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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 chr 9:73,015,301...73,039,723
Ensembl chr 9:73,007,419...73,040,378
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 5:108,312,813...108,349,359
Ensembl chr 5:108,312,609...108,349,355
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 4:43,017,626...43,027,696
Ensembl chr 4:43,017,635...43,025,819
JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by OMIM:239300
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1
OMIM
ClinVar
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 4:133,659,359...133,673,995
Ensembl chr 4:133,660,387...133,672,647
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    Nutritional and Metabolic Diseases 3929
      disease of metabolism 3929
        phosphorus metabolism disease 186
          Hyperphosphatasia with Mental Retardation 54
            Hyperphosphatasia with Mental Retardation Syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 13427
    disease of anatomical entity 12903
      nervous system disease 10459
        central nervous system disease 8832
          brain disease 8169
            disease of mental health 5992
              developmental disorder of mental health 3232
                specific developmental disorder 2359
                  intellectual disability 2201
                    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.