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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 dysmorphic facies and thin corpus callosum
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Accession:DOID:0070469 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. (DO)
Synonyms:exact_synonym: NEDDFAC
 primary_id: MIM:619480
 alt_id: DOID:9000340


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neurodevelopmental disorder with dysmorphic facies and thin corpus callosum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum OMIM
ClinVar		 PMID:25741868 PMID:31924697 NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18973
    Pathological Conditions, Signs and Symptoms 13385
      Anatomical Pathological Conditions 2673
        Agenesis of Corpus Callosum 370
          neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1
Path 2
Term Annotations click to browse term
  disease 18973
    disease of anatomical entity 18268
      nervous system disease 14122
        central nervous system disease 12443
          brain disease 11681
            disease of mental health 8329
              developmental disorder of mental health 5559
                specific developmental disorder 4525
                  intellectual disability 4305
                    autosomal dominant intellectual developmental disorder 448
                      neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1
paths to the root