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(Q61913385)
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English
peroxisomal biogenesis disorder
peroxisomal biogenesis disorder that has material basis in defects in PEX genes
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Statements
instance of
class of disease
0 references
subclass of
peroxisomal disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080377
genetic association
PEX16
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000121680/Orphanet_79189
based on heuristic
inferred from an Open Targets association score over 0.7
PEX5
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000139197/Orphanet_79189
based on heuristic
inferred from an Open Targets association score over 0.7
PEX2
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000164751/Orphanet_79189
based on heuristic
inferred from an Open Targets association score over 0.7
PEX26
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000215193/Orphanet_79189
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0080377
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080377
http://identifiers.org/doid/DOID:0080377
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
MeSH descriptor ID
C536664
0 references
Disease Ontology ID
DOID:0080377
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080377
GARD rare disease ID
11890
0 references
9473
0 references
Orphanet ID
79189
0 references
UMLS CUI
C1832200
0 references
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