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Details
Link-It Detail - Disease - Rothmund-Thomson Syndrome
Debug Stats
  • ### Total Build Time: 23 ms 30.987 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 476 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 4.643 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Rothmund-Thomson Syndrome C0032339
Definition (1)
An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Infant, Newborn, Diseases C0021290
img DNA Repair-Deficiency Disorders C1563696
img Skin Abnormalities C0037268
img Skin Diseases, Genetic C0037277
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Infant, Newborn, Diseases C00212903img Infant, Newborn, Diseases C0021290
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img DNA Repair-Deficiency Disorders C1563696
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Abnormalities C0037268
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Skin Abnormalities C0037268
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Genetic C0037277
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Skin Diseases, Genetic C0037277
Relationships (63)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 2
diso_​to_​diso : 57
diso_​to_​gene : 1
diso_​to_​phen : 2


Relationships:
none : 6
is_​associated_​disease_​of : 3
is_​finding_​of_​disease : 3
location_​of : 1
manifestation_​of : 43
mapped_​to : 4
may_​be_​molecular_​abnormality_​of_​disease : 1
permuted_​term_​of : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN32img genetic aspects C0017399
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_CHEM17img DNA Helicases C0920283
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_CHEM11img Adenosine Triphosphatases C0001473
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_DISOis_finding_of_diseaseimg Alopecia C0002170
DISO_to_DISOmanifestation_ofimg Annular Pancreas C0149955
DISO_to_DISOmanifestation_ofimg Anteriorly placed anus C1853620
DISO_to_DISOis_associated_disease_ofimg Atrophic condition of skin C0151514
DISO_to_DISOmanifestation_ofimg Atrophic nails C1849330
DISO_to_DISOmanifestation_ofimg Basal cell carcinoma C0007117
DISO_to_DISOmanifestation_ofimg Big jaw C0033324
DISO_to_DISOmanifestation_ofimg Bossed forehead C0221354
DISO_to_DISOmanifestation_ofimg Carcinoma, Squamous Cell C0007137
DISO_to_DISOmanifestation_ofimg Caused by mutations in the Req-like DNA helicase type 4 gene (REQL4, 603780.0001) C1849331
DISO_to_DISOmanifestation_ofimg Clubfoot C0009081
DISO_to_DISOmanifestation_ofimg Congenital absence of patella C0265667
DISO_to_DISOmanifestation_ofimg Congenital hip dislocation (rare) C3151612
DISO_to_DISOmanifestation_ofimg Cryptorchidism C0010417
DISO_to_DISOmanifestation_ofimg Delayed eruption C1839943
DISO_to_DISOmanifestation_ofimg Erythematous skin lesions in infancy C1849328
DISO_to_DISOis_finding_of_diseaseimg Exanthema C0015230
DISO_to_DISOmanifestation_ofimg Extra teeth C0040457
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanRECQL49401RecQ protein-like 4
img GENERIF, Score=1000, Pubmed Id: 16214424, UMLKSK CUI: C0032339
img GENERIF, Score=756, Pubmed Id: 18647888, UMLKSK CUI: C0032339
img GENERIF, Score=1000, Pubmed Id: 15964893, UMLKSK CUI: C0032339
img GENERIF, Score=1000, Pubmed Id: 18616953, UMLKSK CUI: C0032339
img GAD, Score=1000, Pubmed Id: 12734318, UMLKSK CUI: C0032339
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0032339Rothmund-Thomson Syndrome0self