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Details
Link-It Detail - Disease - Pycnodysostosis
Debug Stats
  • ### Total Build Time: 136 ms 16.827 KB
  • CONCEPT_NAME gt=5 ms Completed: 4 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 514 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= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=116 ms Completed: 116 ms rowSize= 12.524 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 2.261 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pycnodysostosis C0238402
Definition (1)
Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.
Relationships (35)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 33
diso_​to_​phen : 1


Relationships:
none : 2
manifestation_​of : 32
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO4img Complication Aspects C1171258
DISO_to_PHEN4img genetic aspects C0017399
DISO_to_ANATmanifestation_ofimg Structure of wormian bone C0222716
DISO_to_DISOmanifestation_ofimg Absent frontal sinus C1873506
DISO_to_DISOmanifestation_ofimg Acro-osteolysis of distal phalanges C1849547
DISO_to_DISOmanifestation_ofimg Adult height less than 150 cm C1849535
DISO_to_DISOmanifestation_ofimg Aplasia of clavicle C1849534
DISO_to_DISOmanifestation_ofimg BRACHYDACTYLY C0221357
DISO_to_DISOmanifestation_ofimg Bossed forehead C0221354
DISO_to_DISOmanifestation_ofimg CLAVICULAR HYPOPLASIA C0426799
DISO_to_DISOmanifestation_ofimg Caused by mutations in the cathepsin K gene (CTSK, 601105.0001) C1849550
DISO_to_DISOmanifestation_ofimg Congenital micrognathia C0025990
DISO_to_DISOmanifestation_ofimg Delayed eruption of deciduous teeth C1849538
DISO_to_DISOmanifestation_ofimg Delayed eruption of permanent teeth C1849540
DISO_to_DISOmanifestation_ofimg Delayed suture closure C1849543
DISO_to_DISOmanifestation_ofimg Dense skull C1849542
DISO_to_DISOmanifestation_ofimg Dental Caries C0011334
DISO_to_DISOmanifestation_ofimg Flattened nails C1849549
DISO_to_DISOmanifestation_ofimg Frontal and occipital prominence C1849536
DISO_to_DISOmanifestation_ofimg Grooved nails C0423818
DISO_to_DISOmanifestation_ofimg Hypodontia C0020608
DISO_to_DISOmanifestation_ofimg Narrow ilia C1849546
DISO_to_DISOmanifestation_ofimg Narrow palate C1398312
DISO_to_DISOmanifestation_ofimg Obtuse angle to mandible C1849545
DISO_to_DISOmanifestation_ofimg Osteosclerosis C0029464
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCTSK1513cathepsin K
img GENERIF, Score=827, Pubmed Id: 12125807, UMLKSK CUI: C0238402
img GENERIF, Score=1000, Pubmed Id: 17397052, UMLKSK CUI: C0238402
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0238402Pycnodysostosis0self