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Details
Link-It Detail - Human Phenotype - Abnormality of limb bone morphology
Debug Stats
  • ### Total Build Time: 79 ms 38.991 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 210 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 199 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= 799 bytes
  • CONCEPT_CHILDREN gt=8 ms Completed: 8 ms rowSize= 11.062 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.112 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=64 ms Completed: 64 ms rowSize= 23.463 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.029 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of limb bone morphology HP:0002813
Definition (1)
Any abnormality of bones of the arms or legs.
Parents (2)
img Abnormality of the skeletal system HP:0000924
img Abnormal appendicular skeleton morphology HP:0011844
Children (34)
img Brachydactyly syndrome HP:0001156
img Abnormality of the metaphyses HP:0000944
img Trophic limb changes HP:0003091
img Abnormality of the digits HP:0011297
img Hemihypertrophy HP:0001528
img Dumbbell-shaped long bone HP:0000947
img Slender long bone HP:0003100
img Abnormality of the musculature of the limbs HP:0009127
img Limb duplication HP:0100524
img Ectrodactyly HP:0100257
img Periosteal thickening of long tubular bones HP:0006465
img Abnormality involving the metaphyses of the limbs HP:0006506
img Cystic angiomatosis of bone HP:0002833
img Bowing of the long bones HP:0006487
img Clubbing HP:0001217
img Large hands and feet HP:0002820
img Abnormality involving the epiphyses of the limbs HP:0006505
img Syndactyly HP:0001159
img Autoamputation HP:0001218
img Abnormality of the lower limb HP:0002814
img Increased carrying angle HP:0003102
img Cortically dense long tubular bones HP:0006415
img Asymmetric limb hypertrophy HP:0006416
img Aplasia/Hypoplasia of the extremities HP:0009815
img Protuberances at ends of long bones HP:0003105
img Overtubulated long bones HP:0006391
img Crumpled long bones HP:0006367
img Limb hypertonia HP:0002509
img Abnormality of the upper limb HP:0002817
img Gracile long bones HP:0003061
img Subperiosteal erosions due to secondary hyperparathyroidism HP:0003106
img Macrodactyly HP:0004099
img Abnormality involving the diaphyses of the limbs HP:0006504
img Polydactyly HP:0010442
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 Abnormal appendicular skeleton morphology HP:0011844
Genes (1075)

Species:
human : 1075
Page Size
Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanSMAJ101241900Spinal muscular atrophy, Jokela type
img HP RolledUp, OMIM ID: 615048
HumanPAPA5101241897Polydactyly, postaxial, type A5
img HP RolledUp, OMIM ID: 263450
HumanSPG43101234260spastic paraplegia 43 (autosomal recessive)
img HP RolledUp, OMIM ID: 615043
HumanECTD7101101771Ectodermal dysplasia 7, hair/nail type
img HP RolledUp, OMIM ID: 614929
HumanECTD5101101769Ectodermal dysplasia 5, hair/nail type
img HP RolledUp, OMIM ID: 614927
HumanECTD8101101768Ectodermal dysplasia 8, hair/tooth/nail type
img HP RolledUp, OMIM ID: 602401
HumanHMSN5101059903Hereditary motor and sensory neuropathy V
img HP RolledUp, OMIM ID: 600361
HumanPDA1100996949Patent ductus arteriosus, susceptibility to
img HP RolledUp, OMIM ID: 607411
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP RolledUp, OMIM ID: 614526
HumanDUPXQ27.3Q28100874533
img HP RolledUp, OMIM ID: 300869
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
HumanDEL17Q11.2100852404
img HP RolledUp, OMIM ID: 613675
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
img HP RolledUp, OMIM ID: 252270
HumanTET18P100750329Tetrasomy 18p
img HP RolledUp, OMIM ID: 614290
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanNDNC9100682325Nail disorder, nonsyndromic congenital, 9
img HP RolledUp, OMIM ID: 614149
HumanDEL3PTERP251006533853p- syndrome
img HP RolledUp, OMIM ID: 613792
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
img HP RolledUp, OMIM ID: 613884
HumanMYMY4100653379Moyamoya disease 4
img HP RolledUp, OMIM ID: 300845
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002813Abnormality of limb bone morphology0self