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Details
Link-It Detail - Disease - Acro-Osteolysis
Debug Stats
  • ### Total Build Time: 176 ms 27.588 KB
  • CONCEPT_NAME gt=16 ms Completed: 16 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 500 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=16 ms Completed: 16 ms rowSize= 992 bytes
  • CONCEPT_CHILDREN gt=12 ms Completed: 12 ms rowSize= 559 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=19 ms Completed: 19 ms rowSize= 2.773 KB
  • CONCEPT_RELATIONSHIPS gt=74 ms Completed: 74 ms rowSize= 13.242 KB
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 7.889 KB
  • CONCEPT_XREFS gt=16 ms Completed: 16 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Acro-Osteolysis C0917990
Definition (1)
A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Osteolysis C0029435
img Bone Diseases, Developmental C0005941
Children (1)
img Hajdu-Cheney Syndrome C0917715
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Osteolysis C0029435
img Musculoskeletal Diseases C0026857img Bone Diseases C00059404img Bone Diseases, Developmental C0005941
Relationships (27)

Relation Types:
diso_​to_​anat : 5
diso_​to_​diso : 20
diso_​to_​phen : 2


Relationships:
none : 13
is_​associated_​anatomic_​site_​of : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 4
location_​of : 1
mapped_​to : 5
permuted_​term_​of : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_DISO4img Complication Aspects C1171258
DISO_to_ANAT3img Fingers C0016129
DISO_to_DISO3img DIS OCCUP C0028797
DISO_to_ANAT2img Mandible C0024687
DISO_to_DISO2img Acquired Foot Deformities C0016507
DISO_to_DISO2img Acquired Hand Deformities C0018565
DISO_to_DISO2img Polyneuropathies C0152025
DISO_to_DISO2img Psoriasis C0033860
DISO_to_DISO2img Scleroderma, Systemic C0036421
DISO_to_DISO2img chemically induced C0007994
DISO_to_PHEN2img genetic aspects C0017399
DISO_to_ANATis_associated_anatomic_site_ofimg Connective and Soft Tissue C1516798
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skeletal bone C0262950
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_DISOpermuted_term_ofimg ACROOSTEOLYSIS C0917990
DISO_to_DISOmapped_toimg Acro-osteolysis-facial dysplasia syndrome C1848598
DISO_to_DISOmapped_toimg Acroosteolysis dominant type C2930971
DISO_to_DISOused_forimg BONE/JOINT DISORDERS C0263661
DISO_to_DISOisaimg Giacci familial neurogenic acroosteolysis C1300236
DISO_to_DISOmapped_toimg HAIM-MUNK SYNDROME C1855627
DISO_to_DISOisaimg Hajdu-Cheney Syndrome C0917715
DISO_to_DISOisaimg Idiopathic acroosteolysis C0263424
DISO_to_DISOmapped_toimg Mandibuloacral dysostosis C0432291
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanWNK165125WNK lysine deficient protein kinase 1
img OMIM, Score=1000, UMLKSK CUI: C0917990
HumanZMPSTE2410269zinc metallopeptidase STE24
img OMIM, Score=1000, UMLKSK CUI: C0917990
img OMIM, Score=833, UMLKSK CUI: C0917990
HumanMMP24313matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
INFERRED, Score=800, UMLKSK CUI: C0917990
HumanLMNA4000lamin A/C
img OMIM, Score=1000, UMLKSK CUI: C0917990
img OMIM, Score=833, UMLKSK CUI: C0917990
HumanFLNA2316filamin A, alpha
img OMIM, Score=1000, UMLKSK CUI: C0917990
HumanCTSK1513cathepsin K
img OMIM, Score=1000, UMLKSK CUI: C0917990
HumanCOL3A11281collagen, type III, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0917990
HumanCTSC1075cathepsin C
img OMIM, Score=1000, UMLKSK CUI: C0917990
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0917990Acro-Osteolysis0self