Oculocerebrorenal Syndrome

Preferred Label : Oculocerebrorenal Syndrome;

NCIt related terms : Lowe Syndrome;

NCIt 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.;

Alternative definition : NICHD: An X-linked, multisystem, metabolic disorder caused by mutations in the OCRL1 gene, the primary manifestations of which result from involvement of the eyes, nervous system and kidneys, and include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria, and renal tubular dysfunction.;

Details

Origin ID

C84940;

UMLS CUI

C0028860;

Automatic exact mappings (from CISMeF team)
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Lowe oculocerebrorenal syndrome [OMIM Phenotype]
- Lowe syndrome [PASCAL descriptor]
- Lowe syndrome [Disease (Nov.)]
- Lowe syndrome (disorder) [SNOMED CT concept]
- Lowe's syndrome [MedDRA LLT]
- Oculocerebrorenal syndrome [ICD-11 Subcategory]
- Oculocerebrorenal syndrome [MedDRA Preferred Term]
- Oculocerebrorenal syndrome of Lowe [ORDO Disease]
- Renal ocular syndrome (disorder) [SNOMED CT concept]
- lowe syndrome [SNOMED Notion]
- oculocerebrorenal syndrome [DO Concept]
- oculocerebrorenal syndrome [MeSH Descriptor]
- oculocerebrorenal syndrome [MeSH concept]
DO Cross reference
- oculocerebrorenal syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lowe oculocerebrorenal syndrome [OMIM Phenotype]
- Lowe syndrome [PASCAL descriptor]
- Lowe syndrome [Disease (Nov.)]
- Lowe syndrome (disorder) [SNOMED CT concept]
- Lowe's syndrome [MedDRA LLT]
- Oculocerebrorenal syndrome [MedDRA Preferred Term]
- Oculocerebrorenal syndrome [ICD-11 Subcategory]
- Oculocerebrorenal syndrome of Lowe [ORDO Disease]
- lowe syndrome [SNOMED Notion]
- oculocerebrorenal syndrome [DO Concept]
- oculocerebrorenal syndrome [MeSH Descriptor]
- oculocerebrorenal syndrome [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- OCRL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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