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Details
Link-It Detail - Human Phenotype - Abnormality of lymphocytes
Debug Stats
  • ### Total Build Time: 42 ms 31.149 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 201 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 199 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=4 ms Completed: 4 ms rowSize= 781 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 3.409 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=8 ms Completed: 8 ms rowSize= 3.022 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 22.399 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of lymphocytes HP:0004332
Definition (1)
An abnormality of `lymphocytes` (CL:0000542).
Parents (2)
img Abnormality of the immune system HP:0002715
img Abnormality of leukocytes HP:0001881
Children (10)
img Vacuolated lymphocytes HP:0001922
img Lymphocytosis HP:0100827
img Impaired lymphocyte transformation with phytohemagglutinin HP:0003347
img Abnormality of B cells HP:0002846
img Defective lymphocyte apoptosis HP:0002731
img Absent microvilli on the surface of peripheral blood lymphocytes HP:0002971
img Lymphopenia HP:0001888
img Abnormality of T cells HP:0002843
img Reduced lymphocyte surface expression of CD43 (sialophorin) HP:0001983
img Abnormality of natural killer cells HP:0012176
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the immune system HP:0002715
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of leukocytes HP:0001881
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of leukocytes HP:0001881
Genes (225)

Species:
human : 225
Page Size
Current 25
  Page 1 of 9
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanDEL18Q100216483Chromosome 18q deletion syndrome
img HP RolledUp, OMIM ID: 601808
HumanSLEB5100188798Systemic lupus erythematosus, susceptibility to, 5
HumanWM1100188787Macroglobulinemia, Waldenstrom, susceptibility to, 1
img HP RolledUp, OMIM ID: 153600
HumanAA1100034700Alopecia areata 1
img HP RolledUp, OMIM ID: 104000
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
HumanMPDMRS574047Martin-Probst deafness-mental retardation syndrome
img HP RolledUp, OMIM ID: 300519
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
img HP RolledUp, OMIM ID: 609055
HumanSLEB4404714systemic lupus erythematosus, susceptibility to, 4
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img HP RolledUp, OMIM ID: 601675
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
img HP RolledUp, OMIM ID: 251110
HumanPTRF284119polymerase I and transcript release factor
img HP RolledUp, OMIM ID: 613327
HumanRAB40AL282808RAB40A, member RAS oncogene family-like
img HP RolledUp, OMIM ID: 300519
HumanELMOD2255520ELMO/CED-12 domain containing 2
img HP RolledUp, OMIM ID: 178500
HumanUNC13D201294unc-13 homolog D (C. elegans)
img HP RolledUp, OMIM ID: 608898
HumanKLHDC8B200942kelch domain containing 8B
img HP RolledUp, OMIM ID: 236000
HumanSLEH1170682systemic lupus erythematosus with hemolytic anemia 1
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
img HP RolledUp, OMIM ID: 251100
HumanRNF168165918ring finger protein 168, E3 ubiquitin protein ligase
img HP RolledUp, OMIM ID: 611943
HumanCCBE1147372collagen and calcium binding EGF domains 1
img HP RolledUp, OMIM ID: 235510
HumanCANDF1117084candidiasis, familial 1
img HP RolledUp, OMIM ID: 114580
HumanTNFRSF13C115650tumor necrosis factor receptor superfamily, member 13C
img HP RolledUp, OMIM ID: 613494
img HP RolledUp, OMIM ID: 240500
HumanERMAP114625erythroblast membrane-associated protein (Scianna blood group)
img HP RolledUp, OMIM ID: 111620
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004332Abnormality of lymphocytes0self