About: Oculocerebrorenal Syndrome     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • Oculocerebrorenal Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
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
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