FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term syndromic microphthalmia 1 ID (Ontology) DOID:0111799 (Human Disease)
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.
Also Known As "Lenz dysplasia" ; "Lenz microphthalmia" ; "Lenz type microphthalmia" (for all, see Synonyms field below)
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 Genes
 syndromic microphthalmia 1       1
 for disease ribbon | syndromic microphthalmia 1       1
 model of | syndromic microphthalmia 1       1
Spanning Tree (Parents/Children)
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monogenic disease
 |__X-linked monogenic disease__
microphthalmia                  |
 |__syndromic microphthalmia____|
                                syndromic microphthalmia 1  1 rec.
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Is a X-linked monogenic disease
syndromic microphthalmia
Part of
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Synonyms
  • "Lenz dysplasia" EXACT
    "Lenz microphthalmia" EXACT
    "Lenz type microphthalmia" EXACT
    "MCOPS1" EXACT OMO:0003012
    "syndromic microphthalmia 4" BROAD
Secondary IDs
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GARD:5066
GARD:87
MIM:309800
ORDO:568
ORDO:85275
SNOMEDCT_US_2023_03_01:717222003
UMLS_CUI:C1844948