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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:Seckel syndrome 2
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Accession:DOID:0070013 term browser browse the term
Definition:A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. (DO)
Synonyms:exact_synonym: Bird-headed dwarfism 2;   Microcephalic primordial dwarfism 2;   SCKL2;   Seckel-type dwarfism 2
 broad_synonym: RBBP8-related condition;   RBBP8-related disorders
 xref: MESH:C537534;   MIM:606744;   MONDO:0011715


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Seckel syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18174396 NCBI chr20:12,189,767...12,278,179
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Seckel syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11781686 PMID:16199547 PMID:18414213 PMID:24389050 PMID:25741868 More... NCBI chr18:3,198,188...3,263,643
Ensembl chr18:2,921,286...2,988,846 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      Seckel syndrome 15
        Seckel syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                complex cortical dysplasia with other brain malformations 1643
                  Malformations of Cortical Development, Group I 1398
                    microcephaly 1146
                      Seckel syndrome 2 2
paths to the root