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Details
Link-It Detail - Disease - Oculocerebrorenal Syndrome
Debug Stats
  • ### Total Build Time: 28 ms 32.695 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 513 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=2 ms Completed: 2 ms rowSize= 14.718 KB
  • CONCEPT_RELATIONSHIPS gt=18 ms Completed: 18 ms rowSize= 13.399 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Oculocerebrorenal Syndrome C0028860
Definition (1)
sex-linked recessive disorder of amino acid transport which affects the eye, nervous system, and kidney; manifestations include cataract, glaucoma, aminoaciduria, hypophosphatemic rickets, developmental delay, myopathy, peripheral neuropathy, and hypotonia; associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (5)
img Renal Tubular Transport, Inborn Errors C0035091
img Brain Diseases, Metabolic, Inborn C0752109
img Amino Acid Transport Disorders, Inborn C0751746
img Genetic Diseases, X-Linked C1138434
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Renal Tubular Transport, Inborn Errors C0035091
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img 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 Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Amino Acid Transport Disorders, Inborn C0751746
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 C09501234img Genetic Diseases, X-Linked C1138434
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (61)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 56
diso_​to_​phen : 3


Relationships:
none : 5
alias_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 52
mapped_​to : 1
use : 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 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
DISO_to_DISOmanifestation_ofimg Elevated total cholesterol C1839869
XRefs (1)

XRef Types:
cui : 1


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