Search Ontology:
Human Disease

syndromic microphthalmia 1

Term ID
DOID:0111799
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 the NAA10 gene on chromosome Xq28. (4)
References
  • GARD:5066
  • GARD:87
  • MIM:309800
  • ORDO:568
  • ORDO:85275
  • SNOMEDCT_US_2023_03_01:717222003
  • UMLS_CUI:C1844948
Ontology
Human Disease   ( DOID:0111799 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.