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Details
Link-It Detail - Human Phenotype - Abnormal ossification of hand bones
Debug Stats
  • ### Total Build Time: 20 ms 13.459 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 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=5 ms Completed: 5 ms rowSize= 444 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 2.774 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=6 ms Completed: 6 ms rowSize= 6.788 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)
Abnormal ossification of hand bones HP:0005921
Parents (1)
img Abnormality of the hand HP:0001155
Children (8)
img Multiple carpal ossification centers HP:0006067
img Deficient ossification of hand bones HP:0004274
img Advanced ossification of the hand bones HP:0004051
img Stippled calcification of hand bones HP:0004291
img Delayed ossification of the hand bones HP:0004052
img Irregular ossification of hand bones HP:0004280
img Dysharmonic maturation of the hand bones HP:0004053
img Irregular sclerosis of hand bones HP:0004281
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the hand HP:0001155
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the hand HP:0001155
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanCMDR64588Craniometaphyseal dysplasia, autosomal recessive
img HP RolledUp, OMIM ID: 218400
HumanNSD164324nuclear receptor binding SET domain protein 1
img HP RolledUp, OMIM ID: 117550
HumanODPF54114Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula
img HP IEA, OMIM ID: 300244
HumanCHST39469carbohydrate (chondroitin 6) sulfotransferase 3
img HP RolledUp, OMIM ID: 143095
HumanPTCH15727patched 1
img HP RolledUp, OMIM ID: 109400
HumanGJA12697gap junction protein, alpha 1, 43kDa
img HP RolledUp, OMIM ID: 218400
HumanFLNB2317filamin B, beta
img HP RolledUp, OMIM ID: 150250
HumanFLNA2316filamin A, alpha
img HP IEA, OMIM ID: 300244
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0005921Abnormal ossification of hand bones0self