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Details
Link-It Detail - Disease - Oculocerebrorenal Syndrome
Debug Stats
  • ### Total Build Time: 278 ms 32.770 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=1 ms Completed: 1 ms rowSize= 753 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 14.718 KB
  • CONCEPT_RELATIONSHIPS gt=235 ms Completed: 235 ms rowSize= 13.239 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Oculocerebrorenal Syndrome C0028860
Definition (1)
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (5)
img Genetic Diseases, X-Linked C1138434
img Abnormalities, Multiple C0000772
img Renal Tubular Transport, Inborn Errors C0035091
img Brain Diseases, Metabolic, Inborn C0752109
img Amino Acid Transport Disorders, Inborn C0751746
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Renal Tubular Transport, Inborn Errors C0035091
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Renal Tubular Transport, Inborn Errors C0035091
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Renal Tubular Transport, Inborn Errors C0035091
img Male Urogenital Diseases C1720894img Urologic Diseases C00420755img Renal Tubular Transport, Inborn Errors C0035091
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Amino Acid Transport Disorders, Inborn C0751746
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Amino Acid Transport Disorders, Inborn C0751746
Relationships (62)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 57
diso_​to_​phen : 3


Relationships:
none : 5
alias_​of : 2
inheritance_​type_​of : 1
manifestation_​of : 53
mapped_​to : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN32img genetic aspects C0017399
DISO_to_CHEM25img Phosphoric Monoester Hydrolases C0031678
DISO_to_PHEN12img genetic aspects C0017399
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_CHEM9img Phosphoric Monoester Hydrolases C0031678
DISO_to_DISOmanifestation_ofimg Abnormal serum protein electrophoresis (elevated alpha-2 band) C1839868
DISO_to_DISOmanifestation_ofimg Absent reflex C0234146
DISO_to_DISOmanifestation_ofimg Acidosis, Renal Tubular, Type II C0268435
DISO_to_DISOmanifestation_ofimg Ageneses, Enamel C0011351
DISO_to_DISOmanifestation_ofimg Aminoaciduria C0238621
DISO_to_DISOmanifestation_ofimg Bicarbonaturia C1839865
DISO_to_DISOmanifestation_ofimg Caused by mutations in the OCRL1 gene (OCRL1, 300535.0001) C1839872
DISO_to_DISOmanifestation_ofimg Cerebral ventriculomegaly C1531647
DISO_to_DISOmanifestation_ofimg Congenital cataract (males) C1839861
DISO_to_DISOmanifestation_ofimg Constipation C0009806
DISO_to_DISOmanifestation_ofimg Corneal keloid C1642403
DISO_to_DISOmanifestation_ofimg Cryptorchidism C0010417
DISO_to_DISOmanifestation_ofimg Decreased visual acuity C0234632
DISO_to_DISOmanifestation_ofimg Deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (PtdIns(4,5)P(2) 5-phosphatase) in cultured fibroblasts C2748938
DISO_to_DISOmanifestation_ofimg Dense, posterior cortical cataract (carrier females) C1839863
DISO_to_DISOmanifestation_ofimg Dental Enamel Hypoplasia C0011351
DISO_to_DISOmanifestation_ofimg Dental cyst C1313977
DISO_to_DISOmanifestation_ofimg Elevated amniotic fluid alpha-fetoprotein C1839860
DISO_to_DISOmanifestation_ofimg Elevated serum acid phosphatase C1839866
DISO_to_DISOmanifestation_ofimg Elevated serum protein C1839867
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0028860Oculocerebrorenal Syndrome0self