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Details
Link-It Detail - Disease - Anemia, Dyserythropoietic, Congenital
Debug Stats
  • ### Total Build Time: 100 ms 21.292 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 372 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 562 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=2 ms Completed: 2 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=13 ms Completed: 13 ms rowSize= 565 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=25 ms Completed: 25 ms rowSize= 2.853 KB
  • CONCEPT_RELATIONSHIPS gt=28 ms Completed: 28 ms rowSize= 8.546 KB
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 7.040 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.171 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Anemia, Dyserythropoietic, Congenital C0002876
Definition (1)
A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.
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 (16)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 1
diso_​to_​diso : 7
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 8
entry_​version_​of : 1
is_​associated_​anatomic_​site_​of : 1
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 3
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN26img genetic aspects C0017399
DISO_to_PHEN24img genetic aspects C0017399
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_PHYS12img Mutation C0026882
DISO_to_ANAT10img In Blood C0005768
DISO_to_ANAT9img In Blood C0005768
DISO_to_CHEM7img Transport Proteins, Vesicular C1135986
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg HEMOLYMPHORETICULAR TISSUE C1512398
DISO_to_ANATis_associated_anatomic_site_ofimg Hematopoietic and Lymphatic System C1512394
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Hematopoietic and Lymphoid Cell C1512385
DISO_to_DISOentry_version_ofimg Anemia, Dyserythropoietic, Congenital C0002876
DISO_to_DISOmapped_toimg CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS, CONGENITAL DYSERYTHROPOIETIC ANEMIA, AND NEUTROPHILIC DERMATOSIS C1864997
DISO_to_DISOisaimg Congenital dyserythropoietic anemia, type I C0271933
DISO_to_DISOisaimg Congenital dyserythropoietic anemia, type II C1306589
DISO_to_DISOisaimg Congenital dyserythropoietic anemia, type III C0271934
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanCDAN1146059codanin 1
img GENERIF, Score=756, Pubmed Id: 18575862, UMLKSK CUI: C0002876
HumanGATA12623GATA binding protein 1 (globin transcription factor 1)
img GENERIF, Score=1000, Pubmed Id: 17713552, UMLKSK CUI: C0002876
img GENERIF, Score=694, Pubmed Id: 14744791, UMLKSK CUI: C0002876
HumanERCC22068excision repair cross-complementing rodent repair deficiency, complementation group 2
img GENERIF, Score=1000, Pubmed Id: 18347182, UMLKSK CUI: C0002876
HumanCDA978cytidine deaminase
img GENERIF, Score=1000, Pubmed Id: 17479107, UMLKSK CUI: C0002876
img GENERIF, Score=1000, Pubmed Id: 16446974, UMLKSK CUI: C0002876
img GENERIF, Score=827, Pubmed Id: 18347182, UMLKSK CUI: C0002876
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002876Anemia, Dyserythropoietic, Congenital0self