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Details
Link-It Detail - Human Phenotype - Abnormality involving the epiphyses of the upper limbs
Debug Stats
  • ### Total Build Time: 28 ms 25.571 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 229 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=5 ms Completed: 5 ms rowSize= 801 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 4.106 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 3.995 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 15.271 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.048 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality involving the epiphyses of the upper limbs HP:0003839
Parents (2)
img Abnormality involving the epiphyses of the limbs HP:0006505
img Abnormality of the upper limb HP:0002817
Children (12)
img Abnormality of radial epiphyses HP:0003999
img Small epiphyses of the upper limbs HP:0003844
img Abnormality of the humeral epiphysis HP:0003891
img Fragmented epiphyses of the upper limbs HP:0003841
img Abnormality of the epiphyses of the hand HP:0005924
img Wide epiphyseal plates of the upper limbs HP:0003846
img Abnormality of the epiphyses of the elbow HP:0003946
img Abnormality of the ulnar epiphyses HP:0004037
img Delayed upper limb epiphyseal ossification HP:0003840
img Irregular epiphyses of the upper limbs HP:0003842
img Wide epiphyses of the upper limbs HP:0003904
img Round epiphyses of the upper limbs HP:0003843
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality involving the epiphyses of the limbs HP:0006505
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality involving the epiphyses of the limbs HP:0006505
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the upper limb HP:0002817
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the upper limb HP:0002817
Genes (34)

Species:
human : 34
Page Size
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SpeciesGeneGeneIdGene NameEvidence
HumanCATMANS100862706Catel-Manzke syndrome
HumanACRPV414058Acropectorovertebral dysplasia (F syndrome)
HumanBDA1B246260Brachydactyly, type A1, locus B
HumanEVC2132884Ellis van Creveld syndrome 2
HumanDYM54808dymeclin
img HP RolledUp, OMIM ID: 223800
HumanRAB2351715RAB23, member RAS oncogene family
img HP RolledUp, OMIM ID: 201000
HumanSRCAP10847Snf2-related CREBBP activator protein
HumanEIF2AK39451eukaryotic translation initiation factor 2-alpha kinase 3
HumanGNPAT8443glyceronephosphate O-acyltransferase
img HP RolledUp, OMIM ID: 222765
HumanGDF58200growth differentiation factor 5
HumanCRSA7885Craniosynostosis, Adelaide type
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
HumanSALL16299sal-like 1 (Drosophila)
img HP RolledUp, OMIM ID: 107480
HumanRMRP6023RNA component of mitochondrial RNA processing endoribonuclease
HumanPRKAR1A5573protein kinase, cAMP-dependent, regulatory, type I, alpha
HumanPCNT5116pericentrin
img HP RolledUp, OMIM ID: 210720
HumanNPR24882natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)
HumanMGP4256matrix Gla protein
HumanIHH3549indian hedgehog
HumanFLNA2316filamin A, alpha
HumanFGFR32261fibroblast growth factor receptor 3
HumanEXT12131exostosin glycosyltransferase 1
HumanEVC2121Ellis van Creveld syndrome
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003839Abnormality involving the epiphyses of the upper limbs0self