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Details
Link-It Detail - Human Phenotype - Abnormality of cellular immune system
Debug Stats
  • ### Total Build Time: 31 ms 21.274 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 212 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 254 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= 453 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 776 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.168 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 17.275 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.031 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of cellular immune system HP:0010987
Definition (1)
An abnormality of the morphology or counts of the cells that make up the `immune system` (FMA:9825).
Parents (1)
img Abnormality of the immune system HP:0002715
Children (2)
img Abnormality of mast cells HP:0100494
img Abnormality of leukocytes HP:0001881
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the immune system HP:0002715
Genes (368)

Species:
human : 368
Page Size
Current 25
  Page 1 of 15
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
HumanALL1100310785Leukemia, acute lymphocytic, susceptibility to, 1
img HP RolledUp, OMIM ID: 613065
HumanDEL18Q100216483Chromosome 18q deletion syndrome
HumanSLEB5100188798Systemic lupus erythematosus, susceptibility to, 5
HumanWM1100188787Macroglobulinemia, Waldenstrom, susceptibility to, 1
HumanAA1100034700Alopecia areata 1
img HP RolledUp, OMIM ID: 104000
HumanNKCD780917Natural killer cell deficiency, familial isolated
img HP RolledUp, OMIM ID: 609981
HumanSFTPA2729238surfactant protein A2
HumanMUC5B727897mucin 5B, oligomeric mucus/gel-forming
HumanSFTPA1653509surfactant protein A1
HumanNCF1653361neutrophil cytosolic factor 1
img HP RolledUp, OMIM ID: 233700
HumanMPDMRS574047Martin-Probst deafness-mental retardation syndrome
img HP RolledUp, OMIM ID: 300519
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
HumanMIR16-1406950
HumanSLEB4404714systemic lupus erythematosus, susceptibility to, 4
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
HumanSUMF1285362sulfatase modifying factor 1
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
HumanUNC13D201294unc-13 homolog D (C. elegans)
img HP RolledUp, OMIM ID: 608898
HumanKLHDC8B200942kelch domain containing 8B
HumanSLEH1170682systemic lupus erythematosus with hemolytic anemia 1
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010987Abnormality of cellular immune system0self