OBO ID: DOID:0111799
Term Name: syndromic microphthalmia 1 Search Ontology:
Synonyms:
  • Lenz dysplasia
  • Lenz microphthalmia
  • Lenz type microphthalmia
  • MCOPS1
  • syndromic microphthalmia 4
Definition: A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in NAA10 on chromosome Xq28. (4)
References:
Ontology: Human Disease   (DOID:0111799)
OTHER syndromic microphthalmia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NAA10 Microphthalmia, syndromic 1 309800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None