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Details
Link-It Detail - Disease - 9q SUBTELOMERIC DELETION SYNDROME
Debug Stats
  • ### Total Build Time: 130 ms 16.045 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 364 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=106 ms Completed: 106 ms rowSize= 12.245 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 2.207 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
9q SUBTELOMERIC DELETION SYNDROME C0795833
Relationships (31)

Relation Types:
diso_​to_​diso : 31


Relationships:
alias_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 29
Page Size
Current 25
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOalias_ofimg 9q SUBTELOMERIC DELETION SYNDROME C0795833
DISO_to_DISOmanifestation_ofimg Aggression C0001807
DISO_to_DISOmanifestation_ofimg Anteverted nares C1853244
DISO_to_DISOmanifestation_ofimg BRACHYCEPHALY C0221356
DISO_to_DISOmanifestation_ofimg BRACHYDACTYLY C0221357
DISO_to_DISOmanifestation_ofimg Big jaw C0033324
DISO_to_DISOmanifestation_ofimg Carp-shaped mouth C1853245
DISO_to_DISOmanifestation_ofimg Caused by mutation in the euchromatic histone methyltransferase-1 gene (EHMT1, 607001.0001) C1853239
DISO_to_DISOmanifestation_ofimg Coarse facies C0239539
DISO_to_DISOmanifestation_ofimg Congenital macroglossia C0009677
DISO_to_DISOmanifestation_ofimg Conotruncal heart defects C1853238
DISO_to_DISOmanifestation_ofimg Everted lower lip C1853246
DISO_to_DISOmanifestation_ofimg Flat face C1853241
DISO_to_DISOmanifestation_ofimg Hearing Loss C1384666
DISO_to_DISOmanifestation_ofimg Hypertelorism C0020534
DISO_to_DISOinheritance_type_ofimg Isolated cases C1853237
DISO_to_DISOmanifestation_ofimg MICROCEPHALY C0025958
DISO_to_DISOmanifestation_ofimg Malformed ears C0857379
DISO_to_DISOmanifestation_ofimg Many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of EHMT1 (607001) C1853240
DISO_to_DISOmanifestation_ofimg Mental retardation, severe ICD10CM:F72 C3276484
DISO_to_DISOmanifestation_ofimg Midface hypoplasia C1853242
DISO_to_DISOmanifestation_ofimg Muscle Hypotonia C0026827
DISO_to_DISOmanifestation_ofimg Obesity C0028754
DISO_to_DISOmanifestation_ofimg Obsessive-Compulsive Disorder C0028768
DISO_to_DISOmanifestation_ofimg Problem behavior C0260653
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
img GENERIF, Score=1000, Pubmed Id: 16826528, UMLKSK CUI: C0795833
img GENERIF, Score=933, Pubmed Id: 15805155, UMLKSK CUI: C0795833
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C07958339q SUBTELOMERIC DELETION SYNDROME0self