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Details
Link-It Detail - Disease - Funnel Chest
Debug Stats
  • ### Total Build Time: 37 ms 41.623 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 375 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 291 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1,011 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.137 KB
  • CONCEPT_RELATIONSHIPS gt=18 ms Completed: 18 ms rowSize= 11.106 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 23.374 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Funnel Chest C0016842
Congenital funnel chest
Definition (1)
A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Bone Diseases, Developmental C0005941
img Musculoskeletal Abnormalities C0151491
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059404img Bone Diseases, Developmental C0005941
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514913img Musculoskeletal Abnormalities C0151491
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Musculoskeletal Abnormalities C0151491
Relationships (25)

Relation Types:
diso_​to_​anat : 7
diso_​to_​chem : 1
diso_​to_​diso : 16
diso_​to_​phys : 1


Relationships:
none : 17
associated_​with : 1
classifies : 2
expanded_​form_​of : 1
isa : 1
location_​of : 1
mapped_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO41img Complication Aspects C1171258
DISO_to_ANAT30img Chest wall structure C0205076
DISO_to_DISO29img Complication Aspects C1171258
DISO_to_ANAT26img Sternum C0038293
DISO_to_DISO18img COMPL POSTOP C0032787
DISO_to_ANAT17img Sternum C0038293
DISO_to_DISO15img PAIN POSTOP C0030201
DISO_to_DISO14img Marfan Syndrome C0024796
DISO_to_DISO13img COMPL POSTOP C0032787
DISO_to_ANAT11img Chest wall structure C0205076
DISO_to_ANAT8img Chest C0817096
DISO_to_CHEM7img Analgesics, Opioid C0002772
DISO_to_ANAT6img Bone structure of rib C0035561
DISO_to_DISO6img Abnormalities, Multiple C0000772
DISO_to_DISO6img Aortic Aneurysm C0003486
DISO_to_DISO6img Congenital musculoskeletal anomalies C0151491
DISO_to_PHYS6img Foreign Body Migration C0016548
DISO_to_ANATlocation_ofimg Sternum C0038293
DISO_to_DISOisaimg Acquired pectus excavatum C0311224
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOexpanded_form_ofimg Congenital funnel chest C0016842
DISO_to_DISOassociated_withimg Congenital turning inward C0332955
DISO_to_DISOmapped_toimg Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails C2931302
DISO_to_DISOmapped_toimg O/E - funnel chest C0436717
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
Genes (44)

Species:
human : 44
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanUPF3B65109UPF3 regulator of nonsense transcripts homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanEFEMP230008EGF containing fibulin-like extracellular matrix protein 2
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanFBLN510516fibulin 5
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanCRTAP10491cartilage associated protein
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanPQBP110084polyglutamine binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanZEB29839zinc finger E-box binding homeobox 2
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanCUL79820cullin 7
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanADAMTSL29719ADAMTS-like 2
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanGTF2IRD19569GTF2I repeat domain containing 1
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanNOG9241noggin
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanKDM5C8242lysine (K)-specific demethylase 5C
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanPDHX8050pyruvate dehydrogenase complex, component X
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanTBX56910T-box 5
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanSMS6611spermine synthase
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanSLC16A26567solute carrier family 16, member 2 (thyroid hormone transporter)
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanRPS6KA36197ribosomal protein S6 kinase, 90kDa, polypeptide 3
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanRET5979ret proto-oncogene
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanPTEN5728phosphatase and tensin homolog
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanMAP2K25605mitogen-activated protein kinase kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanROR24920receptor tyrosine kinase-like orphan receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanMGAT24247mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanLOX4015lysyl oxidase
img OMIM, Score=1000, UMLKSK CUI: C0016842
HumanIHH3549indian hedgehog
img OMIM, Score=1000, UMLKSK CUI: C0016842
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016842Funnel Chest0self