(Q55784375)

English

brown-Vialetto-van Laere syndrome 2

human disease

Brown-Vialetto-Van Laere Syndrome type 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2
BVVLS2
Brown-Vialetto-Van Laere syndrome 2

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Statements

instance of

head and neck disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013867

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

autosomal recessive disease

1 reference

30 November 2020

Brown-Vialetto-Van Laere syndrome

1 reference

30 November 2020

4 references

13 August 2019

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/5a500078-4cd5-49db-b22e-c5628ee07304--2018-07-09T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a500078-4cd5-49db-b22e-c5628ee07304-2018-07-09T160000.000Z

NCI Thesaurus ID

C183529

0 references

exact match

http://www.orpha.net/ORDO/Orphanet_97229

0 references

http://purl.obolibrary.org/obo/DOID_0080786

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0080786

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

1 reference

30 November 2020

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q55784375)

brown-Vialetto-van Laere syndrome 2

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