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Details
Link-It Detail - Human Phenotype - Abnormality of the liver
Debug Stats
  • ### Total Build Time: 61 ms 36.934 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 199 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 195 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 456 bytes
  • CONCEPT_CHILDREN gt=11 ms Completed: 11 ms rowSize= 9.739 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.171 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=40 ms Completed: 40 ms rowSize= 24.030 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.019 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the liver HP:0001392
Definition (1)
An abnormality of the `liver` (FMA:7197).
Parents (1)
img Abnormality of the abdominal organs HP:0002012
Children (30)
img Neoplasm of the liver HP:0002896
img Hepatic steatosis HP:0001397
img Hepatic abscesses due to immunodeficiency HP:0001400
img Hepatic granulomatosis HP:0011955
img Hepatic fibrosis HP:0001395
img Depletion of mitochondrial DNA in liver HP:0006581
img Elevated hepatic transaminases HP:0002910
img Abnormality of the biliary system HP:0004297
img Degenerative liver disease HP:0005237
img Reye syndrome-like episodes HP:0006582
img Decreased liver function HP:0001410
img Hepatic calcification HP:0006559
img Hepatitis HP:0012115
img Liver abscess HP:0100523
img Abnormal liver function tests HP:0001411
img Hepatic necrosis HP:0002605
img Hepatocellular carcinoma HP:0001402
img Decreased mitochondrial complex III activity in liver tissue HP:0006558
img Lipid accumulation in hepatocytes HP:0006561
img Abnormality of the hepatic vasculature HP:0006707
img Hepatomegaly HP:0002240
img Hepatic agenesis HP:0100839
img Hepatic amyloidosis HP:0012280
img Cystic liver disease HP:0006706
img Viral hepatitis HP:0006562
img Increased hepatic glycogen content HP:0006568
img Hepatosplenomegaly HP:0001433
img Cirrhosis HP:0001394
img Nodular regenerative hyperplasia of liver HP:0011954
img Abnormal liver lobulation HP:0100752
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the abdominal organs HP:0002012
Genes (569)

Species:
human : 569
Page Size
Current 25
  Page 1 of 23
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanOCLN100506658occludin
img HP RolledUp, OMIM ID: 251290
HumanNAFLD2100462725Fatty liver disease, nonalcoholic, susceptibility to, 2
img HP RolledUp, OMIM ID: 613387
HumanFLD1100380876Fatty liver disease 1, susceptiblity to
img HP RolledUp, OMIM ID: 613282
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanCFSS100188773craniofacioskeletal syndrome
img HP RolledUp, OMIM ID: 300712
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP IEA, OMIM ID: 210710
HumanKTWS791122Klippel-Trenaunay-Weber syndrome
img HP RolledUp, OMIM ID: 149000
HumanNKCD780917Natural killer cell deficiency, familial isolated
img HP RolledUp, OMIM ID: 609981
HumanSFTPA2729238surfactant protein A2
img HP RolledUp, OMIM ID: 178500
HumanMUC5B727897mucin 5B, oligomeric mucus/gel-forming
img HP RolledUp, OMIM ID: 178500
HumanSFTPA1653509surfactant protein A1
img HP RolledUp, OMIM ID: 178500
HumanNCF1653361neutrophil cytosolic factor 1
img HP RolledUp, OMIM ID: 233700
HumanEKV3574017erythrokeratodermia variabilis 3 (Kamouraska type)
img HP RolledUp, OMIM ID: 609313
HumanCOA5493753cytochrome c oxidase assembly factor 5
img HP RolledUp, OMIM ID: 220110
HumanBOLA3388962bolA family member 3
img HP RolledUp, OMIM ID: 614299
HumanLCRB387281locus control region, beta
img HP RolledUp, OMIM ID: 604131
img HP RolledUp, OMIM ID: 613985
HumanNHLRC1378884NHL repeat containing 1
img HP RolledUp, OMIM ID: 254780
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img HP RolledUp, OMIM ID: 256000
HumanZLS353173Zimmerman-Laband Syndrome
img HP RolledUp, OMIM ID: 135500
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
img HP RolledUp, OMIM ID: 251110
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanPTRF284119polymerase I and transcript release factor
img HP RolledUp, OMIM ID: 613327
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP RolledUp, OMIM ID: 180860
img HP RolledUp, OMIM ID: 130650
HumanELMOD2255520ELMO/CED-12 domain containing 2
img HP RolledUp, OMIM ID: 178500
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001392Abnormality of the liver0self