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Details
Link-It Detail - Human Phenotype - Abnormal hematological laboratory findings
Debug Stats
  • ### Total Build Time: 31 ms 29.590 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 217 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
  • CONCEPT_NAMESPACE gt=0 Completed: 0 ms rowSize= 168 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 458 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 3.330 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.173 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 23.083 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.036 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal hematological laboratory findings HP:0003135
Namespace (1)
medical_genetics
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (10)
img Reticulocytosis HP:0001923
img Foam cells HP:0003651
img Cellular metachromasia HP:0003653
img Pyrimidine-responsive megaloblastic anemia HP:0003339
img Thrombocytopenia HP:0001873
img Giant platelets HP:0001902
img Prolonged whole-blood clotting time in severe hemophilia HP:0003229
img Elevated intracellular cystine HP:0003358
img Decreased hemoglobin HP:0003136
img Impaired platelet aggregation HP:0003540
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (225)

Species:
human : 225
Page Size
Current 25
  Page 1 of 9
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
img HP RolledUp, OMIM ID: 252270
HumanFWS100529224Forsythe-Wakeling syndrome
img HP RolledUp, OMIM ID: 613606
HumanOCLN100506658occludin
img HP RolledUp, OMIM ID: 251290
HumanATPLS100499532antiphospholipid syndrome, familial
img HP RolledUp, OMIM ID: 107320
HumanSLEB5100188798Systemic lupus erythematosus, susceptibility to, 5
img HP RolledUp, OMIM ID: 152700
HumanAUNX1751798auditory neuropathy, X-linked recessive 1
img HP RolledUp, OMIM ID: 300614
HumanMPDMRS574047Martin-Probst deafness-mental retardation syndrome
img HP RolledUp, OMIM ID: 300519
HumanCISD2493856CDGSH iron sulfur domain 2
img HP RolledUp, OMIM ID: 604928
HumanSLEB4404714systemic lupus erythematosus, susceptibility to, 4
img HP RolledUp, OMIM ID: 152700
HumanLCRB387281locus control region, beta
img HP RolledUp, OMIM ID: 613985
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
img HP RolledUp, OMIM ID: 251110
HumanRAB40AL282808RAB40A, member RAS oncogene family-like
img HP RolledUp, OMIM ID: 300519
HumanSTOX1219736storkhead box 1
img HP RolledUp, OMIM ID: 189800
HumanSLEH1170682systemic lupus erythematosus with hemolytic anemia 1
img HP RolledUp, OMIM ID: 152700
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
img HP RolledUp, OMIM ID: 251100
HumanTCPT140892thrombocytopenia, Paris-Trousseau type
img HP RolledUp, OMIM ID: 188025
HumanHGSNAT138050heparan-alpha-glucosaminide N-acetyltransferase
img HP RolledUp, OMIM ID: 252930
HumanDBA2114086Diamond-Blackfan anemia 2
img HP RolledUp, OMIM ID: 105650
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanSLC46A1113235solute carrier family 46 (folate transporter), member 1
img HP RolledUp, OMIM ID: 229050
HumanG6PC392579glucose 6 phosphatase, catalytic, 3
img HP RolledUp, OMIM ID: 612541
HumanMASTL84930microtubule associated serine/threonine kinase-like
img HP RolledUp, OMIM ID: 188000
HumanRNASEH2C84153ribonuclease H2, subunit C
img HP RolledUp, OMIM ID: 610329
HumanDTNBP184062dystrobrevin binding protein 1
img HP RolledUp, OMIM ID: 614076
HumanCTC180169CTS telomere maintenance complex component 1
img HP RolledUp, OMIM ID: 612199
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003135Abnormal hematological laboratory findings0self