FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Carpenter syndrome 2 ID (Ontology) DOID:0061099 (Human Disease)
Definition A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13.
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 Genes
 Carpenter syndrome 2       1
 for disease ribbon | Carpenter syndrome 2       1
 model of | Carpenter syndrome 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
acrocephalosyndactylia           |
 |__Carpenter syndrome___________|
                                 Carpenter syndrome 2  1 rec.
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Is a autosomal recessive disease
Carpenter syndrome
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MIM:614976