(Q56002711)

English

constitutional megaloblastic anemia with severe neurologic disease

human disease

Dihydrofolate reductase deficiency
DHFR deficiency
MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY

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Statements

instance of

class of disease

0 references

subclass of

constitutional megaloblastic anemia due to folate metabolism disorder

0 references

genetic association

DHFR

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000228716/MONDO_0013456

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_319651

0 references

Identifiers

MeSH descriptor ID

C565095

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0013456

ICD-11 ID (Foundation)

0 references

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

Sitelinks

Wikipedia(3 entries)

dewiki DHFR-Mangel
enwiki Dihydrofolate reductase deficiency
ruwiki Недостаточность дигидрофолатредуктазы

(Q56002711)

constitutional megaloblastic anemia with severe neurologic disease

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Identifiers

Sitelinks

Wikipedia(3 entries)

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