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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;   SUPT16H-RELATED CONDITION
 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 | ClinVar Annotator: match by term: SUPT16H-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31924697 PMID:36255738 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 19104
    Pathological Conditions, Signs and Symptoms 13617
      Anatomical Pathological Conditions 2753
        Agenesis of Corpus Callosum 379
          neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      nervous system disease 14347
        central nervous system disease 12612
          brain disease 11839
            disease of mental health 8435
              developmental disorder of mental health 5649
                specific developmental disorder 4609
                  intellectual disability 4384
                    autosomal dominant intellectual developmental disorder 458
                      neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1
paths to the root