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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:Hyperphosphatasia with Mental Retardation Syndrome 3
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Accession:DOID:9000867 term browser browse the term
Synonyms:exact_synonym: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8;   GPIBD8;   HPMRS3;   MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17;   MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21;   MRT17;   MRT21
 primary_id: OMIM:614207
 alt_id: RDO:0010101
For additional species annotation, visit the Alliance of Genome Resources.


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Hyperphosphatasia with Mental Retardation Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by OMIM:614207
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 3
OMIM
ClinVar
PMID:21629298, PMID:21643797, PMID:23561846, PMID:23561847, PMID:25741868, PMID:25741869 NCBI chr 1:167,309,021...167,335,550
Ensembl chr 1:167,309,051...167,334,741
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Neurodevelopmental Disorders 4554
        intellectual disability 2107
          Hyperphosphatasia with Mental Retardation 53
            Hyperphosphatasia with Mental Retardation Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              developmental disorder of mental health 3111
                specific developmental disorder 2287
                  intellectual disability 2107
                    Hyperphosphatasia with Mental Retardation 53
                      Hyperphosphatasia with Mental Retardation Syndrome 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.