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Details
Link-It Detail - Human Phenotype - Abnormality of the distal phalanx of finger
Debug Stats
  • ### Total Build Time: 45 ms 34.797 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 218 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=0 Completed: 0 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= 453 bytes
  • CONCEPT_CHILDREN gt=16 ms Completed: 16 ms rowSize= 5.481 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.972 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 23.507 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.037 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the distal phalanx of finger HP:0009832
Parents (1)
img Abnormality of phalanx of finger HP:0005918
Children (16)
img Drumstick terminal phalanges HP:0006129
img Bullet-shaped distal phalanges of the hand HP:0009837
img Aplasia/Hypoplasia of the distal phalanges of the hand HP:0009835
img Tapered distal phalanges of finger HP:0009884
img Patchy sclerosis of the distal phalanges of the hand HP:0009840
img Distal symphalangism (hands) HP:0001204
img Chess-pawn distal phalanges HP:0006170
img Slender distal phalanx of finger HP:0012296
img Abnormality of the epiphyses of the distal phalanx of finger HP:0010243
img Triangular shaped distal phalanges of the hand HP:0009875
img Curved distal phalanges of the hand HP:0009838
img Osteolytic defects of the distal phalanges of the hand HP:0009839
img Sclerosis of the distal phalanges of the hand HP:0100915
img Broad distal phalanx of finger HP:0009836
img Long distal phalanx of finger HP:0012299
img Duplication of the distal phalanx of hand HP:0009883
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:000011811img Abnormality of phalanx of finger HP:0005918
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of phalanx of finger HP:0005918
img All HP:0000001img Phenotypic abnormality HP:000011810img Abnormality of phalanx of finger HP:0005918
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of phalanx of finger HP:0005918
Genes (77)

Species:
human : 77
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanC22DDELS100188856Chromosome 22q11.2 deletion syndrome, distal
img HP RolledUp, OMIM ID: 611867
HumanACRPV414058Acropectorovertebral dysplasia (F syndrome)
img HP RolledUp, OMIM ID: 102510
HumanKIF7374654kinesin family member 7
img HP RolledUp, OMIM ID: 200990
HumanZLS353173Zimmerman-Laband Syndrome
img HP RolledUp, OMIM ID: 135500
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP RolledUp, OMIM ID: 180860
HumanBDA1B246260Brachydactyly, type A1, locus B
img HP RolledUp, OMIM ID: 112500
img HP RolledUp, OMIM ID: 607004
HumanRSS140821Russell Silver syndrome
img HP RolledUp, OMIM ID: 180860
HumanEVC2132884Ellis van Creveld syndrome 2
img HP RolledUp, OMIM ID: 225500
HumanB3GALT6126792UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
img HP RolledUp, OMIM ID: 271640
HumanCANT1124583calcium activated nucleotidase 1
img HP RolledUp, OMIM ID: 251450
HumanPHF684295PHD finger protein 6
img HP RolledUp, OMIM ID: 301900
HumanLMBR164327limb development membrane protein 1
img HP RolledUp, OMIM ID: 174500
HumanFAM111A63901family with sequence similarity 111, member A
img HP RolledUp, OMIM ID: 602361
HumanSPG1657760spastic paraplegia 16 (complicated, X-linked recessive)
img HP RolledUp, OMIM ID: 300266
HumanWDR1957728WD repeat domain 19
img HP RolledUp, OMIM ID: 614378
HumanSDTY157306Syndactyly, type I
img HP RolledUp, OMIM ID: 185900
HumanIFT12255764intraflagellar transport 122 homolog (Chlamydomonas)
img HP RolledUp, OMIM ID: 218330
HumanPIGV55650phosphatidylinositol glycan anchor biosynthesis, class V
img HP RolledUp, OMIM ID: 239300
HumanB3GAT326229beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
img HP RolledUp, OMIM ID: 245600
HumanSETBP126040SET binding protein 1
img HP RolledUp, OMIM ID: 269150
HumanPOC1A25886POC1 centriolar protein A
img HP RolledUp, OMIM ID: 614813
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
img HP TAS, OMIM ID: 212720
HumanFTSJ124140FtsJ RNA methyltransferase homolog 1 (E. coli)
img HP IEA, OMIM ID: 309549
HumanSTAMBP10617STAM binding protein
img HP RolledUp, OMIM ID: 614261
HumanZMPSTE2410269zinc metallopeptidase STE24
img HP RolledUp, OMIM ID: 176670
img HP RolledUp, OMIM ID: 608612
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0009832Abnormality of the distal phalanx of finger0self