oculocerebrorenal syndrome

Term ID

DOID:1056

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
• MIM:309000
• NCI:C84940
• ORDO:534
• SNOMEDCT_US_2023_03_01:79385002
• UMLS_CUI:C0028860

Ontology

Human Disease   ( DOID:1056 )