OBO ID: DOID:0111805
Term Name: syndromic microphthalmia 6 Search Ontology:
Synonyms:
  • anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia
  • Bakrania-Ragge syndrome
  • MCOPS6
  • microphthalmia and pituitary anomalies
  • microphthalmia with brain and digit anomalies
  • syndromic microphthalmia type 6
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 BMP4 on chromosome 14q22.2. (2)
References:
Ontology: Human Disease   (DOID:0111805)
OTHER syndromic microphthalmia 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BMP4 Microphthalmia, syndromic 6 607932
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None