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Details
Link-It Detail - Disease - Chondrodysplasia Punctata, Rhizomelic
Debug Stats
  • ### Total Build Time: 30 ms 16.759 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 372 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 586 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= 1,000 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 8.013 KB
  • CONCEPT_RELATIONSHIPS gt=2 ms Completed: 2 ms rowSize= 3.845 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 1.600 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.171 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Chondrodysplasia Punctata, Rhizomelic C0282529
Definition (1)
An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Peroxisomal Disorders C0282528
img Chondrodysplasia Punctata C0008445
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Peroxisomal Disorders C0282528
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Peroxisomal Disorders C0282528
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Peroxisomal Disorders C0282528
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Peroxisomal Disorders C0282528
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Peroxisomal Disorders C0282528
img Musculoskeletal Diseases C0026857img Bone Diseases C00059406img Chondrodysplasia Punctata C0008445
Relationships (7)

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


Relationships:
none : 3
mapped_​to : 3
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_DISO4img Complication Aspects C1171258
DISO_to_DISOmapped_toimg AGPS DEFICIENCY C1838612
DISO_to_DISOmapped_toimg CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY C1857242
DISO_to_DISOpermuted_term_ofimg Chondrodysplasia Punctata, Rhizomelic C0282529
DISO_to_DISOmapped_toimg RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 C1859133
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPEX75191peroxisomal biogenesis factor 7
img GENERIF, Score=756, Pubmed Id: 12325024, UMLKSK CUI: C0282529
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0282529Chondrodysplasia Punctata, Rhizomelic0self