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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 2
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Accession:DOID:9000999 term browser browse the term
Definition:A severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy.
Synonyms:exact_synonym: HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME;   IHPRF2;   UNC80-RELATED CONDITION;   UNC80-RELATED DISORDER
 primary_id: OMIM:616801


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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 LOC121725110 Sharpr-MPRA regulatory region 8902 IAGP ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 ClinVar PMID:25741868 PMID:26708753 NCBI chr 2:209,872,685...209,872,979 JBrowse link
G LOC122861286 Sharpr-MPRA regulatory region 8450 IAGP ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:209,817,885...209,818,179 JBrowse link
G LOC126806490 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:210782411-210783610 IAGP ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-related condition		 ClinVar PMID:25741868 PMID:26708751 PMID:28492532 NCBI chr 2:209,917,687...209,918,886 JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP
EXP		 DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human)
ClinVar Annotator: match by term: UNC80-related condition
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-related condition
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... RGD:11528248 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36466
      Neurodevelopmental Disorders 13565
        intellectual disability 7167
          Infantile Hypotonia with Psychomotor Retardation 10
            Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 8
              Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32348
      nervous system disease 26239
        central nervous system disease 23473
          brain disease 21908
            disease of mental health 17217
              developmental disorder of mental health 12016
                specific developmental disorder 7409
                  intellectual disability 7167
                    Infantile Hypotonia with Psychomotor Retardation 10
                      Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 8
                        Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 4
paths to the root