FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term oculocerebrorenal syndrome ID (Ontology) DOID:1056 (Human Disease)
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.
Also Known As "lowe oculocerebrorenal syndrome" ; "Lowe syndrome" ; "oculocerebrorenal syndrome of Lowe"
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 oculocerebrorenal syndrome       1      1
 for disease ribbon | oculocerebrorenal syndrome       1       --
 model of | oculocerebrorenal syndrome       1       --
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
disease                         |
 |__syndrome____________________|
                                oculocerebrorenal syndrome  2 rec.
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Is a X-linked recessive disease
syndrome
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Synonyms
  • "lowe oculocerebrorenal syndrome" EXACT
    "Lowe syndrome" EXACT
    "oculocerebrorenal syndrome of Lowe" EXACT
Secondary IDs
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GARD:3295
ICD10CM:E72.03
MEDDRA:10051707
MESH:D009800
MIM:309000
NCI:C84940
ORDO:534
SNOMEDCT_US_2023_03_01:79385002
UMLS_CUI:C0028860