oculocerebrorenal syndrome

Summary
Synonym
  • Lowe syndrome
  • lowe oculocerebrorenal 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.
Super Class
X-linked recessive disease syndrome
External Links
Disease Ontology
DOID:1056
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 12 of 12 in total
Gene ID Gene Symbol Description Source
56623 INPP5E inositol polyphosphate-5-phosphatase E
347527 ARSH arylsulfatase family member H
The Human Phenotype Ontology
Displaying entries 101 - 110 of 148 in total
HPO ID HPO Term
HP:0007513 Generalized hypopigmentation
HP:0007731 Chorioretinal dysplasia
HP:0007957 Corneal opacity
HP:0008069 Neoplasm of the skin
HP:0008872 Feeding difficulties in infancy
HP:0009804 Tooth agenesis
HP:0010471 Oligosacchariduria
HP:0010807 Open bite
HP:0011527 Lentiglobus
HP:0100493 Hypoammonemia
Displaying 1 entry
Gene ID Gene Symbol Description
4952 OCRL OCRL inositol polyphosphate-5-phosphatase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024