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Details
Link-It Detail - Disease - Chromosome Disorders
Debug Stats
  • ### Total Build Time: 107 ms 44.401 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 398 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 386 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=20 ms Completed: 20 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 1,002 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 6.562 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.881 KB
  • CONCEPT_RELATIONSHIPS gt=54 ms Completed: 54 ms rowSize= 13.715 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 18.134 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Chromosome Disorders C0008626
Congenital chromosomal disease
Definition (1)
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Genetic Diseases, Inborn C0950123
img Congenital Abnormalities C0000768
Children (15)
img Cri-du-Chat Syndrome C0010314
img De Lange Syndrome C0270972
img Angelman Syndrome C0162635
img Prader-Willi Syndrome C0032897
img WAGR Syndrome C0206115
img Holoprosencephaly C0079541
img Silver-Russell Syndrome C0175693
img Beckwith-Wiedemann Syndrome C0004903
img Jacobsen Distal 11q Deletion Syndrome C0795841
img Down Syndrome C0013080
img Rubinstein-Taybi Syndrome C0035934
img Williams Syndrome C0175702
img Wolf-Hirschhorn Syndrome C1956097
img Sex Chromosome Disorders C0949683
img Branchio-Oto-Renal Syndrome C0265234
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007683img Congenital Abnormalities C0000768
Relationships (150)

Relation Types:
diso_​to_​anat : 21
diso_​to_​diso : 117
diso_​to_​gene : 4
diso_​to_​phen : 2
diso_​to_​phys : 6


Relationships:
none : 58
associated_​with : 11
classifies : 2
isa : 33
mapped_​to : 46
Page Size
Current 25
  Page 1 of 6
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN379img genetic aspects C0017399
DISO_to_PHEN251img genetic aspects C0017399
DISO_to_DISO86img Chromosome Deletion C0008628
DISO_to_DISO80img Chromosome Aberrations C0008625
DISO_to_DISO67img Chromosome Aberrations C0008625
DISO_to_DISO62img Abnormalities, Multiple C0000772
DISO_to_DISO61img Abnormalities, Multiple C0000772
DISO_to_DISO48img Alteration of chromosome number C0002938
DISO_to_DISO48img Chromosomal Triplication C0041107
DISO_to_DISO41img Chromosome Deletion C0008628
DISO_to_DISO39img Chromosomal Triplication C0041107
DISO_to_DISO39img Complication Aspects C1171258
DISO_to_DISO34img Complication Aspects C1171258
DISO_to_DISO31img Intellectual Disability C0025362
DISO_to_DISO29img Intellectual Disability C0025362
DISO_to_DISO26img DISORDER FETAL C0015929
DISO_to_ANAT21img 22 chromosome C0008665
DISO_to_DISO19img Chromosomal translocation C0040715
DISO_to_DISO19img DISORDER FETAL C0015929
DISO_to_ANAT18img 22 chromosome C0008665
DISO_to_ANAT17img In Blood C0005768
DISO_to_GENE17img Dominant Gene C0017342
DISO_to_DISO16img Alteration of chromosome number C0002938
DISO_to_DISO16img Chromosomal translocation C0040715
DISO_to_DISO16img Developmental Disabilities C0008073
Genes (201)

Species:
human : 201
Page Size
Current 25
  Page 1 of 9
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanTRIM74378108tripartite motif containing 74
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanSNORD115-1338433
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanNPAS4266743neuronal PAS domain protein 4
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanSIX5147912SIX homeobox 5
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanTRIM50135892tripartite motif containing 50
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanPROKR2128674prokineticin receptor 2
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanNIPA1123606non imprinted in Prader-Willi/Angelman syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanTUBGCP5114791tubulin, gamma complex associated protein 5
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanBAGE285319B melanoma antigen family, member 2
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanGTF2IRD284163GTF2I repeat domain containing 2
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanNIPA281614non imprinted in Prader-Willi/Angelman syndrome 2
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanTDRD381550tudor domain containing 3
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanNSD164324nuclear receptor binding SET domain protein 1
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanPRDM1663976PR domain containing 16
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanNSUN555695NOP2/Sun domain family, member 5
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanPEX2655670peroxisomal biogenesis factor 26
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanGHRL51738ghrelin/obestatin prepropeptide
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanPIGP51227phosphatidylinositol glycan anchor biosynthesis, class P
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanCOPS451138COP9 signalosome subunit 4
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanCDON50937cell adhesion associated, oncogene regulated
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanMTHFD1L25902methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
INFERRED, Score=800, UMLKSK CUI: C0008626
HumanNIPBL25836Nipped-B homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0008626
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0008626Chromosome Disorders0self