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About: syndromic microphthalmia 2     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 2
described by
id
  • DOID:0111809
database_cross_reference
  • GARD:4628
  • MESH:C537465
  • OMIM:300166
  • ORDO:2712
  • SNOMEDCT_US_2021_09_01:699300009
  • UMLS_CUI:C1846265
has_exact_synonym
  • ANOP2
  • MAA2
  • MCOPS2
  • OFCD syndrome
  • oculofaciocardiodental syndrome
  • syndromic microphthalmia type 2
  • cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
  • microphthalmia cataracts radiculomegaly and septal heart defects
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in BCOR on chromosome Xp11.4.
is topic of
is annotatedSource of
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