OBO ID: DOID:0112265
Term Name: iminoglycinuria Search Ontology:
Synonyms:
Definition: A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. https://pubmed.ncbi.nlm.nih.gov/19033659/
References:
Ontology: Human Disease   ( DOID:0112265 )
Relationships
is a type of:
OTHER iminoglycinuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC36A1 [Iminoglycinuria] 242600
SLC36A2 [Iminoglycinuria] 242600
SLC36A3 [Iminoglycinuria] 242600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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