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Details
Link-It Detail - Disease - Abnormalities, Multiple
Debug Stats
  • ### Total Build Time: 564 ms 58.026 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 344 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=10 ms Completed: 10 ms rowSize= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 560 bytes
  • CONCEPT_CHILDREN gt=28 ms Completed: 28 ms rowSize= 21.562 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.558 KB
  • CONCEPT_RELATIONSHIPS gt=444 ms Completed: 444 ms rowSize= 13.935 KB
  • CONCEPT_GENES gt=74 ms Completed: 74 ms rowSize= 18.718 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Abnormalities, Multiple C0000772
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Congenital Abnormalities C0000768
Children (50)
img Oculocerebrorenal Syndrome C0028860
img Prolidase Deficiency C0268532
img Mobius Syndrome C0221060
img Costello Syndrome C0587248
img Loeys-Dietz Syndrome C2697932
img Nail-Patella Syndrome C0027341
img Prune Belly Syndrome C0033770
img Monilethrix C0546966
img Netherton Syndrome C0265962
img Weill-Marchesani Syndrome C0265313
img Alstrom Syndrome C0268425
img Branchio-Oto-Renal Syndrome C0265234
img Gardner Syndrome C0017097
img Short Rib-Polydactyly Syndrome C0036996
img Waardenburg Syndrome C0043008
img Wolfram Syndrome C0043207
img Trichothiodystrophy Syndromes C1955934
img Isolated Noncompaction of the Ventricular Myocardium C2717907
img Cri-du-Chat Syndrome C0010314
img LEOPARD Syndrome C0175704
img Proteus Syndrome C0085261
img De Lange Syndrome C0270972
img Laurence-Moon Syndrome C0023138
img Rubella Syndrome, Congenital C0035921
img Alagille Syndrome C0085280
img Angelman Syndrome C0162635
img Nevus, Sebaceous of Jadassohn C0265318
img Cockayne Syndrome C0009207
img Basal Cell Nevus Syndrome C0004779
img Ectodermal Dysplasia C0013575
img Prader-Willi Syndrome C0032897
img Pallister-Hall Syndrome C0265220
img Smith-Lemli-Opitz Syndrome C0175694
img Bardet-Biedl Syndrome C0752166
img Bloom Syndrome C0005859
img Incontinentia Pigmenti C0021171
img Orofaciodigital Syndromes C0029294
img Holoprosencephaly C0079541
img Silver-Russell Syndrome C0175693
img Beckwith-Wiedemann Syndrome C0004903
img Zellweger Syndrome C0043459
img POEMS Syndrome C0085404
img Donohue Syndrome C0265344
img Barth Syndrome C0574083
img Down Syndrome C0013080
img Marfan Syndrome C0024796
img Rubinstein-Taybi Syndrome C0035934
img Carney Complex C0406810
img Deaf-Blind Disorders C1955603
img Wolf-Hirschhorn Syndrome C1956097
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007683img Congenital Abnormalities C0000768
Relationships (485)

Relation Types:
diso_​to_​anat : 79
diso_​to_​chem : 13
diso_​to_​diso : 377
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 13


Relationships:
none : 221
associated_​with : 2
isa : 16
mapped_​to : 246
Page Size
Current 25
  Page 1 of 20
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN1677img genetic aspects C0017399
DISO_to_PHEN1618img genetic aspects C0017399
DISO_to_DISO307img Congenital Heart Defects C0018798
DISO_to_DISO281img Intellectual Disability C0025362
DISO_to_DISO242img Intellectual Disability C0025362
DISO_to_DISO236img Chromosome Deletion C0008628
DISO_to_DISO226img Congenital Heart Defects C0018798
DISO_to_DISO199img Chromosome Deletion C0008628
DISO_to_PHYS197img Mutation C0026882
DISO_to_DISO188img Abnormalities, Craniofacial C0376634
DISO_to_DISO178img Abnormalities, Craniofacial C0376634
DISO_to_PHYS163img Mutation C0026882
DISO_to_ANAT141img Face C0015450
DISO_to_ANAT122img Pulmonary Artery C0034052
DISO_to_DISO120img Chromosomal Triplication C0041107
DISO_to_DISO116img Abnormalities, Eye C0015393
DISO_to_DISO115img Chromosome Aberrations C0008625
DISO_to_DISO107img Disorder, Growth C0018273
DISO_to_DISO106img Abnormalities, Eye C0015393
DISO_to_ANAT104img Kidney C0022646
DISO_to_DISO104img Chromosomal Triplication C0041107
DISO_to_ANAT103img Kidney C0022646
DISO_to_DISO93img Cleft Palate C0008925
DISO_to_DISO93img Developmental Disabilities C0008073
DISO_to_DISO92img Heart Septal Defects, Ventricular C0018818
Genes (343)

Species:
human : 343
Page Size
Current 25
  Page 1 of 14
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanOCTN3100049579organic cation transporter 3
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanNCF1653361neutrophil cytosolic factor 1
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanSNORD115-1338433
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanNPAS4266743neuronal PAS domain protein 4
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanPCSK9255738proprotein convertase subtilisin/kexin type 9
img GENERIF, Score=1000, Pubmed Id: 18680192, UMLKSK CUI: C0000772
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanBBS12166379Bardet-Biedl syndrome 12
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanSPRED1161742sprouty-related, EVH1 domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanSIX5147912SIX homeobox 5
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanEVC2132884Ellis van Creveld syndrome 2
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanBBS5129880Bardet-Biedl syndrome 5
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanUSH1G124590Usher syndrome 1G (autosomal recessive)
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanNIPA1123606non imprinted in Prader-Willi/Angelman syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanTTC8123016tetratricopeptide repeat domain 8
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanTUBGCP5114791tubulin, gamma complex associated protein 5
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanTMEM6791147transmembrane protein 67
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanBAGE285319B melanoma antigen family, member 2
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanARL684100ADP-ribosylation factor-like 6
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanKRTAP17-183902
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanINHBE83729inhibin, beta E
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanNIPA281614non imprinted in Prader-Willi/Angelman syndrome 2
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanWNT10A80326wingless-type MMTV integration site family, member 10A
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanCEP29080184centrosomal protein 290kDa
INFERRED, Score=800, UMLKSK CUI: C0000772
HumanBBS1079738Bardet-Biedl syndrome 10
INFERRED, Score=800, UMLKSK CUI: C0000772
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0000772Abnormalities, Multiple0self