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Details
Link-It Detail - Disease - Coffin-Lowry Syndrome
Debug Stats
  • ### Total Build Time: 100 ms 29.316 KB
  • CONCEPT_NAME gt=41 ms Completed: 41 ms rowSize= 340 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 328 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
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 8.043 KB
  • CONCEPT_RELATIONSHIPS gt=44 ms Completed: 44 ms rowSize= 13.084 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 5.612 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Coffin-Lowry Syndrome C0265252
Definition (1)
An inherited syndrome caused by mutations in the RPS6KA3 gene. It is characterized by mental retardation, developmental delay, microcephaly, short stature and kyphoscoliosis.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Mental Retardation, X-Linked C1136249
Ancestral Roots
RootRoot Plus OneDepthParent
img Mental Disorders C0004936img Mental Disorders Diagnosed in Childhood C05250405img Mental Retardation, X-Linked C1136249
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370887img Mental Retardation, X-Linked C1136249
img Nervous System Diseases C0027765img Neurologic Manifestations C00278546img Mental Retardation, X-Linked C1136249
img Behavior and Behavior Mechanisms C0004928img Neurobehavioral Manifestations C05250415img Mental Retardation, X-Linked C1136249
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Mental Retardation, X-Linked C1136249
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Mental Retardation, X-Linked C1136249
Relationships (75)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 71
diso_​to_​phen : 2


Relationships:
none : 4
inheritance_​type_​of : 2
manifestation_​of : 68
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_CHEM12img MAP KINASE ACTIVATED KINASE A 01 C0248441
DISO_to_CHEM8img MAP KINASE ACTIVATED KINASE A 01 C0248441
DISO_to_DISOmanifestation_ofimg 'Drumstick' terminal phalanges C1844822
DISO_to_DISOmanifestation_ofimg 'HABSBURG JAW' C0266075
DISO_to_DISOmanifestation_ofimg AGE BONE RETARDED C0541764
DISO_to_DISOmanifestation_ofimg Anteverted nares C1853244
DISO_to_DISOmanifestation_ofimg Approximately 70-80% of cases are de novo and sporadic C3275547
DISO_to_DISOmanifestation_ofimg Arched eyebrows C1853641
DISO_to_DISOmanifestation_ofimg Birth length normal C1853173
DISO_to_DISOmanifestation_ofimg Birth weight normal C0456136
DISO_to_DISOmanifestation_ofimg Broad nose C1853571
DISO_to_DISOmanifestation_ofimg Caused by mutation in the ribosomal protein S6 kinase, 90kD, polypeptide 3 gene (RPS6KA3, 300075.0001) C3275546
DISO_to_DISOmanifestation_ofimg Clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies C1844829
DISO_to_DISOmanifestation_ofimg Coarse facies C0239539
DISO_to_DISOpermuted_term_ofimg Coffin-Lowry Syndrome C0265252
DISO_to_DISOmanifestation_ofimg Congenital funnel chest C0016842
DISO_to_DISOmanifestation_ofimg Congenital pectus carinatum C0158731
DISO_to_DISOmanifestation_ofimg Coxa valga C0239137
DISO_to_DISOmanifestation_ofimg Cutis Laxa C0010495
DISO_to_DISOmanifestation_ofimg Cutis marmorata C0263401
DISO_to_DISOmanifestation_ofimg Delayed anterior fontanelle closure C1855653
DISO_to_DISOmanifestation_ofimg Dependent acrocyanosis C1844823
DISO_to_DISOmanifestation_ofimg Down slanting palpebral fissures C1835885
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanRPS6KA36197ribosomal protein S6 kinase, 90kDa, polypeptide 3
img GENERIF, Score=1000, Pubmed Id: 16691578, UMLKSK CUI: C0265252
img GENERIF, Score=884, Pubmed Id: 11896450, UMLKSK CUI: C0265252
img GENERIF, Score=1000, Pubmed Id: 14678837, UMLKSK CUI: C0265252
img GENERIF, Score=884, Pubmed Id: 17100996, UMLKSK CUI: C0265252
img GENERIF, Score=1000, Pubmed Id: 11992250, UMLKSK CUI: C0265252
img GENERIF, Score=1000, Pubmed Id: 17318637, UMLKSK CUI: C0265252
img GENERIF, Score=861, Pubmed Id: 16879200, UMLKSK CUI: C0265252
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265252Coffin-Lowry Syndrome0self