Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Wolf-Hirschhorn Syndrome
Debug Stats
  • ### Total Build Time: 36 ms 22.250 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 1.019 KB
  • 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 997 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.196 KB
  • CONCEPT_RELATIONSHIPS gt=25 ms Completed: 25 ms rowSize= 14.303 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Wolf-Hirschhorn Syndrome C1956097
Definition (1)
A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Chromosome Disorders C0008626
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 Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (98)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 1
diso_​to_​diso : 91
diso_​to_​gene : 2
diso_​to_​phen : 1


Relationships:
none : 5
alias_​of : 1
associated_​with : 1
gene_​associated_​with_​disease : 2
gene_​product_​malfunction_​associated_​with_​disease : 1
inheritance_​type_​of : 1
manifestation_​of : 87
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN43img genetic aspects C0017399
DISO_to_ANAT20img 4 chromosome C0008667
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_DISO11img Chromosome Deletion C0008628
DISO_to_DISO7img Chromosomal translocation C0040715
DISO_to_ANATmanifestation_ofimg Fifth ventricle C0228158
DISO_to_ANATmanifestation_ofimg Palpebronasal fold C0229249
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Negative Elongation Factor A Protein C2698433
DISO_to_DISOmanifestation_ofimg 13% of cases secondary to familial translocation (often maternally derived) C1860260
DISO_to_DISOmanifestation_ofimg AGE BONE RETARDED C0541764
DISO_to_DISOmanifestation_ofimg Absence of gallbladder C1386749
DISO_to_DISOmanifestation_ofimg Absence of pubic rami C1860251
DISO_to_DISOmanifestation_ofimg Absent septum pellucidum C1848502
DISO_to_DISOmanifestation_ofimg Accessory proximal metacarpal ossification centers C1860253
DISO_to_DISOmanifestation_ofimg Accessory spleen C0266631
DISO_to_DISOmanifestation_ofimg Accessory tragus C0266609
DISO_to_DISOassociated_withimg Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) C1275071
DISO_to_DISOmanifestation_ofimg Approximately 35% of patients die during the first 2 years of life C1860263
DISO_to_DISOmanifestation_ofimg Atrial septal defect ICD10CM:Q21.1 C3276093
DISO_to_DISOmanifestation_ofimg Beaked nose C0240538
DISO_to_DISOmanifestation_ofimg Bifid vertebrae C1860250
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg CL - Cleft lip C0008924
DISO_to_DISOmanifestation_ofimg Cleft Palate C0008925
DISO_to_DISOmanifestation_ofimg Clubfoot C0009081
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1956097Wolf-Hirschhorn Syndrome0self