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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:GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
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Accession:DOID:9005641 term browser browse the term
Definition:An intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. (OMIM)
Synonyms:exact_synonym: GDACCF;   ZNF148-RELATED CONDITION
 primary_id: OMIM:617260


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GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp148 zinc finger protein 148 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | ClinVar Annotator: match by term: ZNF148-related condition		 OMIM
CTD
ClinVar		 PMID:12840224 PMID:25741868 PMID:27964749 PMID:28492532 NCBI chr16:33,201,145...33,324,273
Ensembl chr16:33,201,206...33,324,733 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Pathological Conditions, Signs and Symptoms 12356
      Anatomical Pathological Conditions 2584
        Agenesis of Corpus Callosum 372
          GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              developmental disorder of mental health 5587
                specific developmental disorder 4533
                  intellectual disability 4334
                    GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
paths to the root