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Details
Link-It Detail - Disease - Chondrodysplasia Punctata
Debug Stats
  • ### Total Build Time: 32 ms 26.186 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 339 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 558 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 575 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.507 KB
  • CONCEPT_RELATIONSHIPS gt=9 ms Completed: 9 ms rowSize= 9.309 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 12.223 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Chondrodysplasia Punctata C0008445
Definition (1)
A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Osteochondrodysplasias C0029422
Children (1)
img Chondrodysplasia Punctata, Rhizomelic C0282529
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Osteochondrodysplasias C0029422
Relationships (21)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 15
diso_​to_​phen : 2


Relationships:
none : 9
entry_​version_​of : 1
isa : 7
mapped_​to : 4
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN32img genetic aspects C0017399
DISO_to_PHEN29img genetic aspects C0017399
DISO_to_ANAT11img Chromosome, Human X C1136735
DISO_to_CHEM10img 3 Ketosteroid Isomerases C0038312
DISO_to_DISO9img Disease, X-Linked Genetic C1138434
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_CHEM7img 3 Ketosteroid Isomerases C0038312
DISO_to_CHEM7img Carrier Protein C0007292
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_DISOmapped_toimg Astley-Kendall dysplasia C1300228
DISO_to_DISOmapped_toimg CDPX1 C1844853
DISO_to_DISOisaimg CHONDRODYSPLASIA PUNCTATA, MT TYPE C0432224
DISO_to_DISOentry_version_ofimg Chondrodysplasia Punctata C0008445
DISO_to_DISOisaimg Chondrodysplasia Punctata, Rhizomelic C0282529
DISO_to_DISOmapped_toimg Chondrodysplasia punctata 2, X-linked dominant C2931843
DISO_to_DISOisaimg Chondrodysplasia punctata, X-linked dominant type C0282102
DISO_to_DISOisaimg Chondrodysplasia punctata, X-linked recessive type C0432223
DISO_to_DISOmapped_toimg EPIPHYSEAL STIPPLING WITH OSTEOCLASTIC HYPERPLASIA C1833676
DISO_to_DISOisaimg Hyperphosphatasia-osteoectasia syndrome C0265298
DISO_to_DISOisaimg Immunodeficiency with short-limbed stature C0265299
DISO_to_DISOisaimg X-linked dominant chondrodysplasia punctata of Happle C1275087
Genes (14)

Species:
human : 14
SpeciesGeneGeneIdGene NameEvidence
HumanSUMF1285362sulfatase modifying factor 1
img OMIM, Score=1000, UMLKSK CUI: C0008445
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C0008445
HumanAGPS8540alkylglycerone phosphate synthase
img OMIM, Score=1000, UMLKSK CUI: C0008445
HumanPEX38504peroxisomal biogenesis factor 3
img OMIM, Score=1000, UMLKSK CUI: C0008445
HumanTHRB7068thyroid hormone receptor, beta
img OMIM, Score=1000, UMLKSK CUI: C0008445
HumanPEX55830peroxisomal biogenesis factor 5
img OMIM, Score=1000, UMLKSK CUI: C0008445
HumanPEX195824peroxisomal biogenesis factor 19
img OMIM, Score=1000, UMLKSK CUI: C0008445
HumanPEX145195peroxisomal biogenesis factor 14
img OMIM, Score=1000, UMLKSK CUI: C0008445
HumanPEX135194peroxisomal biogenesis factor 13
img OMIM, Score=1000, UMLKSK CUI: C0008445
HumanPEX105192peroxisomal biogenesis factor 10
img OMIM, Score=1000, UMLKSK CUI: C0008445
HumanPEX75191peroxisomal biogenesis factor 7
INFERRED, Score=800, UMLKSK CUI: C0008445
HumanPEX15189peroxisomal biogenesis factor 1
img OMIM, Score=1000, UMLKSK CUI: C0008445
HumanGGCX2677gamma-glutamyl carboxylase
img OMIM, Score=1000, UMLKSK CUI: C0008445
HumanDHCR717177-dehydrocholesterol reductase
img OMIM, Score=1000, UMLKSK CUI: C0008445
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0008445Chondrodysplasia Punctata0self