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Details
Link-It Detail - Disease - Platelet Storage Pool Deficiency
Debug Stats
  • ### Total Build Time: 32 ms 24.880 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 362 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 304 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1.411 KB
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 563 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.091 KB
  • CONCEPT_RELATIONSHIPS gt=13 ms Completed: 13 ms rowSize= 8.645 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 8.156 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.166 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Platelet Storage Pool Deficiency C0032197
Definition (1)
Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Hemorrhagic Disorders C0019087
img Blood Coagulation Disorders C0005779
img Blood Platelet Disorders C0005818
Children (1)
img Hermanski-Pudlak Syndrome C0079504
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Hemorrhagic Disorders C0019087
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Blood Coagulation Disorders C0005779
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Blood Platelet Disorders C0005818
Relationships (19)

Relation Types:
diso_​to_​anat : 4
diso_​to_​diso : 14
diso_​to_​phen : 1


Relationships:
none : 5
isa : 5
manifestation_​of : 8
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT10img Blood Platelets C0005821
DISO_to_ANAT7img In Blood C0005768
DISO_to_PHEN7img genetic aspects C0017399
DISO_to_ANAT5img Blood Platelets C0005821
DISO_to_DISO5img Complication Aspects C1171258
DISO_to_ANATmanifestation_ofimg Small platelets C1148413
DISO_to_DISOmanifestation_ofimg Absent dense bodies in platelets C1859918
DISO_to_DISOmanifestation_ofimg Aquired delta-SPD seen in myeloproliferative disorders, myelodysplasia, and acute leukemia C2674197
DISO_to_DISOisaimg Chediak-Higashi Syndrome C0007965
DISO_to_DISOisaimg Gray Platelet Syndrome C0272302
DISO_to_DISOisaimg Hermanski-Pudlak Syndrome C0079504
DISO_to_DISOmanifestation_ofimg Impaired release of platelet adenosine diphosphate (ADP) C2674195
DISO_to_DISOmanifestation_ofimg Mild to moderate bleeding tendencies C2674194
DISO_to_DISOmanifestation_ofimg Mild-moderate prolonged bleeding time C2674193
DISO_to_DISOisaimg Mixed alpha granule and dense body deficiency C1264034
DISO_to_DISOpermuted_term_ofimg Platelet Storage Pool Deficiency C0032197
DISO_to_DISOmanifestation_ofimg Platelet aggregation decreased C2745995
DISO_to_DISOmanifestation_ofimg Syndromic forms of dense granule only platelet storage pool deficiencies (delta-SPD) include Hermansky-Pudlak syndrome (203300) and Chediak-Hygashi syndrome (214500) C2674196
DISO_to_DISOisaimg Wiskott-Aldrich Syndrome C0043194
Genes (12)

Species:
human : 12
SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
INFERRED, Score=800, UMLKSK CUI: C0032197
HumanHPS384343Hermansky-Pudlak syndrome 3
INFERRED, Score=800, UMLKSK CUI: C0032197
HumanVPS33A65082vacuolar protein sorting 33 homolog A (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0032197
HumanSLC45A251151solute carrier family 45, member 2
INFERRED, Score=800, UMLKSK CUI: C0032197
HumanRAB3823682RAB38, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0032197
HumanABCC410257ATP-binding cassette, sub-family C (CFTR/MRP), member 4
INFERRED, Score=800, UMLKSK CUI: C0032197
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
img GENERIF, Score=1000, Pubmed Id: 11809908, UMLKSK CUI: C0032197
HumanTYRP17306tyrosinase-related protein 1
INFERRED, Score=800, UMLKSK CUI: C0032197
HumanTYR7299tyrosinase
INFERRED, Score=800, UMLKSK CUI: C0032197
HumanOCA24948oculocutaneous albinism II
INFERRED, Score=800, UMLKSK CUI: C0032197
HumanMC1R4157melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
INFERRED, Score=800, UMLKSK CUI: C0032197
HumanHPS13257Hermansky-Pudlak syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0032197
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0032197Platelet Storage Pool Deficiency0self