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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
 broad_synonym: WDR4-RELATED CONDITION
 primary_id: OMIM:618346
 alt_id: DOID:9008429



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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 | ClinVar Annotator: match by term: WDR4-related condition 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 21147
    syndrome 10752
      microcephaly, growth deficiency, seizures, and brain malformations 1
Path 2
Term Annotations click to browse term
  disease 21147
    Developmental Disease 18462
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18323
        genetic disease 18267
          monogenic disease 10290
            autosomal genetic disease 9435
              autosomal dominant disease 6188
                complex cortical dysplasia with other brain malformations 1582
                  Malformations of Cortical Development, Group I 1370
                    microcephaly 1122
                      microcephaly, growth deficiency, seizures, and brain malformations 1
paths to the root