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Details
Link-It Detail - Human Phenotype - Abnormality of the metacarpal bones
Debug Stats
  • ### Total Build Time: 25 ms 34.842 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 210 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=2 ms Completed: 2 ms rowSize= 444 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 7.036 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.084 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 23.909 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.029 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the metacarpal bones HP:0001163
Parents (1)
img Abnormality of the hand HP:0001155
Children (21)
img Aplasia/Hypoplasia involving the metacarpal bones HP:0005914
img Metacarpal osteolysis HP:0001504
img Thin metacarpal cortices HP:0006086
img Abnormality of the 4th metacarpal HP:0010012
img Abnormality of the 5th metacarpal HP:0010013
img Abnormality of metacarpophalangeal joint HP:0011911
img Metacarpal diaphyseal endosteal sclerosis HP:0006174
img Metacarpophalangeal joint contractures HP:0006070
img Expanded metacarpals with widened medullary cavities HP:0006232
img Abnormality of metacarpal epiphyses HP:0005913
img Distal widening of metacarpals HP:0006048
img Metacarpal periosteal thickening HP:0006051
img Metacarpophalangeal joint hyperextensibility HP:0006099
img Supernumerary metacarpal bones HP:0005917
img Metacarpal synostosis HP:0009701
img Abnormality of the 1st metacarpal HP:0010009
img Abnormal metacarpal morphology HP:0005916
img Subluxation of metacarpal phalangeal joints HP:0004294
img Abnormality of the 3rd metacarpal HP:0010011
img Long metacarpals HP:0010493
img Abnormality of the 2nd metacarpal HP:0010010
Ancestral Roots
RootRoot Plus OneDepthParent
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 (117)

Species:
human : 117
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanPAPA5101241897Polydactyly, postaxial, type A5
img HP RolledUp, OMIM ID: 263450
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP TAS, OMIM ID: 300863
HumanDEL8Q21.11100689491
img HP TAS, OMIM ID: 614230
HumanDEL8Q13100526741Mesomelia-synostoses syndrome
img HP TAS, OMIM ID: 600383
HumanRCHTS100462676Roifman-Chitayat syndrome
img HP RolledUp, OMIM ID: 613328
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanSHFM3100049542Split-hand/foot malformation 3
img HP TAS, OMIM ID: 246560
HumanMSSD619407syndactyly, mesoaxial synostotic, with phalangeal reduction
img HP TAS, OMIM ID: 609432
HumanLRSL406214Larsen-like syndrome
img HP TAS, OMIM ID: 608545
HumanBDA1B246260Brachydactyly, type A1, locus B
img HP RolledUp, OMIM ID: 607004
img HP RolledUp, OMIM ID: 112500
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img HP RolledUp, OMIM ID: 216550
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP IEA, OMIM ID: 268300
HumanGNAS-AS1149775
img HP RolledUp, OMIM ID: 603233
HumanMIPOL1145282mirror-image polydactyly 1
img HP TAS, OMIM ID: 135750
HumanB3GALTL145173beta 1,3-galactosyltransferase-like
img HP RolledUp, OMIM ID: 261540
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
HumanSLC39A1391252solute carrier family 39 (zinc transporter), member 13
img HP RolledUp, OMIM ID: 612350
HumanSCARF291179scavenger receptor class F, member 2
img HP RolledUp, OMIM ID: 600920
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
img HP RolledUp, OMIM ID: 277600
HumanPORCN64840porcupine homolog (Drosophila)
img HP RolledUp, OMIM ID: 305600
HumanSIL164374SIL1 nucleotide exchange factor
img HP TAS, OMIM ID: 248800
HumanLMBR164327limb development membrane protein 1
img HP TAS, OMIM ID: 174500
img HP RolledUp, OMIM ID: 200500
img HP TAS, OMIM ID: 186200
HumanLEPRE164175leucine proline-enriched proteoglycan (leprecan) 1
img HP RolledUp, OMIM ID: 610915
HumanSMOC164093SPARC related modular calcium binding 1
img HP TAS, OMIM ID: 206920
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001163Abnormality of the metacarpal bones0self