(Q55784779)

English

pancytopenia-developmental delay syndrome

human disease

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

In more languages

Statements

0 references

class of disease

0 references

rare genetic bone disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare genetic immune disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000182150/MONDO_0014317

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_401764

0 references

Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

Sitelinks

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Wikinews(0 entries)

Wikiquote(0 entries)

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Wikiversity(0 entries)

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Multilingual sites(0 entries)

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