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Details
Link-It Detail - Disease - Choanal Atresia
Debug Stats
  • ### Total Build Time: 31 ms 35.668 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 374 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 333 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=3 ms Completed: 3 ms rowSize= 999 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.403 KB
  • CONCEPT_RELATIONSHIPS gt=17 ms Completed: 17 ms rowSize= 13.081 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 14.146 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Choanal Atresia C0008297
Atresia of nares
Definition (1)
A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Nose Diseases C0028432
img Respiratory System Abnormalities C0035238
Ancestral Roots
RootRoot Plus OneDepthParent
img Respiratory Tract Diseases C0035242img Nose Diseases C00284323img Nose Diseases C0028432
img Otorhinolaryngologic Diseases C0029896img Nose Diseases C00284323img Nose Diseases C0028432
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Respiratory System Abnormalities C0035238
img Respiratory Tract Diseases C0035242img Respiratory System Abnormalities C00352383img Respiratory System Abnormalities C0035238
Relationships (30)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 25
diso_​to_​phen : 2


Relationships:
none : 12
associated_​with : 1
classifies : 2
isa : 1
location_​of : 2
mapped_​to : 11
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO24img Complication Aspects C1171258
DISO_to_DISO19img Abnormalities, Multiple C0000772
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_DISO16img Coloboma C0009363
DISO_to_DISO14img Abnormalities, Multiple C0000772
DISO_to_DISO14img Congenital Heart Defects C0018798
DISO_to_DISO8img Coloboma C0009363
DISO_to_ANAT6img Nasal Cavity C0027423
DISO_to_DISO6img Congenital Heart Defects C0018798
DISO_to_DISO6img chemically induced C0007994
DISO_to_ANATlocation_ofimg Anterior nares C0595944
DISO_to_ANATlocation_ofimg Structure of choanae C0225432
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOmapped_toimg Anterior atresia of nares C0345147
DISO_to_DISOmapped_toimg Anterior congenital stenosis of nares C0345145
DISO_to_DISOmapped_toimg Aplasia cutis congenita of limbs recessive C1838206
DISO_to_DISOmapped_toimg Arhinia, choanal atresia, and microphthalmia C1863878
DISO_to_DISOassociated_withimg Atresia C0243066
DISO_to_DISOpermuted_term_ofimg Atresia of nares C0008297
DISO_to_DISOmapped_toimg Atresia of the posterior nares C0345146
DISO_to_DISOmapped_toimg Autosomal dominant radial ray hypoplasia syndrome C2931464
DISO_to_DISOmapped_toimg Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance C1837822
DISO_to_DISOisaimg Choanal atresia with CHARGE association C0339839
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanSALL457167sal-like 4 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0008297
HumanFAM20C56975family with sequence similarity 20, member C
img OMIM, Score=1000, UMLKSK CUI: C0008297
HumanCHD755636chromodomain helicase DNA binding protein 7
img OMIM, Score=983, UMLKSK CUI: C0008297
HumanZMPSTE2410269zinc metallopeptidase STE24
img OMIM, Score=1000, UMLKSK CUI: C0008297
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img OMIM, Score=983, UMLKSK CUI: C0008297
HumanTP638626tumor protein p63
img OMIM, Score=1000, UMLKSK CUI: C0008297
HumanWNT37473wingless-type MMTV integration site family, member 3
img OMIM, Score=1000, UMLKSK CUI: C0008297
HumanSHH6469sonic hedgehog
img OMIM, Score=1000, UMLKSK CUI: C0008297
HumanPTH1R5745parathyroid hormone 1 receptor
img OMIM, Score=1000, UMLKSK CUI: C0008297
HumanPOR5447P450 (cytochrome) oxidoreductase
img OMIM, Score=1000, UMLKSK CUI: C0008297
HumanNBN4683nibrin
img OMIM, Score=1000, UMLKSK CUI: C0008297
HumanLMNA4000lamin A/C
img OMIM, Score=1000, UMLKSK CUI: C0008297
HumanFOXE12304forkhead box E1 (thyroid transcription factor 2)
img OMIM, Score=1000, UMLKSK CUI: C0008297
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0008297
img OMIM, Score=1000, UMLKSK CUI: C0008297
HumanFGFR12260fibroblast growth factor receptor 1
img OMIM, Score=1000, UMLKSK CUI: C0008297
img OMIM, Score=1000, UMLKSK CUI: C0008297
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0008297Choanal Atresia0self