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Details
Link-It Detail - Disease - Fumarase deficiency
Debug Stats
  • ### Total Build Time: 18 ms 16.118 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 12.085 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 2.481 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Fumarase deficiency C0342770
Relationships (48)

Relation Types:
diso_​to_​diso : 48


Relationships:
manifestation_​of : 48
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Abnormal swollen mitochondria with flat, haphazardly arranged cristae C3276832
DISO_to_DISOmanifestation_ofimg Agenesis of Corpus Callosum C0175754
DISO_to_DISOmanifestation_ofimg Allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) C3276839
DISO_to_DISOmanifestation_ofimg Angulation of the frontal horns C2675975
DISO_to_DISOmanifestation_ofimg Anteverted nares C1853244
DISO_to_DISOmanifestation_ofimg BILIARY STASIS C0008370
DISO_to_DISOmanifestation_ofimg Bossed forehead C0221354
DISO_to_DISOmanifestation_ofimg Brain atrophy C0235946
DISO_to_DISOmanifestation_ofimg Byzanthine arch palate C0240635
DISO_to_DISOmanifestation_ofimg CPC - Choroid plexus cyst C0338597
DISO_to_DISOmanifestation_ofimg Caused by mutation in the fumarate hydratase gene (FH, 136850.0001) C2675978
DISO_to_DISOmanifestation_ofimg Coagulopathy in those with liver failure C3276838
DISO_to_DISOmanifestation_ofimg Cutaneous leiomyomata (heterozygote carriers) C1847442
DISO_to_DISOmanifestation_ofimg Decreased muscle bulk C2675977
DISO_to_DISOmanifestation_ofimg Decreased subcutaneous fat C1835128
DISO_to_DISOmanifestation_ofimg Decreased white matter volume C2675974
DISO_to_DISOmanifestation_ofimg Deposition of iron C0333596
DISO_to_DISOmanifestation_ofimg Depressed nasal bridge C1836542
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOmanifestation_ofimg Fibrosis C0016059
DISO_to_DISOmanifestation_ofimg Fumarase activity (mitochondrial and cytosolic) is decreased C1847441
DISO_to_DISOmanifestation_ofimg Fumaric aciduria C2936826
DISO_to_DISOmanifestation_ofimg Hyperbilirubinemia in those with liver failure C3276837
DISO_to_DISOmanifestation_ofimg Hypertelorism C0020534
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanFH2271fumarate hydratase
img OMIM, Score=1000, UMLKSK CUI: C0342770
img OMIM, Score=1000, UMLKSK CUI: C0342770
img OMIM, Score=1000, UMLKSK CUI: C0342770
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0342770Fumarase deficiency0self