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Details
Link-It Detail - Human Phenotype - Abnormal appendicular skeleton morphology
Debug Stats
  • ### Total Build Time: 137 ms 20.809 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 216 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=0 Completed: 0 ms rowSize= 455 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 1.109 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 1.170 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=135 ms Completed: 135 ms rowSize= 16.694 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.035 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal appendicular skeleton morphology HP:0011844
Parents (1)
img Abnormality of skeletal morphology HP:0011842
Children (3)
img Abnormality of limb bone morphology HP:0002813
img Abnormality of pelvic girdle bone morphology HP:0002644
img Abnormality of the shoulder HP:0003043
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of skeletal morphology HP:0011842
Genes (1084)

Species:
human : 1084
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSMAJ101241900Spinal muscular atrophy, Jokela type
img HP RolledUp, OMIM ID: 615048
HumanPAPA5101241897Polydactyly, postaxial, type A5
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
HumanHMSN5101059903Hereditary motor and sensory neuropathy V
HumanPDA1100996949Patent ductus arteriosus, susceptibility to
HumanNMLFS100885786Nablus mask-like facial syndrome
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
HumanDUPXQ27.3Q28100874533
HumanCATMANS100862706Catel-Manzke syndrome
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
HumanDEL17Q11.2100852404
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
HumanTET18P100750329Tetrasomy 18p
HumanDEL8Q21.11100689491
HumanNDNC9100682325Nail disorder, nonsyndromic congenital, 9
img HP RolledUp, OMIM ID: 614149
HumanDEL3PTERP251006533853p- syndrome
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
HumanMYMY4100653379Moyamoya disease 4
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011844Abnormal appendicular skeleton morphology0self