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Details
Link-It Detail - Disease - Cri-du-Chat Syndrome
Debug Stats
  • ### Total Build Time: 48 ms 21.466 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 456 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 1.405 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 9.368 KB
  • CONCEPT_RELATIONSHIPS gt=23 ms Completed: 23 ms rowSize= 6.942 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 1.544 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cri-du-Chat Syndrome C0010314
Definition (1)
An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (3)
img Chromosome Disorders C0008626
img Intellectual Disability C0025362
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Chromosome Disorders C0008626
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Chromosome Disorders C0008626
img Mental Disorders C0004936img Mental Disorders Diagnosed in Childhood C05250404img Intellectual Disability C0025362
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Intellectual Disability C0025362
img Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Intellectual Disability C0025362
img Behavior and Behavior Mechanisms C0004928img Neurobehavioral Manifestations C05250414img Intellectual Disability C0025362
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (15)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 11
diso_​to_​phen : 2


Relationships:
none : 5
classifies : 2
mapped_​to : 7
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN20img genetic aspects C0017399
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_ANAT13img 5 chromosome C0008668
DISO_to_ANAT9img 5 chromosome C0008668
DISO_to_DISO8img Chromosome Deletion C0008628
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOmapped_toimg Cat's cry C0234861
DISO_to_DISOmapped_toimg Chromosome 5, Trisomy 5p, Complete (5p11-pter) C2931575
DISO_to_DISOmapped_toimg Chromosome 5, monosomy 5q35 C2931574
DISO_to_DISOmapped_toimg Chromosome 5, trisomy 5pter p13 3 C2931576
DISO_to_DISOmapped_toimg Chromosome 5, trisomy 5q C1802398
DISO_to_DISOmapped_toimg Chromosome 5, uniparental disomy C2931602
DISO_to_DISOpermuted_term_ofimg Cri-du-Chat Syndrome C0010314
DISO_to_DISOmapped_toimg Monosomy 5p C2931860
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanTERT7015telomerase reverse transcriptase
img GENERIF, Score=1000, Pubmed Id: 12629597, UMLKSK CUI: C0010314
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0010314Cri-du-Chat Syndrome0self