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Details
Link-It Detail - Human Phenotype - Abnormal hand bone ossification
Debug Stats
  • ### Total Build Time: 23 ms 32.662 KB
  • CONCEPT_NAME gt=2 ms Completed: 1 ms rowSize= 206 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 255 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=0 Completed: 0 ms rowSize= 1.086 KB
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 4.763 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.752 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 18.441 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.025 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal hand bone ossification HP:0010660
Definition (1)
An abnormality of the formation and mineralization of any bone of the `skeleton of hand` (FMA:24159).
Parents (3)
img Abnormality of the hand HP:0001155
img Abnormality of bone mineral density HP:0004348
img Abnormal bone ossification HP:0011849
Children (14)
img Ivory epiphyses of the phalanges of the hand HP:0010234
img Epiphyseal stippling of finger phalanges HP:0010237
img Epiphyseal stippling of the metacarpals HP:0009195
img Metacarpal diaphyseal endosteal sclerosis HP:0006174
img Osteolysis of scaphoids HP:0006202
img Ivory epiphyses of the metacarpals HP:0009191
img Abnormal calcification of the carpal bones HP:0009164
img Patchy sclerosis of the 1st metacarpal HP:0010031
img Irregular ossification of hand bones HP:0004280
img Carpal osteolysis HP:0001495
img Abnormality of carpal bone ossification HP:0006257
img Sclerosis of hand bones HP:0004054
img Osteolytic defects of the phalanges of the hand HP:0009771
img Patchy sclerosis of the phalanges of the hand HP:0009772
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
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of bone mineral density HP:0004348
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of bone mineral density HP:0004348
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of bone mineral density HP:0004348
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormal bone ossification HP:0011849
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormal bone ossification HP:0011849
Genes (39)

Species:
human : 39
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanB3GALT6126792UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
img HP RolledUp, OMIM ID: 271640
HumanCANT1124583calcium activated nucleotidase 1
HumanWNK165125WNK lysine deficient protein kinase 1
img HP RolledUp, OMIM ID: 201300
HumanCMDR64588Craniometaphyseal dysplasia, autosomal recessive
img HP RolledUp, OMIM ID: 218400
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
HumanPIGV55650phosphatidylinositol glycan anchor biosynthesis, class V
HumanFAM134B54463family with sequence similarity 134, member B
img HP RolledUp, OMIM ID: 613115
HumanSLC35D123169solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
HumanEBP10682emopamil binding protein (sterol isomerase)
img HP RolledUp, OMIM ID: 302960
HumanZMPSTE2410269zinc metallopeptidase STE24
HumanMAFB9935v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
img HP RolledUp, OMIM ID: 166300
HumanCHST39469carbohydrate (chondroitin 6) sulfotransferase 3
img HP RolledUp, OMIM ID: 143095
HumanTRIP119321thyroid hormone receptor interactor 11
img HP TAS, OMIM ID: 200600
HumanBANF18815barrier to autointegration factor 1
img HP RolledUp, OMIM ID: 614008
HumanTRPS17227trichorhinophalangeal syndrome I
img HP RolledUp, OMIM ID: 190350
HumanRMRP6023RNA component of mitochondrial RNA processing endoribonuclease
HumanPTH1R5745parathyroid hormone 1 receptor
HumanPTCH15727patched 1
img HP RolledUp, OMIM ID: 109400
HumanDDR24921discoidin domain receptor tyrosine kinase 2
img HP RolledUp, OMIM ID: 271665
HumanNOTCH24853notch 2
img HP RolledUp, OMIM ID: 102500
HumanMMP24313matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
img HP RolledUp, OMIM ID: 259600
HumanMATN34148matrilin 3
HumanLRP54041low density lipoprotein receptor-related protein 5
img HP RolledUp, OMIM ID: 144750
HumanLMNA4000lamin A/C
HumanIHH3549indian hedgehog
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010660Abnormal hand bone ossification0self