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Details
Link-It Detail - Human Phenotype - Abnormality of skeletal maturation
Debug Stats
  • ### Total Build Time: 35 ms 28.598 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 209 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 792 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.082 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.105 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 23.260 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.028 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of skeletal maturation HP:0000927
Parents (2)
img Abnormality of the skeletal system HP:0000924
img Abnormality of skeletal physiology HP:0011843
Children (3)
img Dysharmonic bone age HP:0200000
img Delayed skeletal maturation HP:0002750
img Accelerated skeletal maturation HP:0005616
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:00001185img Abnormality of skeletal physiology HP:0011843
Genes (180)

Species:
human : 180
Page Size
Current 25
  Page 1 of 8
Prior Page
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
img HP RolledUp, OMIM ID: 607872
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanSNORD116-1100033413
img HP RolledUp, OMIM ID: 176270
HumanPWRN1791114Prader-Willi region non-protein coding RNA 1
img HP RolledUp, OMIM ID: 176270
HumanWTRS619509Wittwer syndrome
img HP RolledUp, OMIM ID: 300421
HumanLRSL406214Larsen-like syndrome
img HP RolledUp, OMIM ID: 608545
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img HP RolledUp, OMIM ID: 601675
HumanSNORD115-1338433
img HP RolledUp, OMIM ID: 176270
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP RolledUp, OMIM ID: 180860
img HP RolledUp, OMIM ID: 130650
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP RolledUp, OMIM ID: 243800
HumanCCBE1147372collagen and calcium binding EGF domains 1
img HP RolledUp, OMIM ID: 235510
HumanPWAR1145624Prader Willi/Angelman region RNA 1
img HP RolledUp, OMIM ID: 176270
HumanRSS140821Russell Silver syndrome
img HP RolledUp, OMIM ID: 180860
HumanEVC2132884Ellis van Creveld syndrome 2
img HP RolledUp, OMIM ID: 225500
HumanCANT1124583calcium activated nucleotidase 1
img HP RolledUp, OMIM ID: 251450
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanSCARF291179scavenger receptor class F, member 2
img HP RolledUp, OMIM ID: 600920
HumanLHX489884LIM homeobox 4
img HP RolledUp, OMIM ID: 262700
HumanSHANK385358SH3 and multiple ankyrin repeat domains 3
img HP RolledUp, OMIM ID: 606232
HumanCGNL184952cingulin-like 1
img HP RolledUp, OMIM ID: 139300
HumanCOX4I284701cytochrome c oxidase subunit IV isoform 2 (lung)
img HP RolledUp, OMIM ID: 612714
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000927Abnormality of skeletal maturation0self