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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 chrNW_004936471:16,828,910...16,857,140 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 chrNW_004936477:22,524,227...22,563,536 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 chrNW_004936524:3,116,627...3,126,681 JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis class V ISO OMIM NCBI chrNW_004936474:11,204,595...11,215,677 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    Nutritional and Metabolic Diseases 3467
      disease of metabolism 3467
        phosphorus metabolism disease 172
          Hyperphosphatasia with Mental Retardation 53
            Hyperphosphatasia with Mental Retardation Syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 11962
    disease of anatomical entity 11526
      nervous system disease 9457
        central nervous system disease 8005
          brain disease 7410
            disease of mental health 5397
              developmental disorder of mental health 2936
                specific developmental disorder 2214
                  intellectual disability 2074
                    Hyperphosphatasia with Mental Retardation 53
                      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.