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Details
Link-It Detail - Human Phenotype - Abnormality of metabolism/homeostasis
Debug Stats
  • ### Total Build Time: 191 ms 60.938 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 212 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=0 Completed: 0 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= 443 bytes
  • CONCEPT_CHILDREN gt=22 ms Completed: 22 ms rowSize= 35.403 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 1.158 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=156 ms Completed: 156 ms rowSize= 22.561 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.031 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of metabolism/homeostasis HP:0001939
Parents (1)
img Phenotypic abnormality HP:0000118
Children (108)
img Prolonged G2 phase of cell cycle HP:0003214
img Abnormality of the coagulation cascade HP:0003256
img Abnormal dermatological laboratory findings HP:0003340
img Increased serum iron HP:0003452
img Abnormality of lysosomal metabolism HP:0004356
img Abnormality of lipid metabolism HP:0003119
img Orotic acid crystalluria HP:0003526
img Prolonged partial thromboplastin time HP:0003645
img Abnormality of amino acid metabolism HP:0004337
img Hyperbilirubinemia HP:0002904
img Abnormality of chromosome segregation HP:0002916
img Hyperglycemia HP:0003074
img Abnormal hematological laboratory findings HP:0003135
img Reduced orotidine 5-prime phosphate decarboxylase activity HP:0003267
img Abnormal hair laboratory examination HP:0003328
img Abnormality of urine homeostasis HP:0003110
img Myopathic changes on muscle biopsy HP:0003569
img Abnormality of glycoprotein metabolism HP:0004367
img Respiratory acidosis HP:0005972
img Intracellular accumulation of autofluorescent lipopigment storage material HP:0003204
img Propionyl-CoA carboxylase deficiency HP:0003353
img Abnormality of Krebs cycle metabolism HP:0000816
img Hypoproteinemia HP:0003075
img Hyperpepsinogenemia I HP:0003238
img Granular osmiophilic deposits (GROD) in cells HP:0003657
img Abnormality of carboxylic acid metabolism HP:0004354
img Fructose intolerance HP:0005973
img Abnormality of zinc homeostasis HP:0008277
img Abnormality of vitamin A metabolism HP:0008372
img Abnormality of calcium-phosphate metabolism HP:0100530
img Decreased pyruvate carboxylase activity HP:0003209
img Increased phosphoribosylpyrophosphate (PRPP) synthetase HP:0003240
img Molybdenum cofactor deficiency HP:0003570
img Abnormality of vitamin B metabolism HP:0004340
img Abnormality of nitrogen compound homeostasis HP:0004364
img Prolonged bleeding time HP:0003010
img Abnormal bone structure HP:0003330
img Phenylpyruvic acidemia HP:0004920
img Smooth muscle antibody positivity HP:0003262
img Increased serum ferritin HP:0003281
img Abnormal immunological laboratory finding HP:0003346
img Fibroblast metachromasia HP:0003610
img Abnormality of superoxide metabolism HP:0004358
img Abnormality of mitochondrial metabolism HP:0003287
img Ketosis HP:0001946
img Abnormal glucose tolerance HP:0001952
img Intolerance to protein HP:0001984
img Organic aciduria HP:0001992
img Delayed oxidation of acetaldehyde HP:0003533
img Increased total bilirubin HP:0003573
img Hyperproteinemia HP:0002152
img Recurrent myoglobinuria HP:0003652
img Abnormality of pyrimidine metabolism HP:0004353
img Galactose intolerance HP:0004919
img Abnormality of cell physiology HP:0011017
img Gangrene HP:0100758
img Abnormality of circulating protein level HP:0010876
img Abnormal liver function tests HP:0001411
img Ornithinuria HP:0003532
img Increased serum prostaglandin E2 HP:0003566
img Positive regitine blocking test HP:0003574
img Abnormality of glycoside metabolism HP:0003649
img Increased serum creatine kinase HP:0002147
img Glutaric acidemia HP:0003530
img Elevated erythrocyte sedimentation rate HP:0003565
img Positive ferric chloride test HP:0003612
img Abnormality of purine metabolism HP:0004352
