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Details
Link-It Detail - Disease - De Lange Syndrome
Debug Stats
  • ### Total Build Time: 227 ms 36.096 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 517 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=2 ms Completed: 2 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=14 ms Completed: 14 ms rowSize= 1.405 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=11 ms Completed: 11 ms rowSize= 9.368 KB
  • CONCEPT_RELATIONSHIPS gt=162 ms Completed: 162 ms rowSize= 14.185 KB
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 8.938 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
De Lange Syndrome C0270972
Definition (1)
A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Abnormalities, Multiple C0000772
img Chromosome Disorders C0008626
img Intellectual Disability C0025362
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
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 Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Intellectual Disability C0025362
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Intellectual Disability C0025362
img Behavior and Behavior Mechanisms C0004928img Neurobehavioral Manifestations C05250414img Intellectual Disability C0025362
Relationships (76)

Relation Types:
diso_​to_​chem : 5
diso_​to_​diso : 67
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 8
expanded_​form_​of : 1
gene_​associated_​with_​disease : 1
gene_​product_​malfunction_​associated_​with_​disease : 1
isa : 1
manifestation_​of : 61
used_​for : 3
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN56img genetic aspects C0017399
DISO_to_PHEN28img genetic aspects C0017399
DISO_to_CHEM19img Proteins C0033684
DISO_to_CHEM15img CHROMOSOMAL PROTEINS NONHISTONE C0008600
DISO_to_CHEM15img Cell Cycle Protein C0243021
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_CHEM10img Proteins C0033684
DISO_to_PHYS10img Mutation C0026882
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Nipped-B-Like Protein C2698472
DISO_to_DISOmanifestation_ofimg 2,3 toe syndactyly C0432040
DISO_to_DISOmanifestation_ofimg Abnormally short neck C0521525
DISO_to_DISOmanifestation_ofimg Absent finger C0728895
DISO_to_DISOmanifestation_ofimg Absent/poor corticomedullary differentiation (some patients) C1969959
DISO_to_DISOmanifestation_ofimg Anteverted nostrils C1837721
DISO_to_DISOmanifestation_ofimg BRACHYCEPHALY C0221356
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Byzanthine arch palate C0240635
DISO_to_DISOmanifestation_ofimg Caused by mutation in the Nipped-B-like gene (NIPBL, 608667.0001) C1852537
DISO_to_DISOmanifestation_ofimg Cleft palate with cleft lip C0158646
DISO_to_DISOmanifestation_ofimg Clinodactyly (fifth finger) C1857528
DISO_to_DISOmanifestation_ofimg Conductive hearing loss to due otitis media C2675748
DISO_to_DISOmanifestation_ofimg Congenital Heart Defects C0018798
DISO_to_DISOmanifestation_ofimg Congenital absence of proximal portion of limb C0031575
DISO_to_DISOmanifestation_ofimg Congenital diaphragmatic hernia C0235833
DISO_to_DISOmanifestation_ofimg Congenital micrognathia C0025990
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanNIPBL25836Nipped-B homolog (Drosophila)
img GENERIF, Score=1000, Pubmed Id: 16236812, UMLKSK CUI: C0270972
img GENERIF, Score=937, Pubmed Id: 17106445, UMLKSK CUI: C0270972
img GENERIF, Score=1000, Pubmed Id: 15146186, UMLKSK CUI: C0270972
img GENERIF, Score=1000, Pubmed Id: 17661813, UMLKSK CUI: C0270972
img GENERIF, Score=771, Pubmed Id: 15591270, UMLKSK CUI: C0270972
img GENERIF, Score=1000, Pubmed Id: 17264868, UMLKSK CUI: C0270972
HumanSMC39126structural maintenance of chromosomes 3
img GENERIF, Score=1000, Pubmed Id: 17273969, UMLKSK CUI: C0270972
HumanTNKS8658tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
img GENERIF, Score=941, Pubmed Id: 18470924, UMLKSK CUI: C0270972
HumanSMC1A8243structural maintenance of chromosomes 1A
img GENERIF, Score=1000, Pubmed Id: 17273969, UMLKSK CUI: C0270972
img GENERIF, Score=1000, Pubmed Id: 16604071, UMLKSK CUI: C0270972
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0270972De Lange Syndrome0self