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Details
Link-It Detail - Disease - Osteopoikilosis
Debug Stats
  • ### Total Build Time: 137 ms 17.333 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 384 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 436 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=14 ms Completed: 14 ms rowSize= 994 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 2.799 KB
  • CONCEPT_RELATIONSHIPS gt=95 ms Completed: 95 ms rowSize= 9.276 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 2.061 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Osteopoikilosis C0029455
Osteopoikilosis (disorder)
Definition (1)
An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Osteosclerosis C0029464
img Connective Tissue Diseases C0009782
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059406img Osteosclerosis C0029464
img Skin and Connective Tissue Diseases C0175166img Connective Tissue Diseases C00097823img Connective Tissue Diseases C0009782
Relationships (18)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 2
diso_​to_​diso : 10
diso_​to_​phen : 2


Relationships:
none : 6
associated_​with : 2
classifies : 2
is_​normal_​tissue_​origin_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
location_​of : 2
mapped_​to : 2
permuted_​term_​of : 1
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO14img Complication Aspects C1171258
DISO_to_PHEN14img genetic aspects C0017399
DISO_to_PHEN12img genetic aspects C0017399
DISO_to_CHEM10img Membrane Associated Proteins C0025252
DISO_to_CHEM10img Nuclear Proteins C0028589
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Connective and Soft Tissue C1516798
DISO_to_ANATlocation_ofimg Epiphyses C0014570
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skeletal bone C0262950
DISO_to_ANATlocation_ofimg Structure of long bone C0222647
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOassociated_withimg Congenital Abnormalities C0000768
DISO_to_DISOmapped_toimg Dacryocystitis osteopoikilosis C1833698
DISO_to_DISOmapped_toimg Dermatofibrosis lenticularis disseminata C0265514
DISO_to_DISOpermuted_term_ofimg Osteopoikilosis C0029455
DISO_to_DISOused_forimg Osteosclerosis C0029464
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
DISO_to_DISOassociated_withimg Sclerosis C0036429
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanLEMD323592LEM domain containing 3
img GENERIF, Score=1000, Pubmed Id: 17622481, UMLKSK CUI: C0029455
img OMIM, Score=1000, UMLKSK CUI: C0029455
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0029455Osteopoikilosis0self