About: Oculocerebrorenal Syndrome

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Oculocerebrorenal Syndrome
rdfs:subClassOf	Syndrome Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Genetic Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Oculocerebrorenal Syndrome
UMLS_CUI	C0028860
Contributing_Source	NICHD
FULL_SYN	Lowe SyndromePTNICHD Oculocerebrorenal SyndromePTNCI
DEFINITION	An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction.NCI
code	C84940
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0015215
is sameAs of	Oculocerebrorenal Syndrome

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