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Details
Link-It Detail - Human Phenotype - Abnormality of the epiphyses
Debug Stats
  • ### Total Build Time: 46 ms 35.590 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 203 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=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= 793 bytes
  • CONCEPT_CHILDREN gt=14 ms Completed: 14 ms rowSize= 6.493 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.106 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=27 ms Completed: 27 ms rowSize= 24.851 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.022 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the epiphyses HP:0005930
Parents (2)
img Abnormality of the skeletal system HP:0000924
img Abnormality of long bone morphology HP:0011314
Children (20)
img Enlarged epiphyses HP:0010580
img Epiphyseal deformities of tubular bones HP:0003053
img Flattened epiphyses HP:0003071
img Triangular epiphyses HP:0010587
img Small epiphyses HP:0010585
img Epiphyseal stippling HP:0010655
img Abnormality of the vertebral epiphyses HP:0100734
img Splayed epiphyses HP:0200003
img Absent epiphyses HP:0010577
img Pseudoepiphyses HP:0010584
img Epiphyseal dysplasia HP:0002656
img Abnormality involving the epiphyses of the limbs HP:0006505
img Delayed epiphyseal ossification HP:0002663
img Ivory epiphyses HP:0010583
img Bracket epiphyses HP:0010578
img Premature epimetaphyseal fusion HP:0010588
img Epiphyseal streaking HP:0004990
img Cone-shaped epiphysis HP:0010579
img Irregular epiphyses HP:0010582
img Fragmented epiphyses HP:0100168
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 Abnormality of long bone morphology HP:0011314
Genes (140)

Species:
human : 140
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCATMANS100862706Catel-Manzke syndrome
img HP TAS, OMIM ID: 302380
HumanRCHTS100462676Roifman-Chitayat syndrome
img HP RolledUp, OMIM ID: 613328
HumanDEL17Q23.1Q23.2100415941
img HP TAS, OMIM ID: 613355
HumanDEL6PTER100270803Chromosome 6pter deletion syndrome
img HP TAS, OMIM ID: 612582
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanACRPV414058Acropectorovertebral dysplasia (F syndrome)
img HP RolledUp, OMIM ID: 102510
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanMMEDF260403Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
img HP TAS, OMIM ID: 607131
HumanBDA1B246260Brachydactyly, type A1, locus B
img HP RolledUp, OMIM ID: 112500
img HP RolledUp, OMIM ID: 607004
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
img HP RolledUp, OMIM ID: 241530
HumanEVC2132884Ellis van Creveld syndrome 2
img HP RolledUp, OMIM ID: 225500
HumanB3GALT6126792UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
img HP TAS, OMIM ID: 271640
HumanCANT1124583calcium activated nucleotidase 1
img HP RolledUp, OMIM ID: 251450
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
img HP RolledUp, OMIM ID: 600081
HumanGORAB92344golgin, RAB6-interacting
img HP TAS, OMIM ID: 231070
HumanSLC39A1391252solute carrier family 39 (zinc transporter), member 13
img HP TAS, OMIM ID: 612350
HumanGNPTG84572N-acetylglucosamine-1-phosphate transferase, gamma subunit
img HP RolledUp, OMIM ID: 252605
HumanDYNC2H179659dynein, cytoplasmic 2, heavy chain 1
img HP RolledUp, OMIM ID: 613091
HumanPORCN64840porcupine homolog (Drosophila)
img HP TAS, OMIM ID: 305600
HumanLMBR164327limb development membrane protein 1
img HP TAS, OMIM ID: 200500
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP TAS, OMIM ID: 184252
img HP RolledUp, OMIM ID: 156530
img HP TAS, OMIM ID: 168400
HumanRFMN57788Roifman syndrome
img HP RolledUp, OMIM ID: 300258
HumanTMEM16555858transmembrane protein 165
img HP RolledUp, OMIM ID: 614727
HumanIFT12255764intraflagellar transport 122 homolog (Chlamydomonas)
img HP RolledUp, OMIM ID: 218330
HumanPEX2655670peroxisomal biogenesis factor 26
img HP RolledUp, OMIM ID: 614872
img HP TAS, OMIM ID: 266510
img HP RolledUp, OMIM ID: 214100
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0005930Abnormality of the epiphyses0self