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Details
Link-It Detail - Disease - Pierre Robin Syndrome
Debug Stats
  • ### Total Build Time: 80 ms 23.272 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 340 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 578 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=1 ms Completed: 1 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 553 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 7.973 KB
  • CONCEPT_RELATIONSHIPS gt=67 ms Completed: 67 ms rowSize= 12.388 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pierre Robin Syndrome C0031900
Definition (1)
Congenital malformation characterized by micrognathia, glossoptosis and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (1)
img Jaw Abnormalities C0022360
Ancestral Roots
RootRoot Plus OneDepthParent
img Stomatognathic Diseases C0038368img Jaw Diseases C00223624img Jaw Abnormalities C0022360
img Musculoskeletal Diseases C0026857img Jaw Diseases C00223624img Jaw Abnormalities C0022360
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514916img Jaw Abnormalities C0022360
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007687img Jaw Abnormalities C0022360
img Stomatognathic Diseases C0038368img Stomatognathic System Abnormalities C02430575img Jaw Abnormalities C0022360
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Jaw Abnormalities C0022360
Relationships (28)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 23
diso_​to_​phen : 2


Relationships:
none : 13
alias_​of : 1
mapped_​to : 14
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO60img Complication Aspects C1171258
DISO_to_DISO39img Complication Aspects C1171258
DISO_to_DISO27img AIRWAY OBSTRUCTION C0001883
DISO_to_ANAT21img Mandible C0024687
DISO_to_DISO21img AIRWAY OBSTRUCTION C0001883
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_ANAT14img Mandible C0024687
DISO_to_DISO13img Cleft Palate C0008925
DISO_to_DISO10img Cleft Palate C0008925
DISO_to_DISO9img Congenital micrognathia C0025990
DISO_to_DISO9img Micrognathism C0025990
DISO_to_PHEN9img genetic aspects C0017399
DISO_to_ANAT8img Tongue C0040408
DISO_to_DISOmapped_toimg Bilateral radial defects, club foot deformity, micrognathia and cleft palate C2931143
DISO_to_DISOmapped_toimg Braddock Carey syndrome C2931364
DISO_to_DISOmapped_toimg CAMPOMELIC DYSPLASIA, MILD C1865783
DISO_to_DISOmapped_toimg CAREY-FINEMAN-ZITER SYNDROME C1850746
DISO_to_DISOmapped_toimg Catel Manzke syndrome C1844887
DISO_to_DISOmapped_toimg Chitayat Meunier Hodgkinson syndrome C2931064
DISO_to_DISOmapped_toimg Femoral hypoplasia - unusual facies syndrome C0265263
DISO_to_DISOmapped_toimg PIERRE ROBIN SYNDROME AND OLIGODACTYLY C1868309
DISO_to_DISOmapped_toimg PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT C1839463
DISO_to_DISOmapped_toimg PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA C1848488
DISO_to_DISOalias_ofimg Pierre Robin Syndrome C0031900
DISO_to_DISOmapped_toimg Proptosis, Robin association, clenched hands, and multiple abnormalities C2931450
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0031900Pierre Robin Syndrome0self