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Details
Link-It Detail - Human Phenotype - Abnormal finger flexion creases
Debug Stats
  • ### Total Build Time: 32 ms 19.788 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 206 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= 442 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 1.124 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.928 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 12.934 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.025 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal finger flexion creases HP:0006143
Parents (1)
img Abnormality of finger HP:0001167
Children (3)
img Aplasia/Hypoplastia of the interphalangeal creases HP:0006031
img Absent phalangeal crease HP:0006109
img Absent dorsal skin creases over affected joints HP:0001049
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:000011810img Abnormality of finger HP:0001167
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of finger HP:0001167
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of finger HP:0001167
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of finger HP:0001167
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanJAWAD100192306Microcephaly with digital anomalies
img HP RolledUp, OMIM ID: 251255
HumanBDA1B246260Brachydactyly, type A1, locus B
img HP RolledUp, OMIM ID: 112500
HumanNOG9241noggin
img HP RolledUp, OMIM ID: 611377
img HP RolledUp, OMIM ID: 186500
HumanWNT7A7476wingless-type MMTV integration site family, member 7A
img HP PCS, OMIM ID: 228930
HumanTPM27169tropomyosin 2 (beta)
img HP RolledUp, OMIM ID: 601680
img HP RolledUp, OMIM ID: 108120
HumanTNNT37140troponin T type 3 (skeletal, fast)
img HP RolledUp, OMIM ID: 601680
HumanTNNI27136troponin I type 2 (skeletal, fast)
img HP RolledUp, OMIM ID: 601680
HumanTBX156913T-box 15
img HP RolledUp, OMIM ID: 260660
HumanRBBP85932retinoblastoma binding protein 8
img HP RolledUp, OMIM ID: 251255
HumanMASP15648mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
img HP RolledUp, OMIM ID: 257920
HumanMYH34621myosin, heavy chain 3, skeletal muscle, embryonic
img HP RolledUp, OMIM ID: 601680
HumanLMX1B4010LIM homeobox transcription factor 1, beta
img HP RolledUp, OMIM ID: 161200
HumanIHH3549indian hedgehog
img HP RolledUp, OMIM ID: 112500
HumanHOXD133239homeobox D13
img HP RolledUp, OMIM ID: 186300
HumanATR545ataxia telangiectasia and Rad3 related
img HP IEA, OMIM ID: 210600
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0006143Abnormal finger flexion creases0self