img Impairment of galactose metabolism HP:0004915
img Hypoglycemia HP:0001943
img Abnormal isoelectric focusing of serum transferrin HP:0003160
img Hemoglobinuria HP:0003641
img Hypercalciuria HP:0002150
img Increased creatine kinase HP:0003078
img Abnormality of coagulation HP:0001928
img Parathormone-independent renal tubular calcium reabsorption defect HP:0003529
img Abnormality of alkaline phosphatase activity HP:0004379
img Abnormal cardiological findings HP:0003114
img Low plasma renin activity HP:0003263
img Propionicacidemia HP:0003571
img Abnormality of proteoglycan metabolism HP:0004355
img Amyloidosis HP:0011034
img Abnormal homeostasis HP:0012337
img Abnormality of nucleobase metabolism HP:0010932
img Dehydration HP:0001944
img Abnormality of ion homeostasis HP:0003111
img Increased cellular sensitivity to UV light HP:0003224
img Phosphoethanolaminuria HP:0003239
img Abnormality of magnesium homeostasis HP:0004921
img Generalized amyloid deposition HP:0003216
img Reduced iga levels HP:0008350
img Abnormality of circulating hormone level HP:0003117
img Increased serum serotonin HP:0003144
img Impaired gluconeogenesis HP:0005959
img Negative nitroblue tetrazolium (NBT) reduction test HP:0003203
img Elevated serum creatine phosphokinase HP:0003236
img Glutathione synthetase deficiency HP:0003343
img Abnormality of circulating leptin level HP:0004361
img Abnormality of temperature regulation HP:0004370
img Abnormality of glycosaminoglycan metabolism HP:0004371
img Hypoalbuminemia HP:0003073
img Abnormality of DNA repair HP:0003254
img Abnormality of acid-base homeostasis HP:0004360
img Abnormality of calcium homeostasis HP:0004363
img Abnormality of glycolysis HP:0004366
img Abnormality of carbohydrate metabolism/homeostasis HP:0011013
img Abnormality of vitamin metabolism HP:0100508
img Abnormality of fluid regulation HP:0011032
img Abnormality of the heme biosynthetic pathway HP:0010472
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001183img Phenotypic abnormality HP:0000118
Genes (2055)

Species:
human : 2055
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SpeciesGeneGeneIdGene NameEvidence
HumanSMAJ101241900Spinal muscular atrophy, Jokela type
img HP RolledUp, OMIM ID: 615048
HumanDUP16P11.2100909384
img HP RolledUp, OMIM ID: 614671
HumanDEL8Q12Q21100885787Bor-Duane hydrocephalus contiguous gene syndrome
img HP IEA, OMIM ID: 600257
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP RolledUp, OMIM ID: 614526
HumanDUPXQ27.3Q28100874533
img HP RolledUp, OMIM ID: 300869
HumanCATMANS100862706Catel-Manzke syndrome
HumanDEL17Q11.2100852404
img HP RolledUp, OMIM ID: 613675
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanSPGFX2100820759Spermatogenic failure, X-linked, 2
img HP IEA, OMIM ID: 309120
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
img HP RolledUp, OMIM ID: 252270
HumanGFND1100689213Glomerulopathy with fibronectin deposits 1
img HP RolledUp, OMIM ID: 137950
HumanMRT17100689013mental retardation, non-syndromic, autosomal recessive, 17
img HP RolledUp, OMIM ID: 614207
HumanIGAN2100653384IgA nephropathy, susceptibility to, 2
img HP RolledUp, OMIM ID: 613944
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
img HP RolledUp, OMIM ID: 613884
HumanMYMY4100653379Moyamoya disease 4
img HP RolledUp, OMIM ID: 300845
HumanSRXX210065337846XX sex reversal 2
img HP IEA, OMIM ID: 278850
HumanLGMD1H100529230limb girdle muscular dystrophy 1H (autosomal dominant)
img HP RolledUp, OMIM ID: 613530
HumanDUP17Q21.31100529226
img HP RolledUp, OMIM ID: 613533
HumanFWS100529224Forsythe-Wakeling syndrome
img HP RolledUp, OMIM ID: 613606
HumanIBD11100529151Inflammatory bowel disease 11
HumanDER22T11-22100529146
img HP IEA, OMIM ID: 609029
HumanDUP17Q23.1Q23.2100526743
img HP RolledUp, OMIM ID: 613618
HumanOCLN100506658occludin
img HP RolledUp, OMIM ID: 251290
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001939Abnormality of metabolism/homeostasis0self