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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 1
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Accession:DOID:0070433 term browser browse the term
Definition:A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2;   GPIBD2;   HPMRS1;   HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 1;   Hyperphosphatasia with Mental Retardation Syndrome 1;   Mabry syndrome
 broad_synonym: PIGV-related condition
 alt_id: DOID:9002100
 xref: MIM:239300;   MONDO:0009398


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hyperphosphatasia with impaired intellectual development 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 intellectual disability syndrome 1 ClinVar PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:82,632,445...82,656,323 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,549,891...1,578,167 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 ClinVar NCBI chr10:47,641,478...47,699,200
Ensembl chr10:47,641,098...47,699,453 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 ClinVar PMID:25741868 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:62,037,308...62,052,075 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO DNA:missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: PIGV-related condition 		OMIM
ClinVar
RGD		 PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 More... RGD:243048420 NCBI chr 5:151,173,486...151,185,748
Ensembl chr 5:151,173,044...151,185,376 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        lipid metabolism disorder 1908
          Glycosylphosphatidylinositol Deficiency 52
            hyperphosphatasia with impaired intellectual development syndrome 1 5
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              developmental disorder of mental health 5679
                specific developmental disorder 4650
                  intellectual disability 4415
                    autosomal recessive intellectual developmental disorder 299
                      hyperphosphatasia with impaired intellectual development syndrome 72
                        hyperphosphatasia with impaired intellectual development syndrome 1 5
paths to the root