Search Ontology:
Human Disease

syndromic microphthalmia 6

Term ID
DOID:0111805
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 the BMP4 gene on chromosome 14q22.2. (2)
References
Ontology
Human Disease   ( DOID:0111805 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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