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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 1
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Accession:DOID:9008988 term browser browse the term
Synonyms:exact_synonym: IHPRF;   IHPRF1;   Infantile neuroaxonal neurodegeneration with facial dysmorphism
 primary_id: OMIM:615419
For additional species annotation, visit the Alliance of Genome Resources.


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Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Infantile neuroaxonal neurodegeneration with facial dysmorphism
DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human)
DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human)
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
OMIM
ClinVar
PMID:23749988 PMID:24075186 PMID:25741868 PMID:28492532 PMID:29610177 PMID:30167850, PMID:23749988, PMID:24075186 RGD:12911215, RGD:12914762 NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Neurodevelopmental Disorders 5663
        intellectual disability 3433
          Infantile Hypotonia with Psychomotor Retardation 4
            Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3
              Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              developmental disorder of mental health 4361
                specific developmental disorder 3621
                  intellectual disability 3433
                    Infantile Hypotonia with Psychomotor Retardation 4
                      Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3
                        Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 1
paths to the root