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About: D-bifunctional protein deficiency     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
  • D-bifunctional protein deficiency
described by
id
  • DOID:0090031
database_cross_reference
  • GARD:4539
  • ICD10CM:E71.3
  • OMIM:261515
  • ORDO:300
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.
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is annotatedSource of
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