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About: iminoglycinuria     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • iminoglycinuria
described by
id
  • DOID:0112265
database_cross_reference
  • GARD:8424
  • MESH:C536285
  • OMIM:242600
  • ORDO:42062
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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