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Details
Link-It Detail - Disease - Pathological Conditions, Anatomical
Debug Stats
  • ### Total Build Time: 276 ms 33.414 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 431 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 277 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 579 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 9.819 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.154 KB
  • CONCEPT_RELATIONSHIPS gt=3 ms Completed: 3 ms rowSize= 1.168 KB
  • CONCEPT_GENES gt=265 ms Completed: 265 ms rowSize= 18.636 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.169 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Pathological Conditions, Anatomical C0752135
Anatomical Pathological Condition
Definition (1)
An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases.
Semantic Types (1)
Pathologic Function (T046)
Parents (1)
img Pathological Conditions, Signs and Symptoms C0039058
Children (23)
img Diverticulum C0012817
img Cysts C0010709
img Ventricular Remodeling C0600519
img Facial Asymmetry C1306710
img Leukoplakia C0023531
img Alopecia C0002170
img Rupture, Spontaneous C0035956
img Calculi C0006736
img Fistula C0016169
img Leg Length Inequality C0023221
img Torsion Abnormality C1956418
img Airway Remodeling C2717792
img Hernia C0019270
img Polyps C0032584
img Prolapse C0033377
img Constriction, Pathologic C1261287
img Dilatation, Pathologic C0012359
img Nails, Malformed C0027344
img Hypertrophy C0020564
img Agenesis of Corpus Callosum C0175754
img Atrophy C0333641
img Blister C0005758
img Choristoma C0008519
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C00390582img Pathological Conditions, Signs and Symptoms C0039058
Relationships (1)

Relation Types:
diso_​to_​diso : 1


Relationships:
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOpermuted_term_ofimg Anatomical Pathological Condition C0752135
Genes (995)

Species:
human : 995
Page Size
Current 25
  Page 1 of 40
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanGGT2728441gamma-glutamyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanPPBPL1728045
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanMUC5B727897mucin 5B, oligomeric mucus/gel-forming
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanNCF1653361neutrophil cytosolic factor 1
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanSLC25A5P8392301solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanCRAC1338377colorectal adenoma and carcinoma 1
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanIBD9317669inflammatory bowel disease 9
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanNEK8284086NIMA-related kinase 8
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanNLRP11204801NLR family, pyrin domain containing 11
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanFLCN201163folliculin
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanLIPH200879lipase, member H
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanIBD8170595inflammatory bowel disease 8
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanCLEC4C170482C-type lectin domain family 4, member C
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanARX170302aristaless related homeobox
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanIL23R149233interleukin 23 receptor
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanSERPINA12145264serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanHIST3H2BB128312histone cluster 3, H2bb
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanNLRP5126206NLR family, pyrin domain containing 5
INFERRED, Score=800, UMLKSK CUI: C0752135
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
INFERRED, Score=800, UMLKSK CUI: C0752135
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0752135Pathological Conditions, Anatomical0self