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Details
Link-It Detail - Disease - Peroxisomal Disorders
Debug Stats
  • ### Total Build Time: 33 ms 42.384 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 402 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 786 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 1,012 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 3.126 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.780 KB
  • CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 10.234 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 18.729 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Peroxisomal Disorders C0282528
Disorder of peroxisomal function
Definition (1)
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Metabolism, Inborn Errors C0025521
img Brain Diseases, Metabolic, Inborn C0752109
Children (7)
img Mevalonate Kinase Deficiency C0342731
img Refsum Disease C0034960
img Zellweger Syndrome C0043459
img Chondrodysplasia Punctata, Rhizomelic C0282529
img Adrenoleukodystrophy C0162309
img Acatalasia C0268419
img Refsum Disease, Infantile C0282527
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Metabolism, Inborn Errors C0025521
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Metabolism, Inborn Errors C0025521
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
Relationships (23)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 3
diso_​to_​diso : 13
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 11
classifies : 2
expanded_​form_​of : 1
isa : 3
mapped_​to : 6
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN49img genetic aspects C0017399
DISO_to_PHEN26img genetic aspects C0017399
DISO_to_ANAT25img Peroxisomes C0752063
DISO_to_ANAT15img Peroxisomes C0752063
DISO_to_CHEM11img Fatty Acids C0015684
DISO_to_CHEM10img Fatty Acids C0015684
DISO_to_ANAT9img In Blood C0005768
DISO_to_PHYS7img Mutation C0026882
DISO_to_ANAT6img Brain C0006104
DISO_to_CHEM6img Membrane Associated Proteins C0025252
DISO_to_DISO6img Complication Aspects C1171258
DISO_to_DISOmapped_toimg Adrenoleukodystrophy C0162309
DISO_to_DISOmapped_toimg Adrenoleukodystrophy, Neonatal C0282525
DISO_to_DISOmapped_toimg Bile acid synthesis defect, congenital, 4 C1858328
DISO_to_DISOmapped_toimg Chondrodysplasia Punctata, Rhizomelic C0282529
DISO_to_DISOexpanded_form_ofimg Disorder of peroxisomal function C0282528
DISO_to_DISOisaimg Dysfunction, General Peroxisomal C0751708
DISO_to_DISOisaimg Dysfunction, Multiple Peroxisomal C0751709
DISO_to_DISOisaimg Dysfunction, Single Peroxisomal C0751710
DISO_to_DISOclassifiesimg Other and unspecified metabolic; nutritional; and endocrine disorders C0810255
DISO_to_DISOclassifiesimg Other endo metab nutri disease C0497409
DISO_to_DISOmapped_toimg PBD C1832200
DISO_to_DISOmapped_toimg Zellweger Syndrome C0043459
Genes (39)

Species:
human : 39
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanLOC100507436100507436
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanOCTN3100049579organic cation transporter 3
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanMIR212406994microRNA 212
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanEXOSC6118460exosome component 6
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanACSBG281616acyl-CoA synthetase bubblegum family member 2
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanPTPN2226191protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanCLEC16A23274C-type lectin domain family 16, member A
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanACSBG123205acyl-CoA synthetase bubblegum family member 1
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanBCAP3110134B-cell receptor-associated protein 31
img GENERIF, Score=988, Pubmed Id: 11992258, UMLKSK CUI: C0282528
HumanPEX169409peroxisomal biogenesis factor 16
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanTTPA7274tocopherol (alpha) transfer protein
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanSRD5A26716steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanSNCA6622synuclein, alpha (non A4 component of amyloid precursor)
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanS100B6285S100 calcium binding protein B
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanPEX55830peroxisomal biogenesis factor 5
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanABCD45826ATP-binding cassette, sub-family D (ALD), member 4
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanABCD35825ATP-binding cassette, sub-family D (ALD), member 3
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanPLG5340plasminogen
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanPHYH5264phytanoyl-CoA 2-hydroxylase
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanPEX145195peroxisomal biogenesis factor 14
INFERRED, Score=800, UMLKSK CUI: C0282528
HumanPEX135194peroxisomal biogenesis factor 13
img GENERIF, Score=717, Pubmed Id: 16006427, UMLKSK CUI: C0282528
HumanPEX125193peroxisomal biogenesis factor 12
img GENERIF, Score=1000, Pubmed Id: 17534573, UMLKSK CUI: C0282528
HumanPEX75191peroxisomal biogenesis factor 7
INFERRED, Score=800, UMLKSK CUI: C0282528
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0282528Peroxisomal Disorders0self