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Details
Link-It Detail - Human Phenotype - Abnormal cortical bone morphology
Debug Stats
  • ### Total Build Time: 15 ms 30.539 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 208 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 269 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
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 2.364 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 3.021 KB
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  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 22.754 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.027 KB
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  • Reload Stats
Human Phenotype (1)
Abnormal cortical bone morphology HP:0003103
Definition (1)
An abnormality of `compact bone` (FMA:24018) (also known as cortical bone), which forms the dense surface of bones.
Parents (2)
img Abnormality of the skeletal system HP:0000924
img Abnormal bone structure HP:0003330
Children (7)
img Abnormalities of the cortex of hand bones HP:0005926
img Thin bony cortex HP:0002753
img Pseudo-fractures HP:0100036
img Cortical irregularity HP:0005731
img Thickened cortex of bones HP:0100039
img Cortical sclerosis HP:0005652
img Abnormality of the cortex of the humerus HP:0010629
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the skeletal system HP:0000924
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormal bone structure HP:0003330
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormal bone structure HP:0003330
Genes (29)

Species:
human : 29
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSH3PXD2B285590SH3 and PX domains 2B
img HP RolledUp, OMIM ID: 249420
HumanWDR62284403WD repeat domain 62
img HP TAS, OMIM ID: 251200
HumanANO5203859anoctamin 5
img HP TAS, OMIM ID: 166260
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
img HP RolledUp, OMIM ID: 241530
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
img HP RolledUp, OMIM ID: 600081
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
img HP RolledUp, OMIM ID: 277600
HumanMCPH179648microcephalin 1
img HP TAS, OMIM ID: 251200
HumanFAM111A63901family with sequence similarity 111, member A
img HP RolledUp, OMIM ID: 127000
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP TAS, OMIM ID: 156530
HumanSOST50964sclerostin
img HP RolledUp, OMIM ID: 239100
img HP RolledUp, OMIM ID: 269500
HumanNSDHL50814NAD(P) dependent steroid dehydrogenase-like
img HP IEA, OMIM ID: 300831
HumanSETBP126040SET binding protein 1
img HP TAS, OMIM ID: 269150
HumanCEP15222995centrosomal protein 152kDa
img HP TAS, OMIM ID: 251200
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img HP RolledUp, OMIM ID: 277440
HumanTGFB17040transforming growth factor, beta 1
img HP RolledUp, OMIM ID: 131300
HumanTBXAS16916thromboxane A synthase 1 (platelet)
img HP TAS, OMIM ID: 231095
HumanPEX195824peroxisomal biogenesis factor 19
img HP IEA, OMIM ID: 614886
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img HP RolledUp, OMIM ID: 300009
HumanLRP54041low density lipoprotein receptor-related protein 5
img HP TAS, OMIM ID: 144750
img HP RolledUp, OMIM ID: 607636
HumanLIFR3977leukemia inhibitory factor receptor alpha
img HP TAS, OMIM ID: 601559
HumanHPGD3248hydroxyprostaglandin dehydrogenase 15-(NAD)
img HP TAS, OMIM ID: 259100
HumanGLE12733GLE1 RNA export mediator
img HP TAS, OMIM ID: 253310
HumanFLNA2316filamin A, alpha
img HP TAS, OMIM ID: 309350
HumanFBN12200fibrillin 1
img HP RolledUp, OMIM ID: 608328
HumanCYP27B11594cytochrome P450, family 27, subfamily B, polypeptide 1
img HP RolledUp, OMIM ID: 264700
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003103Abnormal cortical bone morphology0self