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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
 broad_synonym: NALCN-RELATED CONDITION;   NALCN-RELATED DISORDERS
 primary_id: OMIM:615419


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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: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | ClinVar Annotator: match by term: NALCN-related condition | ClinVar Annotator: match by term: NALCN-related disorders OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23749988 PMID:24075186 PMID:25533962 More... NCBI chr13:82,215,094...82,573,501
Ensembl chr13:101,354,054...101,693,223 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15686
    Developmental Disease 13612
      Neurodevelopmental Disorders 6862
        intellectual disability 4330
          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 15686
    disease of anatomical entity 15297
      nervous system disease 13323
        central nervous system disease 11956
          brain disease 11239
            disease of mental health 8128
              developmental disorder of mental health 5556
                specific developmental disorder 4520
                  intellectual disability 4330
                    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