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Details
Link-It Detail - Human Phenotype - Abnormality of the epiphyses of the phalanges of the hand
Debug Stats
  • ### Total Build Time: 24 ms 39.429 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 232 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=NONE 1 ms 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= 796 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 7.333 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.856 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 24.040 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.051 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the epiphyses of the phalanges of the hand HP:0005920
Parents (2)
img Abnormality of phalanx of finger HP:0005918
img Abnormality of the epiphyses of the hand HP:0005924
Children (21)
img Abnormality of the epiphyses of the 2nd finger HP:0006263
img Irregular epiphyses of the phalanges of the hand HP:0010233
img Triangular epiphyses of the phalanges of the hand HP:0010238
img Ivory epiphyses of the phalanges of the hand HP:0010234
img Epiphyseal stippling of finger phalanges HP:0010237
img Bracket epiphyses of the phalanges of the hand HP:0010229
img Abnormality of the epiphyses of the 3rd finger HP:0009320
img Enlarged epiphyses of the phalanges of the hand HP:0010231
img Fragmentation of the epiphyses of the phalanges of the hand HP:0010232
img Small epiphyses of the phalanges of the hand HP:0010236
img Abnormality of the epiphyses of the middle phalanges of the hand HP:0010244
img Cone-shaped epiphyses of the phalanges of the hand HP:0010230
img Pseudoepiphyses of the phalanges of the hand HP:0010235
img Abnormality of the epiphyses of the distal phalanx of finger HP:0010243
img Abnormality of the epiphyses of the 5th finger HP:0009152
img Premature fusion of phalangeal epiphyses HP:0006140
img Thin proximal phalanges with broad epiphyses HP:0006213
img Abnormality of the epiphyses of the 4th finger HP:0009174
img Abnormality of the epiphyses of the thumb HP:0009599
img Absent epiphyses of the phalanges of the hand HP:0010228
img Abnormality of the epiphyses of the proximal phalanges of the hand HP:0010245
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of phalanx of finger HP:0005918
img All HP:0000001img Phenotypic abnormality HP:000011811img Abnormality of phalanx of finger HP:0005918
img All HP:0000001img Phenotypic abnormality HP:00001188img 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 the epiphyses of the hand HP:0005924
img All HP:0000001img Phenotypic abnormality HP:000011810img Abnormality of the epiphyses of the hand HP:0005924
Genes (28)

Species:
human : 28
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
HumanTRPS17227trichorhinophalangeal syndrome I
img HP RolledUp, OMIM ID: 190350
img HP RolledUp, OMIM ID: 150230
img HP RolledUp, OMIM ID: 190351
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
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
HumanCOL2A11280collagen, type II, alpha 1
img HP RolledUp, OMIM ID: 271700
HumanERCC81161excision repair cross-complementing rodent repair deficiency, complementation group 8
img HP RolledUp, OMIM ID: 216400
HumanRUNX2860runt-related transcription factor 2
img HP RolledUp, OMIM ID: 119600
HumanBMPR1B658bone morphogenetic protein receptor, type IB
img HP RolledUp, OMIM ID: 112600
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0005920Abnormality of the epiphyses of the phalanges of the hand0self