FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cleft palate, cardiac defects, and intellectual disability ID (Ontology) DOID:0111697 (Human Disease)
Definition A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14.
Also Known As "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies" ; "cleft palate, cardiac defects, and mental retardation" ; "CPCMR"
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 Genes
 cleft palate, cardiac defects, and intellectual disability       1
 for disease ribbon | cleft palate, cardiac defects, and intellectual disability       1
 model of | cleft palate, cardiac defects, and intellectual disability       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                cleft palate, cardiac defects, and intellectual disability  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies" EXACT
    "cleft palate, cardiac defects, and mental retardation" EXACT
    "CPCMR" EXACT OMO:0003012
Secondary IDs
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MESH:C563414
MIM:600987
UMLS_CUI:C1832950