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

OMIM mapping submitted by NeuroDevNet. [LS].

AttributesValues
type
subClassOf
label
  • glycoproteinosis
comment
  • OMIM mapping submitted by NeuroDevNet. [LS].
described by
id
  • DOID:3343
database_cross_reference
  • GARD:10670
  • MESH:D009081
  • NCI:C61267
  • OMIM:256550
  • SNOMEDCT_US_2021_09_01:70528007
  • UMLS_CUI:C0026697
has_exact_synonym
  • Mucolipidosis type I (en)
  • sialidosis (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
is topic of
is annotatedSource of
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