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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
  • GARD:3645
  • MESH:C566440
  • MIM:607932
  • ORDO:139471
  • SNOMEDCT_US_2023_03_01:721878003
  • UMLS_CUI:C1864689
Ontology
Human Disease   ( DOID:0111805 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations