FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term syndromic microphthalmia 14 ID (Ontology) DOID:0111802 (Human Disease)
Definition A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3.
Also Known As "colobomatous microphthalmia-rhizomelic dysplasia syndrome" ; "MCOPS14" ; "MCSKS" (for all, see Synonyms field below)
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 Genes
 syndromic microphthalmia 14       2
 for disease ribbon | syndromic microphthalmia 14       2
 model of | syndromic microphthalmia 14       2
Spanning Tree (Parents/Children)
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monogenic disease
 |__autosomal genetic disease__
microphthalmia                 |
 |__syndromic microphthalmia___|
                               syndromic microphthalmia 14  2 rec.
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Is a autosomal genetic disease
syndromic microphthalmia
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Synonyms
  • "colobomatous microphthalmia-rhizomelic dysplasia syndrome" EXACT
    "MCOPS14" EXACT OMO:0003012
    "MCSKS" EXACT OMO:0003012
    "microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia" EXACT
    "microphthalmia/coloboma and skeletal dysplasia syndrome" EXACT
Secondary IDs
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MIM:615877
ORDO:424099