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Metadata
ID DOID:1056
Name oculocerebrorenal syndrome
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.
https://ghr.nlm.nih.gov/condition/lowe-syndrome, https://www.omim.org/entry/309000
Xrefs

GARD:3295

ICD10CM:E72.03

MEDDRA:10051707

MESH:D009800

NCI:C84940

OMIM:309000

ORDO:534

SNOMEDCT_US_2020_03_01:79385002

UMLS_CUI:C0028860

Subsets

NCIthesaurus

Synonyms

lowe oculocerebrorenal syndrome [EXACT]

Lowe syndrome [EXACT]

oculocerebrorenal syndrome of Lowe [EXACT]

Parent Relationships

is_a syndrome

is_a X-linked recessive disease

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