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Details
Link-It Detail - Human Phenotype - Abnormality of the forearm
Debug Stats
  • ### Total Build Time: 41 ms 35.292 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 201 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=1 ms Completed: 1 ms rowSize= 450 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 8.204 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.096 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=31 ms Completed: 31 ms rowSize= 23.191 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the forearm HP:0002973
Parents (1)
img Abnormality of the upper limb HP:0002817
Children (25)
img Bone-in-a-bone appearance (forearm) HP:0003955
img Cortical thickening of the forearm bones HP:0003957
img Lytic defects of the forearm bones HP:0003963
img Cross-fusion of the forearm bones HP:0003958
img Sclerotic foci in forearm bones HP:0003966
img Deformed forearm bones HP:0003959
img Osteoporotic forearm bones HP:0003964
img Broad forearm bones HP:0003971
img Angulated forearm bones HP:0003954
img Bowed forearm bones HP:0003956
img Exostoses of the forearm bones HP:0003960
img Fractured forearm bones HP:0003961
img Aplasia/Hypoplasia involving forearm bones HP:0006503
img Abnormality of the radioulnar joints HP:0003059
img Sclerotic forearm bones HP:0003967
img Pseudarthrosis of the forearm bones HP:0003965
img Undermodelled forearm bones HP:0003970
img Abnormality of the ulna HP:0002997
img Absent ossification/absent forearm bones HP:0003953
img Slender forearm bones HP:0003969
img Dysplastic radii HP:0006433
img Forearm reduction defects HP:0006368
img Fused forearm bones HP:0003962
img Abnormality of the radius HP:0002818
img Ectopic respiratory mucosa HP:0100241
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the upper limb HP:0002817
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the upper limb HP:0002817
Genes (124)

Species:
human : 124
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL8Q13100526741Mesomelia-synostoses syndrome
img HP RolledUp, OMIM ID: 600383
HumanSHFM3100049542Split-hand/foot malformation 3
img HP RolledUp, OMIM ID: 246560
HumanSHFL1791121Split-hand/foot malformation with long bone deficiency 1
img HP RolledUp, OMIM ID: 119100
HumanIFITM5387733interferon induced transmembrane protein 5
img HP RolledUp, OMIM ID: 610967
HumanASXL1171023additional sex combs like 1 (Drosophila)
img HP RolledUp, OMIM ID: 605039
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP RolledUp, OMIM ID: 269000
HumanMIPOL1145282mirror-image polydactyly 1
img HP RolledUp, OMIM ID: 135750
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
HumanDBA2114086Diamond-Blackfan anemia 2
img HP RolledUp, OMIM ID: 105650
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanFAM58A92002family with sequence similarity 58, member A
img HP RolledUp, OMIM ID: 300707
HumanSCARF291179scavenger receptor class F, member 2
img HP RolledUp, OMIM ID: 600920
HumanSLX484464SLX4 structure-specific endonuclease subunit
img HP RolledUp, OMIM ID: 613951
HumanVANGL181839VANGL planar cell polarity protein 1
img HP RolledUp, OMIM ID: 600145
HumanDYNC2H179659dynein, cytoplasmic 2, heavy chain 1
img HP RolledUp, OMIM ID: 615087
HumanCOLEC1178989collectin sub-family member 11
img HP RolledUp, OMIM ID: 265050
HumanLMBR164327limb development membrane protein 1
img HP RolledUp, OMIM ID: 200500
HumanLEPRE164175leucine proline-enriched proteoglycan (leprecan) 1
img HP RolledUp, OMIM ID: 610915
HumanSALL457167sal-like 4 (Drosophila)
img HP RolledUp, OMIM ID: 147750
img HP RolledUp, OMIM ID: 607323
HumanCYP26B156603cytochrome P450, family 26, subfamily B, polypeptide 1
img HP RolledUp, OMIM ID: 614416
HumanCHD755636chromodomain helicase DNA binding protein 7
img HP RolledUp, OMIM ID: 214800
HumanBCOR54880BCL6 corepressor
img HP RolledUp, OMIM ID: 300166
HumanMLXIPL51085MLX interacting protein-like
img HP RolledUp, OMIM ID: 194050
HumanTBX2250945T-box 22
img HP RolledUp, OMIM ID: 302905
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002973Abnormality of the forearm0self