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About: Leri-Weill dyschondrosteosis     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
  • Leri-Weill dyschondrosteosis
described by
id
  • DOID:0060847
database_cross_reference
  • GARD:3224
  • MESH:C537119
  • NCI:C126560
  • OMIM:127300
  • ORDO:240
  • SNOMEDCT_US_2021_09_01:17818006
  • UMLS_CUI:C0265309
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.
is topic of
is annotatedSource of
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