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DO Term : syndromic microphthalmia 2 [DOID:0111809] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4.
  • synonyms:
  • oculofaciocardiodental syndrome,
  • ORDO:2712,
  • GARD:4628,
  • OFCD syndrome,
  • UMLS_CUI:C1846265,
  • 300166,
  • microphthalmia cataracts radiculomegaly and septal heart defects,
  • ANOP2,
  • MAA2,
  • SNOMEDCT_US_2023_03_01:699300009,
  • OMIM:300166,
  • cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome,
  • syndromic microphthalmia type 2,
  • MESH:C537465,
  • MCOPS2
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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