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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
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Accession:DOID:9005046 term browser browse the term
Synonyms:exact_synonym: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10;   GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12;   GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6;   GPIBD10;   GPIBD12;   GPIBD6;   HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME;   HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME
 primary_id: MESH:C565495
 alt_id: RDO:0014113
 xref: OMIM:PS239300
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Hyperphosphatasia with Mental Retardation 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 CTD Direct Evidence: marker/mechanism CTD NCBI chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28545593 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome		 ClinVar
CTD		 PMID:1724113 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:25741868 NCBI chr 5:151,886,132...151,899,024
Ensembl chr 5:151,886,035...151,898,022 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437 		JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209 		JBrowse link
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 8:79,691,407...79,715,284
Ensembl chr 8:79,691,407...79,715,284 		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 chr14:2,410,339...2,438,630
Ensembl chr14:2,410,342...2,438,592 		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 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1
ClinVar Annotator: match by OMIM:239300		 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 5:151,886,132...151,899,024
Ensembl chr 5:151,886,035...151,898,022 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,998,209...59,001,779
Ensembl chr 5:58,995,249...59,001,800 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,107,182...58,114,632
Ensembl chr 5:58,107,707...58,113,553 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,943,021...58,950,373
Ensembl chr 5:58,943,027...58,950,373 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,041,114...58,078,687
Ensembl chr 5:58,041,146...58,078,545 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,063,532...59,068,196
Ensembl chr 5:59,063,531...59,068,188 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,098,706...58,106,706
Ensembl chr 5:58,098,706...58,106,706 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,393,197...58,402,162
Ensembl chr 5:58,393,233...58,401,870 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,018,039...58,019,836
Ensembl chr 5:58,018,039...58,019,836 		JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,883,064...58,884,136 JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125 		JBrowse link
G Fam214b family with sequence similarity 214, member B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,477,894...58,484,900
Ensembl chr 5:58,477,894...58,484,900 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072 		JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,416,058...58,421,991
Ensembl chr 5:58,416,432...58,420,342 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 Ensembl chr 5:59,084,626...59,085,676 JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,359,744...58,387,446
Ensembl chr 5:58,359,498...58,383,070 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2
ClinVar Annotator: match by OMIM:614749		 OMIM
ClinVar		 PMID:22683086 PMID:24033266 PMID:24417746 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28545593 PMID:28900819 PMID:30109123 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,080,290...59,088,777
Ensembl chr 5:59,080,765...59,088,523 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,096,037...58,097,577
Ensembl chr 5:58,096,213...58,097,577 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,985,912...58,987,538
Ensembl chr 5:58,985,829...58,987,760 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,472,561...58,476,158
Ensembl chr 5:58,472,550...58,476,251 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,937,615...58,943,358
Ensembl chr 5:58,937,615...58,943,358 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,505,449...58,714,396
Ensembl chr 5:58,505,500...58,715,576 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 3
ClinVar Annotator: match by OMIM:614207		 OMIM
ClinVar		 PMID:21629298 PMID:21643797 PMID:23561846 PMID:23561847 PMID:25741868 PMID:25741869 NCBI chr 1:167,309,021...167,335,550
Ensembl chr 1:167,309,051...167,334,741 		JBrowse link
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 PMID:32860008 NCBI chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006 		JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:71,744,648...71,837,851
Ensembl chr10:71,744,659...71,837,851 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910 		JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,144,042...72,153,496
Ensembl chr10:72,144,042...72,153,375 		JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,156,729...72,188,834
Ensembl chr10:72,156,728...72,188,308 		JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:71,843,991...71,849,293
Ensembl chr10:71,843,991...71,849,293 		JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,136,241...72,143,075
Ensembl chr10:72,136,246...72,142,533 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,198,475...72,227,892
Ensembl chr10:72,197,977...72,227,462 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar
OMIM		 PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437 		JBrowse link
Hyperphosphatasia with Mental Retardation 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: Hyperphosphatasia with mental retardation syndrome 6 ClinVar
OMIM		 PMID:26293662 NCBI chr 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209 		JBrowse link
G Pyurf PIGY upstream reading frame ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 6 ClinVar PMID:26293662 NCBI chr 4:88,584,242...88,587,877
Ensembl chr 4:88,584,242...88,587,877 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Neurodevelopmental Disorders 4657
        intellectual disability 2190
          Hyperphosphatasia with Mental Retardation 53
            Hyperphosphatasia with Mental Retardation Syndrome 1 4
            Hyperphosphatasia with Mental Retardation Syndrome 2 38
            Hyperphosphatasia with Mental Retardation Syndrome 3 1
            Hyperphosphatasia with Mental Retardation Syndrome 4 1
            Hyperphosphatasia with Mental Retardation Syndrome 5 8
            Hyperphosphatasia with Mental Retardation Syndrome 6 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    Hyperphosphatasia with Mental Retardation 53
                      Hyperphosphatasia with Mental Retardation Syndrome 1 4
                      Hyperphosphatasia with Mental Retardation Syndrome 2 38
                      Hyperphosphatasia with Mental Retardation Syndrome 3 1
                      Hyperphosphatasia with Mental Retardation Syndrome 4 1
                      Hyperphosphatasia with Mental Retardation Syndrome 5 8
                      Hyperphosphatasia with Mental Retardation Syndrome 6 2
paths to the root