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http://www.w3.org/2002/07/owl#
ldp
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About:
Oculocerebrorenal Syndrome
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An Entity of Type :
about:dsyn#this
, within Data Space :
semmed.demo.openlinksw.com
associated with source
document(s)
Type:
dsyn
New Facet based on Instances of this Class
Attributes
Values
label
oculocerebrorenal syndrome
COEXISTS_WITH
Liver diseases
Renal tubular disorder
alpha 1-Antitrypsin Deficiency
Kidney Calculi
ASSOCIATED_WITH
glycosaminoglycan metabolism
schema:identifier
c0028860
ISA
Disease
Kidney Diseases
Hereditary Diseases
Mental Retardation
Congenital Disorders
Multisystem disorder
PROCESS_OF
C0030705
Family
Human
Child
Mus
Infant
Girls
Brothers
Boys
AFFECTS
Family
is
LOCATION_OF
of
Kidney Tubules, Proximal
is
COEXISTS_WITH
of
Disease
Kidney Diseases
Kidney Failure, Chronic
Mental Retardation
Lesion
Congenital Abnormality
Impaired cognition
Abnormal renal function
Neurologic Deficits
Congenital cataract
Carrier of disorder
Keloid
Arthritis
Renal tubular acidosis
Renal tubular disorder
Cataract
Tenosynovitis
Bone Diseases, Metabolic
Tooth finding
is
ASSOCIATED_WITH
of
Glycosaminoglycans
Dermatan Sulfate
Chondroitin Sulfates
Phosphoric Monoester Hydrolases
inositol-1,4,5-trisphosphate 5-phosphatase
OCRL
INPP5B
OCRL gene|OCRL
OCRL protein, human|OCRL
is
CAUSES
of
Mutation
OCRL
OCRL gene|OCRL
is
TREATS
of
Injection procedure
Assessment procedure
Surgical Replantation
is
NEG_CAUSES
of
OCRL
is
MANIFESTATION_OF
of
Disease
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