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About: hypotonia-cystinuria syndrome     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
  • hypotonia-cystinuria syndrome (en)
described by
id
  • DOID:0060858
database_cross_reference
  • ICD10CM:E72.0
  • OMIM:606407
  • ORDO:163690
has_exact_synonym
  • cystinuria with mitochondrial disease (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
is topic of
is annotatedSource of
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