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Details
Link-It Detail - Disease - Anemia, Diamond-Blackfan
Debug Stats
  • ### Total Build Time: 94 ms 34.310 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 485 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=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 1,007 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=16 ms Completed: 16 ms rowSize= 4.141 KB
  • CONCEPT_RELATIONSHIPS gt=50 ms Completed: 50 ms rowSize= 13.503 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 13.494 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Anemia, Diamond-Blackfan C1260899
Definition (1)
A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Anemia, Hypoplastic, Congenital C0949116
img Red-Cell Aplasia, Pure C0034902
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189396img Anemia, Hypoplastic, Congenital C0949116
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Anemia, Hypoplastic, Congenital C0949116
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img Red-Cell Aplasia, Pure C0034902
Relationships (70)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 2
diso_​to_​diso : 62
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 10
alias_​of : 2
manifestation_​of : 54
mapped_​to : 2
permuted_​term_​of : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN85img genetic aspects C0017399
DISO_to_CHEM55img Ribosomal Proteins C0035552
DISO_to_PHEN29img genetic aspects C0017399
DISO_to_CHEM17img Ribosomal Proteins C0035552
DISO_to_PHYS17img Mutation C0026882
DISO_to_DISO14img Complication Aspects C1171258
DISO_to_ANAT13img Ribosomes C0035553
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_PHYS10img Mutation C0026882
DISO_to_ANAT9img In Blood C0005768
DISO_to_DISOmanifestation_ofimg 11 pairs of ribs C1839731
DISO_to_DISOmanifestation_ofimg 40% patients have associated abnormalities C2751490
DISO_to_DISOalias_ofimg Aase Smith syndrome 2 C2931850
DISO_to_DISOalias_ofimg Aase syndrome C0265265
DISO_to_DISOmanifestation_ofimg Abnormally short neck C0521525
DISO_to_DISOmanifestation_ofimg Absence of the thumbs C0241391
DISO_to_DISOmanifestation_ofimg Absent radial pulse C0577854
DISO_to_DISOmanifestation_ofimg Age at diagnosis 2-4 months C2751489
DISO_to_DISOmanifestation_ofimg Agenesis of clavicle C0345349
DISO_to_DISOpermuted_term_ofimg Anemia, Diamond-Blackfan C1260899
DISO_to_DISOmapped_toimg Anemia, Diamond-Blackfan, 2 C1853666
DISO_to_DISOmapped_toimg Anemia, Diamond-Blackfan, 3 C1857719
DISO_to_DISOmanifestation_ofimg Anemia, congenital hypoplastic, moderate-severe (normochromic, macrocytic) C2751483
DISO_to_DISOmanifestation_ofimg Aortic Coarctation C0003492
DISO_to_DISOmanifestation_ofimg Atrial septal defect ICD10CM:Q21.1 C3276093
Genes (9)

Species:
human : 9
SpeciesGeneGeneIdGene NameEvidence
HumanSBDS51119Shwachman-Bodian-Diamond syndrome
img GENERIF, Score=1000, Pubmed Id: 16529906, UMLKSK CUI: C1260899
HumanFLVCR128982feline leukemia virus subgroup C cellular receptor 1
img GENERIF, Score=1000, Pubmed Id: 15996880, UMLKSK CUI: C1260899
img GENERIF, Score=1000, Pubmed Id: 18815190, UMLKSK CUI: C1260899
HumanTHPO7066thrombopoietin
img GENERIF, Score=1000, Pubmed Id: 12041668, UMLKSK CUI: C1260899
HumanRPS246229ribosomal protein S24
img GENERIF, Score=756, Pubmed Id: 18230666, UMLKSK CUI: C1260899
HumanRPS196223ribosomal protein S19
img GENERIF, Score=1000, Pubmed Id: 18768533, UMLKSK CUI: C1260899
img GENERIF, Score=1000, Pubmed Id: 17178250, UMLKSK CUI: C1260899
img GENERIF, Score=717, Pubmed Id: 17517689, UMLKSK CUI: C1260899
img GENERIF, Score=884, Pubmed Id: 17962699, UMLKSK CUI: C1260899
img GENERIF, Score=717, Pubmed Id: 18412286, UMLKSK CUI: C1260899
HumanRPS176218ribosomal protein S17
img GENERIF, Score=1000, Pubmed Id: 17647292, UMLKSK CUI: C1260899
HumanRPL35A6165ribosomal protein L35a
img GENERIF, Score=717, Pubmed Id: 18535205, UMLKSK CUI: C1260899
HumanRPL116135ribosomal protein L11
img GENERIF, Score=756, Pubmed Id: 19061985, UMLKSK CUI: C1260899
HumanRPL56125ribosomal protein L5
img GENERIF, Score=756, Pubmed Id: 19061985, UMLKSK CUI: C1260899
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1260899Anemia, Diamond-Blackfan0self