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Details
Link-It Detail - Human Phenotype - Abnormal bone ossification
Debug Stats
  • ### Total Build Time: 31 ms 28.210 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 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=4 ms Completed: 4 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= 444 bytes
  • CONCEPT_CHILDREN gt=7 ms Completed: 7 ms rowSize= 6.436 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=17 ms Completed: 17 ms rowSize= 17.896 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal bone ossification HP:0011849
Parents (1)
img Abnormal bone structure HP:0003330
Children (19)
img Absent ossification/Absence of the humeral epiphyses HP:0003892
img Irregular ossification of humeral metaphyses HP:0003914
img Absent in utero rib ossification HP:0006615
img Ectopic ossification HP:0011986
img Abnormal pelvis bone ossification HP:0009106
img Abnormal hand bone ossification HP:0010660
img Decreased skull ossification HP:0004331
img Irregular ossification of the radial metaphysis HP:0004020
img Abnormal vertebral ossification HP:0100569
img Absent humerus HP:0003862
img Calcific stippling of infantile cartilaginous skeleton HP:0005841
img Irregular ossification of the humeral epiphyses HP:0003897
img Severely delayed patellae ossification HP:0006454
img Abnormal sternal ossification HP:0011863
img Absent ossification/absent forearm bones HP:0003953
img Irregular ossification at anterior rib ends HP:0006598
img Abnormal epiphyseal ossification HP:0010656
img Abnormal foot bone ossification HP:0010675
img Abnormal ossification involving the femoral head and neck HP:0009107
Ancestral Roots
RootRoot Plus OneDepthParent
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 (143)

Species:
human : 143
Page Size
Current 25
  Page 1 of 6
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCATMANS100862706Catel-Manzke syndrome
HumanSHFL1791121Split-hand/foot malformation with long bone deficiency 1
HumanPSS780904Potocki-Shaffer syndrome
img HP RolledUp, OMIM ID: 601224
HumanACRPV414058Acropectorovertebral dysplasia (F syndrome)
HumanSUMF1285362sulfatase modifying factor 1
HumanBMPER168667BMP binding endothelial regulator
img HP RolledUp, OMIM ID: 608022
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
HumanMIPOL1145282mirror-image polydactyly 1
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
HumanB3GALT6126792UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
img HP RolledUp, OMIM ID: 271640
HumanCANT1124583calcium activated nucleotidase 1
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
HumanANTXR184168anthrax toxin receptor 1
img HP RolledUp, OMIM ID: 230740
HumanWNK165125WNK lysine deficient protein kinase 1
HumanCMDR64588Craniometaphyseal dysplasia, autosomal recessive
HumanLMBR164327limb development membrane protein 1
HumanLEPRE164175leucine proline-enriched proteoglycan (leprecan) 1
img HP RolledUp, OMIM ID: 610915
HumanFAM111A63901family with sequence similarity 111, member A
img HP RolledUp, OMIM ID: 602361
HumanSLC25A1960386solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
img HP RolledUp, OMIM ID: 607196
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP RolledUp, OMIM ID: 168400
HumanSALL457167sal-like 4 (Drosophila)
HumanPEX2655670peroxisomal biogenesis factor 26
img HP RolledUp, OMIM ID: 614872
img HP RolledUp, OMIM ID: 214100
HumanPIGV55650phosphatidylinositol glycan anchor biosynthesis, class V
HumanCHD755636chromodomain helicase DNA binding protein 7
HumanDYM54808dymeclin
img HP RolledUp, OMIM ID: 223800
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011849Abnormal bone ossification0self