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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 1
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Accession:DOID:9002100 term browser browse the term
Synonyms:exact_synonym: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2;   GPIBD2;   HPMRS1;   HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 1;   Mabry syndrome
 primary_id: OMIM:239300
 alt_id: RDO:0008328
For additional species annotation, visit the Alliance of Genome Resources.


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Hyperphosphatasia with Mental Retardation Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGB phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr15:34,288,600...34,325,079
Ensembl chr15:52,611,474...52,647,797
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr 4:499,795...540,453
Ensembl chr 4:521,807...561,790
JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868 NCBI chr 9:34,939,258...34,947,167
Ensembl chr 9:35,744,664...35,752,522
JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V ISO OMIM NCBI chr 1:26,051,863...26,065,415
Ensembl chr 1:27,109,102...27,119,055
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12771
    Nutritional and Metabolic Diseases 3585
      disease of metabolism 3585
        phosphorus metabolism disease 185
          Hyperphosphatasia with Mental Retardation 53
            Hyperphosphatasia with Mental Retardation Syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 12771
    disease of anatomical entity 12303
      nervous system disease 10063
        central nervous system disease 8519
          brain disease 7896
            disease of mental health 5794
              developmental disorder of mental health 3157
                specific developmental disorder 2333
                  intellectual disability 2189
                    Hyperphosphatasia with Mental Retardation 53
                      Hyperphosphatasia with Mental Retardation Syndrome 1 4
paths to the root