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About: syndromic microphthalmia 14     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
  • syndromic microphthalmia 14
described by
id
  • DOID:0111802
database_cross_reference
  • OMIM:615877
  • ORDO:424099
has_exact_synonym
  • colobomatous microphthalmia-rhizomelic dysplasia syndrome
  • microphthalmia/coloboma and skeletal dysplasia syndrome
  • MCOPS14
  • MCSKS
  • microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in MAB21L2 on chromosome 4q31.3.
is topic of
is annotatedSource of
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