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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 ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | ClinVar Annotator: match by term: ZNF148-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12840224 PMID:25741868 PMID:27964749 NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Pathological Conditions, Signs and Symptoms 13316
      Anatomical Pathological Conditions 2652
        Agenesis of Corpus Callosum 369
          GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            disease of mental health 8291
              developmental disorder of mental health 5529
                specific developmental disorder 4490
                  intellectual disability 4281
                    GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
paths to the root