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About: occipital horn 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
  • occipital horn syndrome
described by
id
  • DOID:0111272
database_cross_reference
  • GARD:4017
  • MESH:C537860
  • OMIM:304150
  • ORDO:198
  • SNOMEDCT_US_2021_09_01:59399004
  • UMLS_CUI:C0268353
has_exact_synonym
  • EDS IX (en)
  • Ehlers-Danlos syndrome type 9 (en)
  • Ehlers-Danlos syndrome type IX (en)
  • X-linked cutis laxa (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease.
is topic of
is annotatedSource of
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