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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Cohen syndrome
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Accession:DOID:0111590 term browser browse the term
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 VPS13B on chromosome 8q22.2. (DO)
Synonyms:exact_synonym: CHS1;   COH;   COH1;   Norio syndrome;   Obesity-Hypotonia Syndrome;   Pepper syndrome;   hypotonia, obesity, and prominent incisors;   prominent incisors-obesity-hypotonia syndrome;   trapped neutrophil syndrome
 primary_id: MESH:C536438
 alt_id: OMIA:001428;   OMIM:216550
 xref: GARD:6126;   ORDO:193
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Cohen syndrome 2
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                complex cortical dysplasia with other brain malformations 716
                  Malformations of Cortical Development, Group I 573
                    microcephaly 421
                      Cohen syndrome 2
paths to the root