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Details
Link-It Detail - Human Phenotype - Abnormality of long bone morphology
Debug Stats
  • ### Total Build Time: 43 ms 26.317 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 210 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 217 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=0 Completed: 0 ms rowSize= 455 bytes
  • CONCEPT_CHILDREN gt=14 ms Completed: 14 ms rowSize= 4.924 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=26 ms Completed: 26 ms rowSize= 18.188 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.029 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of long bone morphology HP:0011314
Definition (1)
An abnormality of size or shape of the `long bones` (FMA:7474).
Parents (1)
img Abnormality of skeletal morphology HP:0011842
Children (15)
img Abnormal diaphysis morphology HP:0000940
img Abnormality of the metaphyses HP:0000944
img Fractures of the long bones HP:0003084
img Abnormality of the epiphyses HP:0005930
img Thickened cortex of long bones HP:0000935
img Short long bones HP:0003026
img Slender long bone HP:0003100
img Phocomelia HP:0009829
img Periosteal thickening of long tubular bones HP:0006465
img Broad long bones HP:0005622
img Protuberances at ends of long bones HP:0003105
img Overtubulated long bones HP:0006391
img Pseudoarthrosis HP:0005864
img Crumpled long bones HP:0006367
img Increased density of long bones HP:0006392
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of skeletal morphology HP:0011842
Genes (318)

Species:
human : 318
Page Size
Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanDUP17Q23.1Q23.2100526743
HumanDEL8Q13100526741Mesomelia-synostoses syndrome
HumanAMMEC100499260Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
img HP RolledUp, OMIM ID: 300194
HumanRCHTS100462676Roifman-Chitayat syndrome
HumanDEL17Q23.1Q23.2100415941
img HP RolledUp, OMIM ID: 613355
HumanLKMCD100302058Leukoencephalopathy with metaphyseal chondrodysplasia
HumanDEL6PTER100270803Chromosome 6pter deletion syndrome
img HP RolledUp, OMIM ID: 612582
HumanC22DDELS100188856Chromosome 22q11.2 deletion syndrome, distal
img HP RolledUp, OMIM ID: 611867
HumanHBD100187828hypophosphatemic bone disease
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
HumanSHFL1791121Split-hand/foot malformation with long bone deficiency 1
HumanACRPV414058Acropectorovertebral dysplasia (F syndrome)
HumanLRSL406214Larsen-like syndrome
img HP RolledUp, OMIM ID: 608545
HumanLCRB387281locus control region, beta
HumanSH3PXD2B285590SH3 and PX domains 2B
img HP RolledUp, OMIM ID: 249420
HumanDOK7285489docking protein 7
img HP RolledUp, OMIM ID: 208150
HumanSUMF1285362sulfatase modifying factor 1
HumanMMEDF260403Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
img HP RolledUp, OMIM ID: 607131
HumanBDA1B246260Brachydactyly, type A1, locus B
HumanHYLS1219844hydrolethalus syndrome 1
HumanANO5203859anoctamin 5
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP RolledUp, OMIM ID: 268300
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011314Abnormality of long bone morphology0self