(Q18553424)

English

cerebral folate receptor alpha deficiency

Human disease

neurodegenerative syndrome due to cerebral folate transport deficiency
NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
Cerebral folate deficiency

In more languages

Statements

0 references

class of disease

0 references

vitamin metabolic disorder

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

genetic disease

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

nervous system heredodegenerative disease

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

disorder of folate metabolism and transport

0 references

genetic association

4 references

Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/22c12588-dc55-4e90-827a-d7a6349e38a9--2018-04-27T16:49:24

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22c12588-dc55-4e90-827a-d7a6349e38a9-2018-04-27T164924.579Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000110195/MONDO_0013110

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

266.2

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

http://purl.obolibrary.org/obo/DOID_0050719

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0050719

1 reference

Identifiers.org

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

http://purl.obolibrary.org/obo/HP_0012446

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

http://www.orpha.net/ORDO/Orphanet_217382

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

PatientsLikeMe condition ID

cerebral-folate-deficiency

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

GARD rare disease ID

0 references

Genetics Home Reference Conditions ID

cerebral-folate-transport-deficiency

0 references

Google Knowledge Graph ID

0 references

Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

1 reference

Monarch Disease Ontology release 2018-06-29

3 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

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

UniProt disease ID

0 references

WikiProjectMed ID

Cerebral folate deficiency

0 references

Sitelinks

Wikipedia(7 entries)

arwiki نقص الفوليك الدماغي
dewiki Zerebraler Folatmangel
enwiki Cerebral folate deficiency
eswiki Deficiencia de folato cerebral
fiwiki Folaattireseptorin puutos
frwiki Déficit cérébral en folates
ruwiki Церебральная фолатная недостаточность

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)

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