(Q28065597)

English

hypomyelinating leukodystrophy 11

Human disease

HLD11
LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11
Leukodystrophy, Hypomyelinating, type 11
hypomyelinating leukodystrophy type 11

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Statements

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class of disease

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hypomyelinating leukodystrophy

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

health specialty

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genetic association

2 references

UniProt protein ID

13 August 2019

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0060792

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0060792

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

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