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
• OMIM:309800
• ORDO:568
• ORDO:85275
• SNOMEDCT_US_2023_03_01:717222003
• UMLS_CUI:C1844948

Ontology

Human Disease   ( DOID:0111799 )