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Details
Link-It Detail - Human Phenotype - Abnormal epiphyseal ossification
Debug Stats
  • ### Total Build Time: 54 ms 33.268 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 207 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 235 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=7 ms Completed: 7 ms rowSize= 785 bytes
  • CONCEPT_CHILDREN gt=17 ms Completed: 17 ms rowSize= 2.752 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 4.901 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=22 ms Completed: 22 ms rowSize= 23.245 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.026 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal epiphyseal ossification HP:0010656
Definition (1)
An abnormality of the formation and mineralization of an `epiphysis` (FMA:24012).
Parents (2)
img Abnormality of bone mineral density HP:0004348
img Abnormal bone ossification HP:0011849
Children (8)
img Delayed epiphyseal ossification HP:0002663
img Neonatal epiphyseal stippling HP:0005756
img Premature fusion of phalangeal epiphyses HP:0006140
img Calcaneal epiphyseal stippling HP:0004695
img Epiphyseal stippling of finger phalanges HP:0010237
img Epiphyseal stippling of toe phalanges HP:0010171
img Epiphyseal stippling HP:0010655
img Pseudoepiphyses of the phalanges of the hand HP:0010235
Ancestral Roots
RootRoot Plus OneDepthParent
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 (43)

Species:
human : 43
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanACRPV414058Acropectorovertebral dysplasia (F syndrome)
img HP RolledUp, OMIM ID: 102510
HumanSUMF1285362sulfatase modifying factor 1
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
HumanPEX2655670peroxisomal biogenesis factor 26
img HP RolledUp, OMIM ID: 614872
img HP RolledUp, OMIM ID: 214100
HumanRAB2351715RAB23, member RAS oncogene family
img HP RolledUp, OMIM ID: 201000
HumanNSDHL50814NAD(P) dependent steroid dehydrogenase-like
img HP RolledUp, OMIM ID: 308050
HumanEBP10682emopamil binding protein (sterol isomerase)
img HP RolledUp, OMIM ID: 302960
HumanPEX169409peroxisomal biogenesis factor 16
img HP RolledUp, OMIM ID: 614876
HumanPAPSS290603'-phosphoadenosine 5'-phosphosulfate synthase 2
HumanAGPS8540alkylglycerone phosphate synthase
img HP RolledUp, OMIM ID: 600121
HumanPEX38504peroxisomal biogenesis factor 3
img HP RolledUp, OMIM ID: 614882
img HP RolledUp, OMIM ID: 214100
HumanGDF58200growth differentiation factor 5
img HP RolledUp, OMIM ID: 113100
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img HP RolledUp, OMIM ID: 277440
HumanTHRB7068thyroid hormone receptor, beta
img HP RolledUp, OMIM ID: 274300
HumanPEX55830peroxisomal biogenesis factor 5
img HP RolledUp, OMIM ID: 214100
HumanPEX25828peroxisomal biogenesis factor 2
img HP RolledUp, OMIM ID: 214100
img HP RolledUp, OMIM ID: 614866
HumanPEX195824peroxisomal biogenesis factor 19
img HP RolledUp, OMIM ID: 214100
HumanPTH1R5745parathyroid hormone 1 receptor
img HP RolledUp, OMIM ID: 600002
HumanPRKAR1A5573protein kinase, cAMP-dependent, regulatory, type I, alpha
img HP RolledUp, OMIM ID: 101800
HumanPEX145195peroxisomal biogenesis factor 14
img HP RolledUp, OMIM ID: 214100
HumanPEX135194peroxisomal biogenesis factor 13
img HP RolledUp, OMIM ID: 214100
HumanPEX125193peroxisomal biogenesis factor 12
img HP RolledUp, OMIM ID: 214100
img HP RolledUp, OMIM ID: 614859
HumanPEX105192peroxisomal biogenesis factor 10
img HP RolledUp, OMIM ID: 614870
img HP RolledUp, OMIM ID: 214100
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010656Abnormal epiphyseal ossification0self