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Details
Link-It Detail - Disease - Refsum Disease
Debug Stats
  • ### Total Build Time: 43 ms 36.044 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 432 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=2 ms Completed: 2 ms rowSize= 1,014 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 13.315 KB
  • CONCEPT_RELATIONSHIPS gt=26 ms Completed: 26 ms rowSize= 14.013 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 5.618 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Refsum Disease C0034960
Definition (1)
autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid alpha-hydroxylase results in accumulation of phytanic acid; manifested chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia and elevation of protein in cerebrospinal fluid.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Hereditary Sensory and Motor Neuropathy C0027888
img Peroxisomal Disorders C0282528
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278686img Hereditary Sensory and Motor Neuropathy C0027888
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Hereditary Sensory and Motor Neuropathy C0027888
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hereditary Sensory and Motor Neuropathy C0027888
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Hereditary Sensory and Motor Neuropathy C0027888
img Nervous System Diseases C0027765img Nervous System Malformations C04975524img Hereditary Sensory and Motor Neuropathy C0027888
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Peroxisomal Disorders C0282528
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Peroxisomal Disorders C0282528
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Peroxisomal Disorders C0282528
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Peroxisomal Disorders C0282528
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Peroxisomal Disorders C0282528
Relationships (45)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 6
diso_​to_​diso : 36
diso_​to_​phen : 2


Relationships:
none : 9
associated_​with : 2
classifies : 2
is_​associated_​anatomic_​site_​of : 1
isa : 1
manifestation_​of : 24
mapped_​to : 3
permuted_​term_​of : 1
related_​to : 1
use : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN10img genetic aspects C0017399
DISO_to_CHEM9img Acid, Phytanic C0031851
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_DISO5img Complication Aspects C1171258
DISO_to_CHEM3img Acid, Phytanic C0031851
DISO_to_CHEM3img CYTOPLASMIC NUCLEAR RECEPT C0206589
DISO_to_CHEM3img Fatty Acids C0015684
DISO_to_CHEM3img Mixed Function Oxygenases C0020364
DISO_to_DISO3img Complication Aspects C1171258
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_CHEMassociated_withimg Acid, Phytanic C0031851
DISO_to_DISOmanifestation_ofimg ABNORMAL ELECTROCARDIOGRAM C0522055
DISO_to_DISOmanifestation_ofimg Affected infants appear normal C2749358
DISO_to_DISOmanifestation_ofimg Anosmia C0003126
DISO_to_DISOmapped_toimg CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D C1832334
DISO_to_DISOmanifestation_ofimg Cardiac failure (sudden death has been reported) C2749355
DISO_to_DISOmanifestation_ofimg Cardiomegaly C0018800
DISO_to_DISOmanifestation_ofimg Cardiomyopathies C0878544
DISO_to_DISOmanifestation_ofimg Caused by mutation in the peroxisome biogenesis factor 7 gene (PEX7, 601757.0007) C2749357
DISO_to_DISOmanifestation_ofimg Caused by mutation in the phytanoyl-CoA hydroxylase gene (PHYH, 602026.0001) C2749356
DISO_to_DISOmanifestation_ofimg Congenital ichthyosis C0020758
DISO_to_DISOmanifestation_ofimg DYSPLASIA EPIPHYSEAL MULTIPLE C0026760
DISO_to_DISOmanifestation_ofimg Decreased Reflex C0151888
DISO_to_DISOmanifestation_ofimg Decreased phytanic acid oxidase activity C2749354
DISO_to_DISOassociated_withimg Dilated cardiomyopathy secondary to Refsum disease C0264825
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanPHYH5264phytanoyl-CoA 2-hydroxylase
img GENERIF, Score=1000, Pubmed Id: 12923223, UMLKSK CUI: C0034960
img GENERIF, Score=734, Pubmed Id: 14974078, UMLKSK CUI: C0034960
img GENERIF, Score=694, Pubmed Id: 18612766, UMLKSK CUI: C0034960
img OMIM, Score=1000, UMLKSK CUI: C0034960
HumanPEX75191peroxisomal biogenesis factor 7
img GENERIF, Score=734, Pubmed Id: 14974078, UMLKSK CUI: C0034960
img GENERIF, Score=1000, Pubmed Id: 14713215, UMLKSK CUI: C0034960
img OMIM, Score=1000, UMLKSK CUI: C0034960
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0034960Refsum Disease0self