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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 IAGP ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25326635, PMID:25741868, PMID:31256876 NCBI chr15:55,318,939...55,355,648
Ensembl chr15:55,318,960...55,355,648
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G IAGP ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868, PMID:26996948, PMID:28492532 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868 NCBI chr 9:35,085,496...35,096,591
Ensembl chr 9:35,088,688...35,096,601
JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar
OMIM
PMID:1724113, PMID:17351347, PMID:20578257, PMID:20802478, PMID:21739589, PMID:22228761, PMID:22315194, PMID:24033266, PMID:24129430, PMID:24439110, PMID:25741868, PMID:26467025, PMID:27166760, PMID:28492532 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,472...26,798,398
Ensembl chr 1:26,787,472...26,798,398
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    Nutritional and Metabolic Diseases 5145
      disease of metabolism 5145
        phosphorus metabolism disease 257
          Hyperphosphatasia with Mental Retardation 54
            Hyperphosphatasia with Mental Retardation Syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      nervous system disease 13439
        central nervous system disease 11499
          brain disease 10682
            disease of mental health 8196
              developmental disorder of mental health 4750
                specific developmental disorder 2798
                  intellectual disability 2634
                    Hyperphosphatasia with Mental Retardation 54
                      Hyperphosphatasia with Mental Retardation Syndrome 1 4
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.