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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:Parenti-Mignot Neurodevelopmental Syndrome
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Accession:DOID:9003182 term browser browse the term
Definition:An autosomal dominant neurodevelopmental disorder frequently characterized by impaired intellectual development, speech delay, motor delay, behavioral problems, and epilepsy. Caused by heterozygous mutation in the CHD5 gene on chromosome 1p36.
Synonyms:exact_synonym: PMNDS
 primary_id: MIM:619873


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Parenti-Mignot Neurodevelopmental Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Parenti-mignot neurodevelopmental syndrome ClinVar
OMIM		 PMID:25741868 PMID:33944996 NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Neurodevelopmental Disorders 6946
        Parenti-Mignot Neurodevelopmental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              Neurodevelopmental Disorders 6946
                Parenti-Mignot Neurodevelopmental Syndrome 1
paths to the root