(Q6029027)

English

peroxisome biogenesis disorder type 3B

Human disease

INFANTILE PHYTANIC ACID STORAGE DISEASE
PEROXISOME BIOGENESIS DISORDER 3B
Peroxisome Biogenesis Disorder type 3B
PEROXISOME BIOGENESIS DISORDER 3B; PBD3B
PBD3B
infantile Refsum disease

In more languages

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Statements

0 references

1 reference

29 November 2020

Zellweger spectrum disorder

0 references

infantile Refsum disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0009959

Neonatal adrenoleukodystrophy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

1 reference

29 November 2020

2 references

13 August 2019

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000108733/MONDO_0009959

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C84789

1 reference

28 August 2019

C155753

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0050444

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0050444

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_44

0 references

http://www.orpha.net/ORDO/Orphanet_772

0 references

Identifiers

1 reference

29 November 2020

1 reference

imported from Wikimedia project

English Wikipedia

Encyclopædia Britannica Online ID

topic/infantile-Refsum-disease

subject named as

infantile Refsum disease

0 references

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

1 reference

28 August 2019

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

(Q6029027)

peroxisome biogenesis disorder type 3B

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Identifiers

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