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Details
Link-It Detail - Human Phenotype - Abnormality of the epiphyses of the hand
Debug Stats
  • ### Total Build Time: 17 ms 31.890 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 215 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 801 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.764 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 3.995 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 23.960 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.034 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the epiphyses of the hand HP:0005924
Parents (2)
img Abnormality involving the epiphyses of the upper limbs HP:0003839
img Abnormality of the hand HP:0001155
Children (5)
img Rounded epiphyses HP:0006026
img Pseudoepiphyses of hand bones HP:0004288
img Abnormality of the epiphyses of the phalanges of the hand HP:0005920
img Abnormality of metacarpal epiphyses HP:0005913
img Ivory and cone-shaped epiphyses HP:0006078
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality involving the epiphyses of the upper limbs HP:0003839
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality involving the epiphyses of the upper limbs HP:0003839
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the hand HP:0001155
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the hand HP:0001155
Genes (33)

Species:
human : 33
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanACRPV414058Acropectorovertebral dysplasia (F syndrome)
img HP RolledUp, OMIM ID: 102510
HumanBDA1B246260Brachydactyly, type A1, locus B
img HP RolledUp, OMIM ID: 607004
img HP RolledUp, OMIM ID: 112500
HumanEVC2132884Ellis van Creveld syndrome 2
img HP RolledUp, OMIM ID: 225500
HumanDYM54808dymeclin
img HP RolledUp, OMIM ID: 223800
HumanRAB2351715RAB23, member RAS oncogene family
img HP RolledUp, OMIM ID: 201000
HumanSRCAP10847Snf2-related CREBBP activator protein
img HP RolledUp, OMIM ID: 136140
HumanEIF2AK39451eukaryotic translation initiation factor 2-alpha kinase 3
img HP RolledUp, OMIM ID: 226980
HumanGDF58200growth differentiation factor 5
img HP RolledUp, OMIM ID: 112600
img HP RolledUp, OMIM ID: 113100
HumanCRSA7885Craniosynostosis, Adelaide type
img HP RolledUp, OMIM ID: 600593
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
img HP RolledUp, OMIM ID: 194190
HumanWHCR7467Wolf-Hirschhorn syndrome chromosome region
img HP RolledUp, OMIM ID: 194190
HumanTRPS17227trichorhinophalangeal syndrome I
img HP RolledUp, OMIM ID: 150230
img HP RolledUp, OMIM ID: 190350
img HP RolledUp, OMIM ID: 190351
HumanSALL16299sal-like 1 (Drosophila)
img HP RolledUp, OMIM ID: 107480
HumanRMRP6023RNA component of mitochondrial RNA processing endoribonuclease
img HP RolledUp, OMIM ID: 250460
HumanPRKAR1A5573protein kinase, cAMP-dependent, regulatory, type I, alpha
img HP RolledUp, OMIM ID: 101800
HumanPCNT5116pericentrin
img HP RolledUp, OMIM ID: 210720
HumanNPR24882natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)
img HP RolledUp, OMIM ID: 602875
HumanMGP4256matrix Gla protein
img HP RolledUp, OMIM ID: 245150
HumanIHH3549indian hedgehog
img HP RolledUp, OMIM ID: 112500
img HP RolledUp, OMIM ID: 607778
HumanFLNA2316filamin A, alpha
img HP RolledUp, OMIM ID: 309350
HumanFGFR32261fibroblast growth factor receptor 3
img HP RolledUp, OMIM ID: 602849
HumanEXT12131exostosin glycosyltransferase 1
img HP RolledUp, OMIM ID: 150230
HumanEVC2121Ellis van Creveld syndrome
img HP RolledUp, OMIM ID: 225500
HumanERCC62074excision repair cross-complementing rodent repair deficiency, complementation group 6
img HP RolledUp, OMIM ID: 133540
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0005924Abnormality of the epiphyses of the hand0self