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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 impaired intellectual development syndrome 6
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Accession:DOID:0070437 term browser browse the term
Definition:A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. (DO)
Synonyms:exact_synonym: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12;   GPIBD12;   GPIBD40;   HPMRS6;   Hyperphosphatasia with Mental Retardation Syndrome 6;   glycosylphosphatidylinositol biosynthesis defect 40
 primary_id: OMIM:616809
 alt_id: DOID:9001811

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hyperphosphatasia with impaired intellectual development syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigy phosphatidylinositol glycan anchor biosynthesis class Y ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 OMIM
ClinVar		 PMID:25741868 PMID:26293662 PMID:28492532 NCBI chrNW_004936685:984,606...985,106 JBrowse link
G Pyurf PIGY upstream open reading frame ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 ClinVar PMID:25741868 PMID:26293662 PMID:28492532 NCBI chrNW_004936685:985,007...987,646
Ensembl chrNW_004936685:982,499...988,368 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6785
      disease of metabolism 6785
        phosphorus metabolism disease 195
          hyperphosphatasia with impaired intellectual development syndrome 69
            hyperphosphatasia with impaired intellectual development syndrome 6 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14119
      nervous system disease 12342
        central nervous system disease 11056
          brain disease 10379
            disease of mental health 7459
              developmental disorder of mental health 5073
                specific developmental disorder 4194
                  intellectual disability 4008
                    autosomal recessive intellectual developmental disorder 279
                      hyperphosphatasia with impaired intellectual development syndrome 69
                        hyperphosphatasia with impaired intellectual development syndrome 6 2
paths to the root