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
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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