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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:Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
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Accession:DOID:9006383 term browser browse the term
Definition:An autosomal recessive disorder characterized by a core phenotype of moderate to profound developmental delay, progressive microcephaly, epilepsy, and periventricular calcifications. Caused by homozygous or compound heterozygous mutation in the PPFIBP1 gene on chromosome 12p11.
Synonyms:exact_synonym: NEDSMBA
 primary_id: MIM:620024


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Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppfibp1 PPFIA binding protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities ClinVar
OMIM		 PMID:25741868 PMID:35830857 NCBI chr 4:179,807,579...179,951,428
Ensembl chr 4:179,808,794...179,951,428 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Neurodevelopmental Disorders 6965
        Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          monogenic disease 10925
            autosomal genetic disease 10412
              autosomal dominant disease 6762
                complex cortical dysplasia with other brain malformations 1642
                  Malformations of Cortical Development, Group I 1400
                    microcephaly 1147
                      Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities 1
paths to the root