FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term syndromic microphthalmia 13 ID (Ontology) DOID:0111811 (Human Disease)
Definition A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28.
Also Known As "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" ; "Maine microphthalmos" ; "MCOPS13" (for all, see Synonyms field below)
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 Genes
 syndromic microphthalmia 13       5
 for disease ribbon | syndromic microphthalmia 13       5
 model of | syndromic microphthalmia 13       5
Spanning Tree (Parents/Children)
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monogenic disease
 |__X-linked monogenic disease__
microphthalmia                  |
 |__syndromic microphthalmia____|
                                syndromic microphthalmia 13  5 rec.
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Is a X-linked monogenic disease
syndromic microphthalmia
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Synonyms
  • "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" EXACT
    "Maine microphthalmos" EXACT
    "MCOPS13" EXACT OMO:0003012
    "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" EXACT
Secondary IDs
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MIM:300915
ORDO:431140