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Details
Link-It Detail - Disease - Rubinstein-Taybi Syndrome
Debug Stats
  • ### Total Build Time: 70 ms 38.507 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 604 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= 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= 2.258 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 13.247 KB
  • CONCEPT_RELATIONSHIPS gt=55 ms Completed: 55 ms rowSize= 13.806 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 6.886 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Rubinstein-Taybi Syndrome C0035934
Definition (1)
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
Semantic Types (1)
Congenital Abnormality (T019)
Parents (5)
img Chromosome Disorders C0008626
img Intellectual Disability C0025362
img Craniofacial Abnormalities C0376634
img Dysostoses C0013393
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 Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Craniofacial Abnormalities C0376634
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Craniofacial Abnormalities C0376634
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Dysostoses C0013393
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (103)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 4
diso_​to_​diso : 94
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 9
isa : 1
manifestation_​of : 91
mapped_​to : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN43img genetic aspects C0017399
DISO_to_DISO25img Complication Aspects C1171258
DISO_to_PHEN22img genetic aspects C0017399
DISO_to_CHEM20img CREB-Binding Protein C0256079
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_CHEM8img Factor, Trans-Acting C0040627
DISO_to_CHEM8img Nuclear Proteins C0028589
DISO_to_CHEM7img E1A-Associated p300 Protein C1564759
DISO_to_PHYS7img Mutation C0026882
DISO_to_ANATmanifestation_ofimg Palpebronasal fold C0229249
DISO_to_DISOmanifestation_ofimg A small minority of patients have translocations and inversions involving 16p13.3 C1867136
DISO_to_DISOmanifestation_ofimg ABNORMAL ELECTROENCEPHALOGRAM C0151611
DISO_to_DISOmanifestation_ofimg Ageneses, Enamel C0011351
DISO_to_DISOmanifestation_ofimg Agenesis of Corpus Callosum C0175754
DISO_to_DISOmanifestation_ofimg Anti-mongoloid tilt C0423110
DISO_to_DISOmanifestation_ofimg Atrial septal defect ICD10CM:Q21.1 C3276093
DISO_to_DISOmanifestation_ofimg Average adult female height 147 cm C1867125
DISO_to_DISOmanifestation_ofimg Average adult male height 153 cm C1867124
DISO_to_DISOmanifestation_ofimg Beaked nose C0240538
DISO_to_DISOmanifestation_ofimg Bite, Cross C0242385
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Bossed forehead C0221354
DISO_to_DISOmanifestation_ofimg Broad great toe C1867131
DISO_to_DISOmanifestation_ofimg Broad nasal bridge C1864688
DISO_to_DISOmanifestation_ofimg Broad thumbs with radial angulation C1867130
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanEP3002033E1A binding protein p300
img GENERIF, Score=923, Pubmed Id: 17299436, UMLKSK CUI: C0035934
img GENERIF, Score=1000, Pubmed Id: 17220215, UMLKSK CUI: C0035934
HumanCREBBP1387CREB binding protein
img GENERIF, Score=1000, Pubmed Id: 17855048, UMLKSK CUI: C0035934
img GENERIF, Score=1000, Pubmed Id: 12114483, UMLKSK CUI: C0035934
img GENERIF, Score=756, Pubmed Id: 14974086, UMLKSK CUI: C0035934
img GENERIF, Score=756, Pubmed Id: 17052327, UMLKSK CUI: C0035934
img GAD, Score=1000, Pubmed Id: 16359492, UMLKSK CUI: C0035934
img GENERIF, Score=923, Pubmed Id: 16021471, UMLKSK CUI: C0035934
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0035934Rubinstein-Taybi Syndrome0self