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Details
Link-It Detail - Human Phenotype - Abnormality of skeletal morphology
Debug Stats
  • ### Total Build Time: 69 ms 25.575 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 209 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 238 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=4 ms Completed: 4 ms rowSize= 4.635 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.170 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=63 ms Completed: 63 ms rowSize= 17.717 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 morphology HP:0011842
Definition (1)
An abnormality of the form, structure, or size of the `skeletal system` (FMA:23881).
Parents (1)
img Abnormality of the skeletal system HP:0000924
Children (14)
img Skeletal dysplasia HP:0002652
img Abnormal enchondral ossification HP:0003336
img Abnormal appendicular skeleton morphology HP:0011844
img Abnormal cartilage morphology HP:0002763
img Abnormal bone structure HP:0003330
img Dysostosis multiplex HP:0000943
img Abnormal joint morphology HP:0001367
img Abnormality of long bone morphology HP:0011314
img Neoplasm of the skeletal system HP:0010622
img Aplasia/Hypoplasia involving the skeleton HP:0009115
img Bone cysts HP:0100696
img Abnormal tendon morphology HP:0100261
img Abnormal axial skeleton morphology HP:0009121
img Hyperostosis HP:0100774
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the skeletal system HP:0000924
Genes (1692)

Species:
human : 1692
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanOPHLC101290499Omphalocele due to duplication of 1p31.3
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
HumanDUP16P11.2100909384
HumanOTDD100885788Otodental dysplasia chromsome deletion syndrome
HumanNMLFS100885786Nablus mask-like facial syndrome
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
HumanDUPXQ27.3Q28100874533
HumanC16DELQ22100874527Chromosome 16q22 deletion syndrome
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
HumanCCCSX100820758Cerebral-cerebellar-coloboma syndrome, X-linked
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
HumanTET18P100750329Tetrasomy 18p
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011842Abnormality of skeletal morphology0self