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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:Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
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Accession:DOID:9008892 term browser browse the term
Definition:An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. (OMIM)
Synonyms:exact_synonym: IDDDFP
 primary_id: OMIM:617333
For additional species annotation, visit the Alliance of Genome Resources.


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Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis
ClinVar
OMIM
PMID:25741868 PMID:27939639 PMID:27939640 NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Neurodevelopmental Disorders 5563
        intellectual disability 3384
          Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              developmental disorder of mental health 4267
                specific developmental disorder 3531
                  intellectual disability 3384
                    Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 1
paths to the root