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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 HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES
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Accession:DOID:9004184 term browser browse the term
Definition:This is a disease characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features.
Synonyms:exact_synonym: IDDHISD;   TNPO2-RELATED CONDITION
 primary_id: OMIM:619556
For additional species annotation, visit the Alliance of Genome Resources.



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INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition OMIM
ClinVar
PMID:25741868 PMID:34314705 NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Language Development Disorders 46
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            disease of mental health 7496
              developmental disorder of mental health 4864
                specific developmental disorder 4125
                  communication disorder 298
                    language disorder 132
                      Language Development Disorders 46
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES 1
paths to the root