OBO ID: DOID:1056
Term Name: oculocerebrorenal syndrome Search Ontology:
Synonyms:
  • lowe oculocerebrorenal syndrome
  • Lowe syndrome
  • oculocerebrorenal syndrome of Lowe
Definition: A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. (2)
References:
  • GARD:3295
  • ICD10CM:E72.03
  • MEDDRA:10051707
  • MESH:D009800
  • NCI:C84940
  • OMIM:309000
  • ORDO:534
  • SNOMEDCT_US_2023_03_01:79385002
  • UMLS_CUI:C0028860
Ontology: Human Disease   ( DOID:1056 )
OTHER oculocerebrorenal syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OCRL Lowe syndrome 309000
PHENOTYPE No data available

CITATIONS (9)