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Details
Link-It Detail - Disease - Congenital Abnormalities
Debug Stats
  • ### Total Build Time: 63 ms 44.771 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 398 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 220 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 599 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 7.483 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.193 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 15.061 KB
  • CONCEPT_GENES gt=57 ms Completed: 57 ms rowSize= 18.474 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Congenital Abnormalities C0000768
Congenital Abnormality
Definition (1)
Malformations of organs or body parts during development in utero.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612
Children (17)
img Abnormalities, Multiple C0000772
img Abnormalities, Radiation-Induced C0000773
img Urogenital Abnormalities C0042063
img Abnormalities, Drug-Induced C0000771
img Lymphatic Abnormalities C0398368
img Musculoskeletal Abnormalities C0151491
img Situs Inversus C0037221
img Cardiovascular Abnormalities C0243050
img Nervous System Malformations C0497552
img Respiratory System Abnormalities C0035238
img Chromosome Disorders C0008626
img Thyroid Dysgenesis C1563716
img Skin Abnormalities C0037268
img Eye Abnormalities C0015393
img Digestive System Abnormalities C0266015
img Stomatognathic System Abnormalities C0243057
img Abnormalities, Severe Teratoid C2713367
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C00276122img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612
Relationships (1105)

Relation Types:
diso_​to_​anat : 11
diso_​to_​chem : 125
diso_​to_​diso : 961
diso_​to_​phen : 2
diso_​to_​phys : 6


Relationships:
none : 86
associated_​with : 465
classifies : 2
disease_​excludes_​finding : 1
disease_​has_​finding : 1
has_​cdrh_​parent : 2
isa : 483
mapped_​to : 57
parent_​is_​cdrh : 1
related_​to : 7
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN236img genetic aspects C0017399
DISO_to_PHEN147img genetic aspects C0017399
DISO_to_DISO69img Pregnancy Complications C0032962
DISO_to_DISO61img DISORDER FETAL C0015929
DISO_to_DISO55img DISORDER FETAL C0015929
DISO_to_DISO48img OUTCOME PREGN C0032972
DISO_to_DISO40img Pregnancy in Diabetics C0032969
DISO_to_DISO39img Pregnancy Complications C0032962
DISO_to_DISO37img OUTCOME PREGN C0032972
DISO_to_ANAT32img Fetus C0015965
DISO_to_DISO32img Pregnancy in Diabetics C0032969
DISO_to_DISO30img Maternal Exposure C0243033
DISO_to_DISO29img Chromosome Aberrations C0008625
DISO_to_DISO28img Abnormalities, Multiple C0000772
DISO_to_CHEM26img Folic Acid C0016410
DISO_to_DISO24img Neoplasms C0027651
DISO_to_DISO24img Premature Birth C0151526
DISO_to_ANAT23img Fetus C0015965
DISO_to_DISO23img COMPL PREGN INFECT C0032965
DISO_to_DISO23img DELAYED EFF PRENATAL EXPOSURE C0033054
DISO_to_DISO23img Environmental Exposure C0014412
DISO_to_DISO22img Disease, Inborn Genetic C0950123
DISO_to_DISO22img Obesity C0028754
DISO_to_DISO20img Disease, Inborn Genetic C0950123
DISO_to_DISO18img ABNORM DRUG IND C0000771
Genes (1032)

Species:
human : 1032
Page Size
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanOCTN3100049579organic cation transporter 3
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanNCF1653361neutrophil cytosolic factor 1
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanPALM2-AKAP2445815
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanGDF6392255growth differentiation factor 6
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanKRTAP5-1387264
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanTRIM74378108tripartite motif containing 74
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanFREM2341640FRAS1 related extracellular matrix protein 2
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanVSX2338917visual system homeobox 2
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanSNORD115-1338433
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanFAM83H286077family with sequence similarity 83, member H
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanSUMF1285362sulfatase modifying factor 1
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanRSPO1284654R-spondin 1
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanTSEN54283989TSEN54 tRNA splicing endonuclease subunit
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanNPAS4266743neuronal PAS domain protein 4
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanASPM259266asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanPCSK9255738proprotein convertase subtilisin/kexin type 9
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanBRWD3254065bromodomain and WD repeat domain containing 3
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanHIST1H2AA221613histone cluster 1, H2aa
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanRASGEF1A221002RasGEF domain family, member 1A
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanHYLS1219844hydrolethalus syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0000768
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
INFERRED, Score=800, UMLKSK CUI: C0000768
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0000768Congenital Abnormalities0self