(Q26492834)

English

mosaic variegated aneuploidy syndrome 1

Human disease

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1
Mva Syndrome
MVA1
mosaic variegated aneuploidy syndrome type 1
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

In more languages

edit

Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

1 reference

15 May 2019

mosaic variegated aneuploidy syndrome

1 reference

30 November 2020

autosomal recessive disease

1 reference

30 November 2020

0 references

4 references

13 August 2019

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

4 January 2021

https://search.clinicalgenome.org/kb/gene-validity/59147f27-d5a3-4760-ba8d-0429bae3c906--2019-11-22T14:53:26

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59147f27-d5a3-4760-ba8d-0429bae3c906-2019-11-22T145326.352Z

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C128192

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0080141

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0080141

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

Identifiers

0 references

1 reference

30 November 2020

0 references

1 reference

28 August 2019

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

0 references

Sitelinks

Wikipedia(1 entry)

trwiki MVA sendromu

(Q26492834)

mosaic variegated aneuploidy syndrome 1

Statements

Identifiers

Sitelinks

Wikipedia(1 entry)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)