Robinow syndrome type 2 en DRS2 en ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 en ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2 en Robinow Syndrome, Autosomal Dominant type 2

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

[2] ↑ autosomal dominant Robinow syndrome 2 — instance of (P31): rare disease. wikidata.org.
[3] ↑ autosomal dominant Robinow syndrome 2 — instance of (P31): class of disease. wikidata.org.
[4] ↑ autosomal dominant Robinow syndrome 2 — subclass of (P279): Robinow syndrome. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[5] ↑ autosomal dominant Robinow syndrome 2 — subclass of (P279): autosomal dominant disease. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[6] ↑ autosomal dominant Robinow syndrome 2 — OMIM ID (P492): 616331. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-08-07. wikidata.org.
[7] ↑ autosomal dominant Robinow syndrome 2 — Disease Ontology ID (P699): DOID:0060765. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[8] ↑ autosomal dominant Robinow syndrome 2 — Orphanet ID (P1550): 3107. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[9] ↑ autosomal dominant Robinow syndrome 2 — genetic association (P2293): DVL1. UniProt. Retrieved 2019-08-13. wikidata.org.
[10] ↑ autosomal dominant Robinow syndrome 2 — exact match (P2888): http://identifiers.org/doid/DOID:0060765. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[11] ↑ autosomal dominant Robinow syndrome 2 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0060765. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[12] ↑ autosomal dominant Robinow syndrome 2 — UMLS CUI (P2892): C4225363. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-08-07. wikidata.org.
[13] ↑ autosomal dominant Robinow syndrome 2 — ICD-10-CM (P4229): Alexandria.1. Disease Ontology. Retrieved 2018-07-11. wikidata.org.
[14] ↑ autosomal dominant Robinow syndrome 2 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[15] ↑ autosomal dominant Robinow syndrome 2 — Mondo ID (P5270): MONDO_0014591. wikidata.org.
[16] ↑ autosomal dominant Robinow syndrome 2 — UniProt disease ID (P11430): DI-04392. wikidata.org.

Class ancestry

[1] ↑ autosomal dominant Robinow syndrome 2 is an instance of rare disease (Q929833) [P31, primary]. Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA

4ort.xyz Knowledge Graph. (2026). autosomal dominant Robinow syndrome 2. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-robinow-syndrome-2

MLA

“autosomal dominant Robinow syndrome 2.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-robinow-syndrome-2.

BibTeX

@misc{4ortxyz_autosomal-dominant-robinow-syndrome-2_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant Robinow syndrome 2}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-robinow-syndrome-2}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal dominant Robinow syndrome 2 — https://4ort.xyz/entity/autosomal-dominant-robinow-syndrome-2 (retrieved 2026-05-03)

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