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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
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Accession:DOID:9001343 term browser browse the term
Synonyms:exact_synonym: IHPMR
 primary_id: OMIM:616816

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Infantile Hypotonia with Psychomotor Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation OMIM
ClinVar		 PMID:25741868 PMID:26358778 PMID:28492532 NCBI chrNW_004936602:360,048...374,960
Ensembl chrNW_004936602:360,604...374,952 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 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 ClinVar PMID:25741868 NCBI chrNW_004936472:9,502,054...9,789,714
Ensembl chrNW_004936472:9,502,030...9,789,638 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies ClinVar PMID:24033266 PMID:25741868 PMID:26545877 PMID:26708751 PMID:26708753 More... NCBI chrNW_004936845:268,357...454,557
Ensembl chrNW_004936845:268,919...454,031 		JBrowse link
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 chrNW_004936472:9,502,054...9,789,714
Ensembl chrNW_004936472:9,502,030...9,789,638 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder | ClinVar Annotator: match by term: UNC80-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936845:268,357...454,557
Ensembl chrNW_004936845:268,919...454,031 		JBrowse link
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: Syndromic Infantile Encephalopathy | ClinVar Annotator: match by term: TBCK-related condition | ClinVar Annotator: match by term: TBCK-related disorders OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 More... NCBI chrNW_004936814:837,394...1,052,220
Ensembl chrNW_004936814:837,345...1,052,572 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Neurodevelopmental Disorders 6302
        intellectual disability 4008
          Infantile Hypotonia with Psychomotor Retardation 4
            Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies + 3
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              developmental disorder of mental health 5072
                specific developmental disorder 4193
                  intellectual disability 4008
                    Infantile Hypotonia with Psychomotor Retardation 4
                      Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies + 3
paths to the root