FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term syndromic microphthalmia 6 ID (Ontology) DOID:0111805 (Human Disease)
Definition 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.
Also Known As "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia" ; "Bakrania-Ragge syndrome" ; "MCOPS6" (for all, see Synonyms field below)
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 Genes
 syndromic microphthalmia 6       1
 for disease ribbon | syndromic microphthalmia 6       1
 model of | syndromic microphthalmia 6       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
microphthalmia                  |
 |__syndromic microphthalmia____|
                                syndromic microphthalmia 6  1 rec.
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Is a autosomal dominant disease
syndromic microphthalmia
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Synonyms
  • "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia" EXACT
    "Bakrania-Ragge syndrome" EXACT
    "MCOPS6" EXACT OMO:0003012
    "microphthalmia and pituitary anomalies" EXACT
    "microphthalmia with brain and digit anomalies" EXACT
    "syndromic microphthalmia type 6" EXACT
Secondary IDs
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GARD:3645
MESH:C566440
MIM:607932
ORDO:139471
SNOMEDCT_US_2023_03_01:721878003
UMLS_CUI:C1864689