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Details
Link-It Detail - Disease - Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Debug Stats
  • ### Total Build Time: 329 ms 24.459 KB
  • CONCEPT_NAME gt=16 ms Completed: 16 ms rowSize= 495 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 407 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.836 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=3 ms Completed: 3 ms rowSize= 1.727 KB
  • CONCEPT_GENES gt=304 ms Completed: 304 ms rowSize= 18.529 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.196 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612
CONGENITAL HEREDITARY NEONATAL DIS ABNORM
Definition (1)
Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Children (4)
img Infant, Newborn, Diseases C0021290
img Fetal Diseases C0015929
img Genetic Diseases, Inborn C0950123
img Congenital Abnormalities C0000768
Relationships (2)

Relation Types:
diso_​to_​diso : 2


Relationships:
entry_​version_​of : 1
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOentry_version_ofimg CONGENITAL HEREDITARY NEONATAL DIS ABNORM C0027612
DISO_to_DISOmapped_toimg HEMORRHAGIC SHOCK AND ENCEPHALOPATHY SYNDROME C0238161
Genes (1903)

Species:
human : 1903
Page Size
Current 25
  Page 1 of 77
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanLOC100507436100507436
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanFASA100192455fertility associated sperm antigen
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanOCTN3100049579organic cation transporter 3
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanPABPC1P2728773poly(A) binding protein, cytoplasmic 1 pseudogene 2
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanSPANXB1728695SPANX family, member B1
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanRP33692221
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanSFTPA1653509surfactant protein A1
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanNCF1653361neutrophil cytosolic factor 1
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanZNF674641339zinc finger protein 674
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanFRG2448831FSHD region gene 2
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanPALM2-AKAP2445815
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanCCL3L3414062chemokine (C-C motif) ligand 3-like 3
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanMIR212406994microRNA 212
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanGDF6392255growth differentiation factor 6
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanIYD389434iodotyrosine deiodinase
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanKRTAP5-1387264
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanNPSR1387129neuropeptide S receptor 1
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanIL31386653interleukin 31
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanMRX82378484mental retardation, X-linked 82
INFERRED, Score=800, UMLKSK CUI: C0027612
HumanTRIM74378108tripartite motif containing 74
INFERRED, Score=800, UMLKSK CUI: C0027612
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0027612Congenital, Hereditary, and Neonatal Diseases and Abnormalities0self