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Details
Link-It Detail - Disease - Respiratory System Abnormalities
Debug Stats
  • ### Total Build Time: 389 ms 37.682 KB
  • CONCEPT_NAME gt=17 ms Completed: 17 ms rowSize= 458 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 216 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=39 ms Completed: 39 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=58 ms Completed: 58 ms rowSize= 1,004 bytes
  • CONCEPT_CHILDREN gt=25 ms Completed: 25 ms rowSize= 3.565 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.847 KB
  • CONCEPT_RELATIONSHIPS gt=226 ms Completed: 226 ms rowSize= 13.657 KB
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 14.539 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.166 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Respiratory System Abnormalities C0035238
4-20 CONGENITAL ANOMALIES OF THE RESPIRATORY SYSTEM: GENERAL TERMS
Definition (1)
Congenital structural abnormalities of the respiratory system.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Congenital Abnormalities C0000768
img Respiratory Tract Diseases C0035242
Children (8)
img Choanal Atresia C0008297
img Bronchogenic Cyst C0006281
img Cystic Adenomatoid Malformation of Lung, Congenital C0010668
img Tracheobronchomegaly C0040587
img Bronchopulmonary Sequestration C0006288
img Kartagener Syndrome C0022521
img Laryngostenosis C0023075
img Scimitar Syndrome C0036400
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007683img Congenital Abnormalities C0000768
img Respiratory Tract Diseases C0035242img Congenital Abnormalities C00007682img Respiratory Tract Diseases C0035242
Relationships (118)

Relation Types:
diso_​to_​anat : 5
diso_​to_​diso : 111
diso_​to_​phen : 2


Relationships:
none : 12
associated_​with : 1
classifies : 2
isa : 97
location_​of : 1
mapped_​to : 4
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT18img Lung C0024109
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_ANAT10img Bronchi C0006255
DISO_to_PHEN10img genetic aspects C0017399
DISO_to_ANAT9img Lung C0024109
DISO_to_DISO8img Disease, Equine C0019940
DISO_to_ANAT7img Bronchi C0006255
DISO_to_DISO7img Diaphragmatic Hernia C0019284
DISO_to_DISO7img Disease, Equine C0019940
DISO_to_DISO7img Hernia, Diaphragmatic C0019284
DISO_to_PHEN7img Animal Physical Conditioning C0031802
DISO_to_ANATlocation_ofimg Respiratory System C0035237
DISO_to_DISOpermuted_term_ofimg 4-20 CONGENITAL ANOMALIES OF THE RESPIRATORY SYSTEM: GENERAL TERMS C0035238
DISO_to_DISOisaimg APVC - Anomalous pulmonary venous connection C0265916
DISO_to_DISOisaimg Abnormal origin of pulmonary artery C0265912
DISO_to_DISOisaimg Absence of bronchus C0265775
DISO_to_DISOisaimg Absence of the pulmonary artery C0265905
DISO_to_DISOisaimg Absence of uvula C0266121
DISO_to_DISOisaimg Absence or agenesis of larynx C1261566
DISO_to_DISOisaimg Accessory lower respiratory tract structure C0546279
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOisaimg Alveolar capillary dysplasia with pulmonary venous misalignment C2960310
DISO_to_DISOisaimg Anomalies of pulmonary artery, congenital C0009681
DISO_to_DISOisaimg Anomalous pulmonary vein C0265914
Genes (24)

Species:
human : 24
SpeciesGeneGeneIdGene NameEvidence
HumanDNAL183544dynein, axonemal, light chain 1
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanDNAI264446dynein, axonemal, intermediate chain 2
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanSALL457167sal-like 4 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanFAM20C56975family with sequence similarity 20, member C
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanDNAH756171dynein, axonemal, heavy chain 7
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanCHD755636chromodomain helicase DNA binding protein 7
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanTXNDC351314
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanDNAI127019dynein, axonemal, intermediate chain 1
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanDPCD25911deleted in primary ciliary dyskinesia homolog (mouse)
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanZMPSTE2410269zinc metallopeptidase STE24
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanDNAH118701dynein, axonemal, heavy chain 11
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanTP638626tumor protein p63
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanWNT37473wingless-type MMTV integration site family, member 3
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanSHH6469sonic hedgehog
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanPTH1R5745parathyroid hormone 1 receptor
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanPOR5447P450 (cytochrome) oxidoreductase
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanNBN4683nibrin
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanLMNA4000lamin A/C
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanFOXE12304forkhead box E1 (thyroid transcription factor 2)
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanFGFR22263fibroblast growth factor receptor 2
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanFGFR12260fibroblast growth factor receptor 1
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanDNAH51767dynein, axonemal, heavy chain 5
INFERRED, Score=800, UMLKSK CUI: C0035238
HumanCFTR1080cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
INFERRED, Score=800, UMLKSK CUI: C0035238
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0035238Respiratory System Abnormalities0self