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DO Term : syndromic microphthalmia 6 [DOID:0111805] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2.
  • synonyms:
  • microphthalmia with brain and digit anomalies,
  • SNOMEDCT_US_2023_03_01:721878003,
  • syndromic microphthalmia type 6,
  • anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia,
  • GARD:3645,
  • 607932,
  • OMIM:607932,
  • UMLS_CUI:C1864689,
  • Bakrania-Ragge syndrome,
  • ORDO:139471,
  • microphthalmia and pituitary anomalies,
  • MCOPS6,
  • MESH:C566440
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