FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Cohen syndrome ID (Ontology) DOID:0111590 (Human Disease)
Definition A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2.
Also Known As "COH1" ; "Hypotonia, obesity, and prominent incisors" ; "Pepper syndrome"
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DO.org
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 Genes
 Cohen syndrome       1
 for disease ribbon | Cohen syndrome       1
 model of | Cohen syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Cohen syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "COH1" EXACT OMO:0003012
    "Hypotonia, obesity, and prominent incisors" EXACT
    "Pepper syndrome" EXACT
Secondary IDs
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GARD:6126
MEDDRA:10049066
MESH:C536438
MIM:216550
ORDO:193
SNOMEDCT_US_2023_03_01:56604005
UMLS_CUI:C0265223