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Details
Link-It Detail - Human Phenotype - Abnormality of skeletal physiology
Debug Stats
  • ### Total Build Time: 38 ms 24.635 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 209 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 222 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=6 ms Completed: 6 ms rowSize= 455 bytes
  • CONCEPT_CHILDREN gt=7 ms Completed: 7 ms rowSize= 2.010 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.170 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 19.417 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.028 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of skeletal physiology HP:0011843
Definition (1)
An abnormality of the function of the `skeletal system` (FMA:23881).
Parents (1)
img Abnormality of the skeletal system HP:0000924
Children (6)
img Osteomyelitis HP:0002754
img Abnormality of skeletal maturation HP:0000927
img Limb pain HP:0009763
img Aseptic necrosis HP:0010885
img Bone pain HP:0002653
img Increased susceptibility to fractures HP:0002659
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the skeletal system HP:0000924
Genes (298)

Species:
human : 298
Page Size
Current 25
  Page 1 of 12
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDUPXQ27.3Q28100874533
img HP RolledUp, OMIM ID: 300869
HumanFWS100529224Forsythe-Wakeling syndrome
img HP RolledUp, OMIM ID: 613606
HumanRJBS100528027Rajab syndrome
img HP RolledUp, OMIM ID: 613658
HumanDUPXQ28100415893Chromosome Xq28 duplication syndrome
img HP RolledUp, OMIM ID: 300815
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
HumanHPRHP100188880Hypophosphatemic rickets and hyperparathyroidism
img HP RolledUp, OMIM ID: 612089
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
HumanSNORD116-1100033413
img HP RolledUp, OMIM ID: 176270
HumanPWRN1791114Prader-Willi region non-protein coding RNA 1
img HP RolledUp, OMIM ID: 176270
HumanNCF1653361neutrophil cytosolic factor 1
HumanWTRS619509Wittwer syndrome
img HP RolledUp, OMIM ID: 300421
HumanLRSL406214Larsen-like syndrome
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img HP RolledUp, OMIM ID: 601675
HumanIFITM5387733interferon induced transmembrane protein 5
HumanSNORD115-1338433
img HP RolledUp, OMIM ID: 176270
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
HumanANO5203859anoctamin 5
img HP RolledUp, OMIM ID: 166260
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
HumanCCBE1147372collagen and calcium binding EGF domains 1
HumanPWAR1145624Prader Willi/Angelman region RNA 1
img HP RolledUp, OMIM ID: 176270
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
img HP RolledUp, OMIM ID: 241530
HumanRSS140821Russell Silver syndrome
HumanEVC2132884Ellis van Creveld syndrome 2
img HP RolledUp, OMIM ID: 225500
HumanCANT1124583calcium activated nucleotidase 1
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
img HP RolledUp, OMIM ID: 600081
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011843Abnormality of skeletal physiology0self