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Details
Link-It Detail - Disease - Elliptocytosis, Hereditary
Debug Stats
  • ### Total Build Time: 34 ms 17.771 KB
  • CONCEPT_NAME gt=16 ms Completed: 16 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 277 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=3 ms Completed: 3 ms rowSize= 565 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.853 KB
  • CONCEPT_RELATIONSHIPS gt=8 ms Completed: 8 ms rowSize= 11.024 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 1.351 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Elliptocytosis, Hereditary C0013902
Definition (1)
intrinsic defect of erythrocytes inherited as an autosomal dominant trait; erythrocytes assume an oval or elliptical shape.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Anemia, Hemolytic, Congenital C0002881
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189396img Anemia, Hemolytic, Congenital C0002881
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Anemia, Hemolytic, Congenital C0002881
Relationships (22)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 1
diso_​to_​diso : 15
diso_​to_​phen : 2


Relationships:
none : 5
classifies : 2
expanded_​form_​of : 1
is_​finding_​of_​disease : 1
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 4
mapped_​to : 6
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_PHEN15img genetic aspects C0017399
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_ANAT9img In Blood C0005768
DISO_to_CHEM9img AE1 Anion Exchanger C0242194
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg HEMOLYMPHORETICULAR TISSUE C1512398
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Hematopoietic and Lymphatic System C1512394
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Hematopoietic and Lymphoid Cell C1512385
DISO_to_DISOclassifiesimg Anemia NEC C0029744
DISO_to_DISOclassifiesimg Deficiency and other anemia C0154288
DISO_to_DISOmapped_toimg Elliptocytosis found C0427480
DISO_to_DISOexpanded_form_ofimg Elliptocytosis, Hereditary C0013902
DISO_to_DISOmapped_toimg Erythrocyte membrane abnormality C0398566
DISO_to_DISOis_finding_of_diseaseimg Hereditary Lesion C1708351
DISO_to_DISOisaimg Hereditary elliptocytosis due to abnormal protein 4.1 C0272044
DISO_to_DISOmapped_toimg Hereditary elliptocytosis due to alpha spectrin defect C0272040
DISO_to_DISOisaimg Hereditary elliptocytosis due to beta spectrin defect in self-association C0272041
DISO_to_DISOisaimg Hereditary elliptocytosis due to beta spectrin-ankyrin interaction C0272042
DISO_to_DISOmapped_toimg Hereditary elliptocytosis due to deficiency of protein 4.1 C0272043
DISO_to_DISOmapped_toimg Hereditary elliptocytosis due to glycophorin C deficiency C0272045
DISO_to_DISOisaimg Hereditary elliptocytosis with transient poikilocytosis C0398567
DISO_to_DISOmapped_toimg Hereditary pyropoikilocytosis C0520739
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanSPTA16708spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
img OMIM, Score=1000, UMLKSK CUI: C0013902
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0013902Elliptocytosis, Hereditary0self