phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase deficiency

Preferred Label : phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase deficiency;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0536558;

UMLS CUI

C2713392;

Automatic exact mappings (from CISMeF team)
- Lowe oculocerebrorenal syndrome [OMIM Phenotype]
- Lowe syndrome (disorder) [SNOMED CT concept]
- Oculocerebrorenal syndrome [ICD-11 Subcategory]
- Oculocerebrorenal syndrome of Lowe [ORDO Disease]
Related record
- oculocerebrorenal syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]