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Details
Link-It Detail - Disease - Antithrombin III Deficiency
Debug Stats
  • ### Total Build Time: 36 ms 30.554 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 412 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=6 ms Completed: 6 ms rowSize= 1.413 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.430 KB
  • CONCEPT_RELATIONSHIPS gt=16 ms Completed: 16 ms rowSize= 13.101 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 8.484 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Antithrombin III Deficiency C0272375
Definition (1)
A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Thrombophilia C0398623
img Blood Protein Disorders C0005830
img Blood Coagulation Disorders, Inherited C0852077
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Thrombophilia C0398623
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Blood Protein Disorders C0005830
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Blood Coagulation Disorders, Inherited C0852077
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img Blood Coagulation Disorders, Inherited C0852077
Relationships (27)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 7
diso_​to_​diso : 17
diso_​to_​phen : 2


Relationships:
none : 9
isa : 2
manifestation_​of : 10
may_​treat : 5
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO39img Complication Aspects C1171258
DISO_to_PHEN37img genetic aspects C0017399
DISO_to_DISO22img Complication Aspects C1171258
DISO_to_CHEM21img Antithrombin III C0003438
DISO_to_DISO15img Venous Thrombosis C0042487
DISO_to_PHEN14img genetic aspects C0017399
DISO_to_ANAT12img In Blood C0005768
DISO_to_DISO11img Venous Thromboembolism C1861172
DISO_to_CHEM10img Antithrombin III C0003438
DISO_to_CHEMmay_treatimg ANTITHROMBIN III (HUM PLAS) 1,000 (+/-) unit INTRAVEN. VIAL (SDV,MDV OR ADDITIVE) (EA) C2343737
DISO_to_CHEMmay_treatimg ANTITHROMBIN III,RECOMB 1750UNT/VIL INJ C2315478
DISO_to_CHEMmay_treatimg ANTITHROMBIN III,RECOMBINANT C2684100
DISO_to_CHEMmay_treatimg Antithrombin III C0003438
DISO_to_CHEMmay_treatimg Antithrombin III, Human C0724532
DISO_to_DISOpermuted_term_ofimg Antithrombin III Deficiency C0272375
DISO_to_DISOmanifestation_ofimg Arterial occlusion rare C1862822
DISO_to_DISOmanifestation_ofimg CEREBRAL VENOUS THROMBOSIS C0151945
DISO_to_DISOmanifestation_ofimg Caused by mutation in the antithrombin III gene (AT3, 107300.0001) C2676108
DISO_to_DISOmanifestation_ofimg Deep Vein Thrombosis C0149871
DISO_to_DISOisaimg Hereditary antithrombin III deficiency C2586031
DISO_to_DISOmanifestation_ofimg Mesenteric thrombosis C0267412
DISO_to_DISOmanifestation_ofimg Pulmonary Embolism C0034065
DISO_to_DISOmanifestation_ofimg Recurrent thrombophlebitis (e.g. homozygous 107300.0008 AT-III TOYAMA) C1862821
DISO_to_DISOisaimg Thrombophilia due to acquired antithrombin III deficiency C2585363
DISO_to_DISOmanifestation_ofimg Type I, classic, decreased antithrombin III levels C1862819
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanDPM18813dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
img OMIM, Score=1000, UMLKSK CUI: C0272375
HumanPROS15627protein S (alpha)
img GENERIF, Score=901, Pubmed Id: 18824642, UMLKSK CUI: C0272375
HumanPROC5624protein C (inactivator of coagulation factors Va and VIIIa)
img GENERIF, Score=901, Pubmed Id: 18824642, UMLKSK CUI: C0272375
HumanPMM25373phosphomannomutase 2
img OMIM, Score=1000, UMLKSK CUI: C0272375
HumanSERPINC1462serpin peptidase inhibitor, clade C (antithrombin), member 1
img GENERIF, Score=901, Pubmed Id: 18208532, UMLKSK CUI: C0272375
img GENERIF, Score=861, Pubmed Id: 17492649, UMLKSK CUI: C0272375
img GENERIF, Score=1000, Pubmed Id: 17244682, UMLKSK CUI: C0272375
img GENERIF, Score=673, Pubmed Id: 11686316, UMLKSK CUI: C0272375
img GENERIF, Score=1000, Pubmed Id: 16705712, UMLKSK CUI: C0272375
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0272375Antithrombin III Deficiency0self