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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:Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3
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Accession:DOID:9006056 term browser browse the term
Definition:A severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. (OMIM)
Synonyms:exact_synonym: IHPRF3;   SYNDROMIC INFANTILE ENCEPHALOPATHY
 primary_id: OMIM:616900
For additional species annotation, visit the Alliance of Genome Resources.


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Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbck TBC1 domain containing kinase ISO ClinVar Annotator: match by term: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy
ClinVar
OMIM
PMID:23977024 PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 PMID:28492532 PMID:29283439 PMID:31618753 PMID:32576985 PMID:32860008 NCBI chr 2:237,751,646...237,958,497
Ensembl chr 2:237,751,654...237,958,497
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      Neurodevelopmental Disorders 5597
        intellectual disability 3399
          Infantile Hypotonia with Psychomotor Retardation 4
            Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3
              Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 1
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        central nervous system disease 10253
          brain disease 9616
            disease of mental health 6957
              developmental disorder of mental health 4288
                specific developmental disorder 3547
                  intellectual disability 3399
                    Infantile Hypotonia with Psychomotor Retardation 4
                      Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3
                        Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 1
paths to the root