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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:microcephaly, growth deficiency, seizures, and brain malformations
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Accession:DOID:0081051 term browser browse the term
Definition:A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: MIGSB
 primary_id: OMIM:618346
 alt_id: DOID:9008429
For additional species annotation, visit the Alliance of Genome Resources.



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microcephaly, growth deficiency, seizures, and brain malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Microcephaly, growth deficiency, seizures, and brain malformations OMIM
ClinVar
PMID:25741868 PMID:26416026 PMID:28492532 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      microcephaly, growth deficiency, seizures, and brain malformations 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal dominant disease 5125
                complex cortical dysplasia with other brain malformations 1426
                  Malformations of Cortical Development, Group I 1271
                    microcephaly 1106
                      microcephaly, growth deficiency, seizures, and brain malformations 1
paths to the root