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Details
Link-It Detail - Disease - Pallor
Debug Stats
  • ### Total Build Time: 28 ms 26.152 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 310 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 227 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= 184 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 555 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 1.527 KB
  • CONCEPT_RELATIONSHIPS gt=11 ms Completed: 11 ms rowSize= 9.273 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 12.930 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.141 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pallor C0030232
Definition (1)
A clinical manifestation consisting of an unnatural paleness of the skin.
Semantic Types (1)
Sign or Symptom (T184)
Parents (1)
img Skin Manifestations C0037285
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370884img Skin Manifestations C0037285
Relationships (22)

Relation Types:
diso_​to_​diso : 22


Relationships:
none : 3
associated_​with : 4
mapped_​to : 13
parent_​is_​cdrh : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO6img Anemia C0002871
DISO_to_DISO5img Anemia C0002871
DISO_to_DISO4img Fatigue C0015672
DISO_to_DISOmapped_toimg Black and blue C0332579
DISO_to_DISOassociated_withimg Congenital leuconychia C0266001
DISO_to_DISOmapped_toimg DERMATOPATHIA PIGMENTOSA RETICULARIS C0406778
DISO_to_DISOmapped_toimg ILR - Idiopathic livedo reticularis C0406507
DISO_to_DISOmapped_toimg Idiopathic livedo reticularis with summer ulceration C0406509
DISO_to_DISOmapped_toimg Idiopathic livedo reticularis with systemic involvement C0282492
DISO_to_DISOmapped_toimg Idiopathic livedo reticularis with winter ulceration C0406508
DISO_to_DISOmapped_toimg Livedo Reticularis C0085642
DISO_to_DISOmapped_toimg Neonatal cutis marmorata C1274285
DISO_to_DISOmapped_toimg O/E - color pale C0475098
DISO_to_DISOmapped_toimg Pale - symptom C0554990
DISO_to_DISOassociated_withimg Pale liver C0685934
DISO_to_DISOassociated_withimg Pale lung C0684912
DISO_to_DISOassociated_withimg Pale spleen C0686533
DISO_to_DISOpermuted_term_ofimg Pallor C0030232
DISO_to_DISOparent_is_cdrhimg Patient Problem C1254481
DISO_to_DISOmapped_toimg Patient observed to be pale C0678215
DISO_to_DISOmapped_toimg Physiological cutis marmorata C1274284
DISO_to_DISOmapped_toimg White extremities C0424735
Genes (13)

Species:
human : 13
SpeciesGeneGeneIdGene NameEvidence
HumanDBA2114086Diamond-Blackfan anemia 2
img OMIM, Score=833, UMLKSK CUI: C0030232
HumanPUS180324pseudouridylate synthase 1
img OMIM, Score=1000, UMLKSK CUI: C0030232
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0030232
HumanALS257679amyotrophic lateral sclerosis 2 (juvenile)
img OMIM, Score=1000, UMLKSK CUI: C0030232
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
img OMIM, Score=1000, UMLKSK CUI: C0030232
HumanSETX23064senataxin
img OMIM, Score=1000, UMLKSK CUI: C0030232
HumanDKK122943dickkopf WNT signaling pathway inhibitor 1
img GENERIF, Score=966, Pubmed Id: 17159916, UMLKSK CUI: C0030232
img GENERIF, Score=966, Pubmed Id: 17984176, UMLKSK CUI: C0030232
HumanSNCA6622synuclein, alpha (non A4 component of amyloid precursor)
img GENERIF, Score=660, Pubmed Id: 14692700, UMLKSK CUI: C0030232
HumanRPS196223ribosomal protein S19
img OMIM, Score=833, UMLKSK CUI: C0030232
HumanMGP4256matrix Gla protein
img OMIM, Score=1000, UMLKSK CUI: C0030232
HumanHEXA3073hexosaminidase A (alpha polypeptide)
img OMIM, Score=833, UMLKSK CUI: C0030232
HumanFANCA2175Fanconi anemia, complementation group A
img OMIM, Score=833, UMLKSK CUI: C0030232
HumanNR0B1190nuclear receptor subfamily 0, group B, member 1
img OMIM, Score=833, UMLKSK CUI: C0030232
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0030232Pallor0self