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Details
Link-It Detail - Human Phenotype - Abnormality of macrophages
Debug Stats
  • ### Total Build Time: 26 ms 23.209 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 201 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= 789 bytes
  • CONCEPT_CHILDREN gt=9 ms Completed: 9 ms rowSize= 2.368 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.038 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 15.671 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 macrophages HP:0004311
Parents (2)
img Abnormality of the immune system HP:0002715
img Abnormality of myeloid leukocytes HP:0010974
Children (7)
img Bone-marrow foam cells HP:0004333
img Absence of bactericidal oxidative 'respiratory burst' in phagocytes HP:0002723
img Sea-blue histiocytosis HP:0001982
img Histiocystosis HP:0100727
img Granulomatosis HP:0002955
img Abnormality of histiocytes HP:0004310
img Hemophagocytosis HP:0012156
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:00001186img Abnormality of myeloid leukocytes HP:0010974
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of myeloid leukocytes HP:0010974
Genes (19)

Species:
human : 19
SpeciesGeneGeneIdGene NameEvidence
HumanNCF1653361neutrophil cytosolic factor 1
img HP RolledUp, OMIM ID: 233700
HumanUNC13D201294unc-13 homolog D (C. elegans)
img HP RolledUp, OMIM ID: 608898
HumanNOD264127nucleotide-binding oligomerization domain containing 2
img HP RolledUp, OMIM ID: 609464
HumanHPLH127259hemophagocytic lymphohistiocytosis 1
img HP RolledUp, OMIM ID: 267700
HumanNPC210577Niemann-Pick disease, type C2
img HP RolledUp, OMIM ID: 607625
HumanSLC7A79056solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
img HP RolledUp, OMIM ID: 222700
HumanSTX118676syntaxin 11
img HP RolledUp, OMIM ID: 603552
HumanSTXBP26813syntaxin binding protein 2
img HP RolledUp, OMIM ID: 613101
HumanSMPD16609sphingomyelin phosphodiesterase 1, acid lysosomal
img HP RolledUp, OMIM ID: 607616
img HP RolledUp, OMIM ID: 257200
HumanPRF15551perforin 1 (pore forming protein)
img HP RolledUp, OMIM ID: 603553
HumanNPC14864Niemann-Pick disease, type C1
img HP RolledUp, OMIM ID: 257220
HumanNEU14758sialidase 1 (lysosomal sialidase)
img HP RolledUp, OMIM ID: 256550
HumanNCF24688neutrophil cytosolic factor 2
img HP RolledUp, OMIM ID: 233710
HumanLIPA3988lipase A, lysosomal acid, cholesterol esterase
img HP RolledUp, OMIM ID: 278000
HumanGLB12720galactosidase, beta 1
img HP RolledUp, OMIM ID: 230600
HumanCYBB1536cytochrome b-245, beta polypeptide
img HP RolledUp, OMIM ID: 306400
HumanCYBA1535cytochrome b-245, alpha polypeptide
img HP RolledUp, OMIM ID: 233690
HumanCD27939CD27 molecule
img HP RolledUp, OMIM ID: 615122
HumanXIAP331X-linked inhibitor of apoptosis
img HP RolledUp, OMIM ID: 300635
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004311Abnormality of macrophages0self