Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 4
go back to main search page
Accession:DOID:9007958 term browser browse the term
Synonyms:exact_synonym: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10;   GPIBD10;   HPMRS4
 primary_id: OMIM:615716
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hyperphosphatasia with Mental Retardation Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 4
ClinVar Annotator: match by OMIM:615716
OMIM
ClinVar
PMID:22315194, PMID:24439110, PMID:25741868, PMID:27120253, PMID:28390064, PMID:29620724, PMID:30217754, PMID:30345601 NCBI chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4557
        intellectual disability 2109
          Hyperphosphatasia with Mental Retardation 53
            Hyperphosphatasia with Mental Retardation Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            disease of mental health 5992
              developmental disorder of mental health 3114
                specific developmental disorder 2289
                  intellectual disability 2109
                    Hyperphosphatasia with Mental Retardation 53
                      Hyperphosphatasia with Mental Retardation Syndrome 4 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.