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Details
Link-It Detail - Human Phenotype - Abnormality of the patella
Debug Stats
  • ### Total Build Time: 44 ms 31.642 KB
  • CONCEPT_NAME gt=17 ms Completed: 17 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=5 ms Completed: 5 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 445 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 3.319 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.014 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 23.513 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)
Abnormality of the patella HP:0003045
Parents (1)
img Abnormality of the knees HP:0002815
Children (10)
img Irregular patellae HP:0006369
img Irregular patellar margins HP:0006458
img Lateral displacement of patellae HP:0006397
img Aplasia/Hypoplasia of the patella HP:0006498
img Osteolysis of patellae HP:0006378
img Patellar subluxation HP:0010499
img Bipartite patella HP:0010498
img Patellar dislocation HP:0002999
img Severely delayed patellae ossification HP:0006454
img Dysplastic patella HP:0006446
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:000011810img Abnormality of the knees HP:0002815
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the knees HP:0002815
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the knees HP:0002815
Genes (38)

Species:
human : 38
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL17Q23.1Q23.2100415941
img HP RolledUp, OMIM ID: 613355
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanSHFL1791121Split-hand/foot malformation with long bone deficiency 1
img HP RolledUp, OMIM ID: 119100
HumanMIPOL1145282mirror-image polydactyly 1
img HP RolledUp, OMIM ID: 135750
HumanCANT1124583calcium activated nucleotidase 1
img HP RolledUp, OMIM ID: 251450
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanCDT181620chromatin licensing and DNA replication factor 1
img HP RolledUp, OMIM ID: 613804
HumanIMPAD154928inositol monophosphatase domain containing 1
img HP RolledUp, OMIM ID: 614078
HumanRAB2351715RAB23, member RAS oncogene family
img HP RolledUp, OMIM ID: 201000
HumanMLXIPL51085MLX interacting protein-like
img HP RolledUp, OMIM ID: 194050
HumanORC623594origin recognition complex, subunit 6
img HP RolledUp, OMIM ID: 613803
HumanKAT6B23522K(lysine) acetyltransferase 6B
img HP RolledUp, OMIM ID: 606170
HumanEBP10682emopamil binding protein (sterol isomerase)
img HP RolledUp, OMIM ID: 302960
HumanRBM8A9939RNA binding motif protein 8A
img HP RolledUp, OMIM ID: 274000
HumanGTF2IRD19569GTF2I repeat domain containing 1
img HP RolledUp, OMIM ID: 194050
HumanTBX49496T-box 4
img HP RolledUp, OMIM ID: 147891
HumanRECQL49401RecQ protein-like 4
img HP RolledUp, OMIM ID: 218600
img HP RolledUp, OMIM ID: 268400
img HP RolledUp, OMIM ID: 266280
HumanPTLAH8830patella aplasia-hypoplasia
img HP RolledUp, OMIM ID: 168860
HumanGDF58200growth differentiation factor 5
img HP RolledUp, OMIM ID: 228900
img HP RolledUp, OMIM ID: 201250
img HP RolledUp, OMIM ID: 200700
HumanWNT7A7476wingless-type MMTV integration site family, member 7A
img HP RolledUp, OMIM ID: 228930
HumanSHOX6473short stature homeobox
img HP RolledUp, OMIM ID: 127300
HumanPRS5640Prieto X-linked mental retardation syndrome
img HP RolledUp, OMIM ID: 309610
HumanPITX15307paired-like homeodomain 1
img HP RolledUp, OMIM ID: 119800
HumanORC45000origin recognition complex, subunit 4
img HP RolledUp, OMIM ID: 613800
HumanORC14998origin recognition complex, subunit 1
img HP RolledUp, OMIM ID: 224690
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003045Abnormality of the patella0self