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Details
Link-It Detail - Human Phenotype - Abnormality of the middle phalanx of the 5th finger
Debug Stats
  • ### Total Build Time: 39 ms 25.669 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 226 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=1 ms Completed: 1 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= 467 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 3.578 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 4.027 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 16.197 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.045 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the middle phalanx of the 5th finger HP:0004219
Parents (1)
img Abnormality of the phalanges of the 5th finger HP:0004213
Children (10)
img Symphalangism of middle phalanx of 5th finger HP:0009178
img Aplasia/Hypoplasia of the middle phalanx of the 5th finger HP:0009161
img Duplication of the middle phalanx of the 5th finger HP:0009989
img Broad middle phalanx of the 5th finger HP:0009169
img Abnormality of the epiphysis of the middle phalanx of the 5th finger HP:0004224
img Bullet-shaped middle phalanx of the 5th finger HP:0009168
img Patchy sclerosis of the middle phalanx of the 5th finger HP:0009175
img Osteolytic defects of the middle phalanx of the 5th finger HP:0009170
img Triangular shaped middle phalanx of the 5th finger HP:0009182
img Curved middle phalanx of the 5th finger HP:0009173
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:000011812img Abnormality of the phalanges of the 5th finger HP:0004213
img All HP:0000001img Phenotypic abnormality HP:000011810img Abnormality of the phalanges of the 5th finger HP:0004213
img All HP:0000001img Phenotypic abnormality HP:000011811img Abnormality of the phalanges of the 5th finger HP:0004213
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the phalanges of the 5th finger HP:0004213
Genes (19)

Species:
human : 19
SpeciesGeneGeneIdGene NameEvidence
HumanJAWAD100192306Microcephaly with digital anomalies
img HP RolledUp, OMIM ID: 251255
HumanMSSD619407syndactyly, mesoaxial synostotic, with phalangeal reduction
img HP RolledUp, OMIM ID: 609432
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP RolledUp, OMIM ID: 180860
HumanRSS140821Russell Silver syndrome
img HP RolledUp, OMIM ID: 180860
HumanNOG9241noggin
img HP RolledUp, OMIM ID: 184460
HumanGDF58200growth differentiation factor 5
img HP RolledUp, OMIM ID: 113100
img HP RolledUp, OMIM ID: 112600
HumanWNT5A7474wingless-type MMTV integration site family, member 5A
img HP RolledUp, OMIM ID: 180700
HumanTFAP2B7021transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
img HP RolledUp, OMIM ID: 169100
HumanRBBP85932retinoblastoma binding protein 8
img HP RolledUp, OMIM ID: 251255
HumanROR24920receptor tyrosine kinase-like orphan receptor 2
img HP RolledUp, OMIM ID: 268310
HumanMYCN4613v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
img HP RolledUp, OMIM ID: 164280
HumanMTR45485-methyltetrahydrofolate-homocysteine methyltransferase
img HP RolledUp, OMIM ID: 190685
HumanHOXD133239homeobox D13
img HP RolledUp, OMIM ID: 186000
HumanGJA12697gap junction protein, alpha 1, 43kDa
img HP RolledUp, OMIM ID: 164200
img HP RolledUp, OMIM ID: 186100
HumanGATA12623GATA binding protein 1 (globin transcription factor 1)
img HP RolledUp, OMIM ID: 190685
HumanDCR1637Down syndrome chromosome region
img HP RolledUp, OMIM ID: 190685
HumanRUNX2860runt-related transcription factor 2
img HP RolledUp, OMIM ID: 156510
HumanBMPR1B658bone morphogenetic protein receptor, type IB
img HP RolledUp, OMIM ID: 112600
HumanBMP2650bone morphogenetic protein 2
img HP RolledUp, OMIM ID: 112600
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004219Abnormality of the middle phalanx of the 5th finger0self