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About: syndromic microphthalmia 1     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

In OMIM, A form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1. Type 4 obsoleted by omim, merged into type 1[LS]

AttributesValues
type
subClassOf
label
  • syndromic microphthalmia 1
comment
  • In OMIM, A form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1. Type 4 obsoleted by omim, merged into type 1[LS]
has exact match
  • MESH:C537464
  • MESH:C564457
described by
id
  • DOID:0111799
has_alternative_id
  • DOID:0111810
has_broad_synonym
  • syndromic microphthalmia 4
database_cross_reference
  • GARD:5066
  • GARD:87
  • MESH:C564457
  • OMIM:309800
  • ORDO:568
  • ORDO:85275
  • UMLS_CUI:C1844948
has_exact_synonym
  • Lenz dysplasia
  • Lenz microphthalmia
  • Lenz type microphthalmia
  • MCOPS1
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in NAA10 on chromosome Xq28.
is topic of
is annotatedSource of
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