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About: acromesomelic dysplasia, Grebe type     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
  • acromesomelic dysplasia, Grebe type
described by
id
  • DOID:0080052
database_cross_reference
  • OMIM:200700
  • ORDO:2098
has_exact_synonym
  • grebe chondrodysplasia (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.
is topic of
is annotatedSource of
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