pancytopenia-developmental delay syndrome

human disease

MedicalCondition rare_disease Q55784779

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pancytopenia-developmental delay syndrome

Summary

pancytopenia-developmental delay syndrome is a rare disease^[1].

Key Facts

pancytopenia-developmental delay syndrome's instance of is recorded as rare disease^[2].
pancytopenia-developmental delay syndrome's instance of is recorded as class of disease^[3].
pancytopenia-developmental delay syndrome's subclass of is recorded as rare genetic bone disease^[4].
pancytopenia-developmental delay syndrome's subclass of is recorded as rare genetic immune disease^[5].
pancytopenia-developmental delay syndrome's OMIM ID is recorded as 615715^[6].
pancytopenia-developmental delay syndrome's Orphanet ID is recorded as 401764^[7].
pancytopenia-developmental delay syndrome's genetic association is recorded as ERCC6L2^[8].
pancytopenia-developmental delay syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_401764^[9].
pancytopenia-developmental delay syndrome's UMLS CUI is recorded as C3810350^[10].
pancytopenia-developmental delay syndrome's UMLS CUI is recorded as C4751507^[11].
pancytopenia-developmental delay syndrome's ICD-10-CM is recorded as D61.0^[12].
pancytopenia-developmental delay syndrome's Mondo ID is recorded as MONDO_0014317^[13].
pancytopenia-developmental delay syndrome's UniProt disease ID is recorded as DI-04043^[14].

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Quick Facts

Instance of rare disease, class of disease

Subclass of rare genetic bone disease, rare genetic immune disease

Properties

Exact match www.orpha.net

Genetic association ERCC6L2

Imported from wholeness_audit_2026-05-02

External References (6)

Icd-10-cm D61.0

Mondo id MONDO_0014317

Omim id 615715

Orphanet id 401764

Umls cui C3810350, C4751507

Uniprot disease id DI-04043

🏷️ Also known as

en BMFS2 en BONE MARROW FAILURE SYNDROME 2 en BONE MARROW FAILURE SYNDROME 2; BMFS2 en Bone Marrow Failure Syndrome type 2 en pancytopenia-developmental delay syndrome en Trilineage bone marrow failure-developmental delay syndrome

References

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

Direct Wikidata claims

[2] ↑ pancytopenia-developmental delay syndrome — instance of (P31): rare disease. wikidata.org.
[3] ↑ pancytopenia-developmental delay syndrome — instance of (P31): class of disease. wikidata.org.
[4] ↑ pancytopenia-developmental delay syndrome — subclass of (P279): rare genetic bone disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ pancytopenia-developmental delay syndrome — subclass of (P279): rare genetic immune disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ pancytopenia-developmental delay syndrome — OMIM ID (P492): 615715. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ pancytopenia-developmental delay syndrome — Orphanet ID (P1550): 401764. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ pancytopenia-developmental delay syndrome — genetic association (P2293): ERCC6L2. ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. Retrieved 2023-08-24. platform.opentargets.org. Provenance: wikidata.org.
[9] ↑ pancytopenia-developmental delay syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_401764. wikidata.org.
[10] ↑ pancytopenia-developmental delay syndrome — UMLS CUI (P2892): C3810350. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[11] ↑ pancytopenia-developmental delay syndrome — UMLS CUI (P2892): C4751507. UMLS 2023. Retrieved 2023-06-16. wikidata.org.
[12] ↑ pancytopenia-developmental delay syndrome — ICD-10-CM (P4229): D61.0. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[13] ↑ pancytopenia-developmental delay syndrome — Mondo ID (P5270): MONDO_0014317. wikidata.org.
[14] ↑ pancytopenia-developmental delay syndrome — UniProt disease ID (P11430): DI-04043. wikidata.org.

Class ancestry

[1] ↑ pancytopenia-developmental delay syndrome 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). pancytopenia-developmental delay syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/pancytopenia-developmental-delay-syndrome

MLA

“pancytopenia-developmental delay syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/pancytopenia-developmental-delay-syndrome.

BibTeX

@misc{4ortxyz_pancytopenia-developmental-delay-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{pancytopenia-developmental delay syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/pancytopenia-developmental-delay-syndrome}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): pancytopenia-developmental delay syndrome — https://4ort.xyz/entity/pancytopenia-developmental-delay-syndrome (retrieved 2026-05-03)

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