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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
 alt_id: RDO:9001152
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation
ClinVar
OMIM
PMID:25741868 PMID:26358778 NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035
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: 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
RGD
PMID:23749988 PMID:24075186 PMID:25741868 PMID:28492532 PMID:29610177 More... RGD:12911215, RGD:12914762 NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
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
DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human)
ClinVar Annotator: match by OMIM:616801
ClinVar
OMIM
RGD
PMID:24033266 PMID:25741868 PMID:25741873 PMID:26545877 PMID:26708751 More... RGD:11528248 NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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: 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 More... NCBI chr 2:221,175,749...221,348,126
Ensembl chr 2:221,175,785...221,348,126
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Neurodevelopmental Disorders 5718
        intellectual disability 3475
          Infantile Hypotonia with Psychomotor Retardation 4
            Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies + 3
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Infantile Hypotonia with Psychomotor Retardation 4
                      Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies + 3
paths to the root