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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
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Accession:DOID:9006603 term browser browse the term
Synonyms:xref: OMIM:PS615419
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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:25683120, PMID:25741868, PMID:26923739, PMID:27214504, PMID:27473021, PMID:27558372, PMID:27633718, PMID:28133733, PMID:28492532, 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
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
PMID:1122901, PMID:14534265, PMID:17448995, PMID:17825559, PMID:19092807, PMID:19348700, PMID:19854944, PMID:21040849, PMID:22542183, PMID:24033266, PMID:24267886, PMID:25741868, PMID:26545877, PMID:26708751, PMID:26708753, PMID:28492532, PMID:28708303, PMID:30167850, PMID:26545877 RGD:11528248 NCBI chr 9:73,492,907...73,686,578
Ensembl chr 9:73,493,027...73,683,000
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:18541960, PMID:23977024, PMID:25558065, PMID:25741868, PMID:27040691, PMID:27040692, PMID:27275012, PMID:27748029, PMID:28492532, PMID:29283439, PMID:32576985, PMID:32860008 NCBI chr 2:237,751,646...237,958,497
Ensembl chr 2:237,751,654...237,958,497
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Neurodevelopmental Disorders 4619
        intellectual disability 2166
          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
              Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 1
              Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    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
                        Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 1
                        Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.