ONTOLOGY REPORT - ANNOTATIONS


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.


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Hyperphosphatasia with Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgap3 post-GPI attachment to proteins 3 JBrowse link 10 86,343,058 86,356,146 RGD:11554173
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O JBrowse link 5 58,461,055 58,470,699 RGD:8554872
RGD:11554173
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V JBrowse link 5 151,886,132 151,899,024 RGD:8554872
RGD:11554173
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W JBrowse link 10 72,194,774 72,198,415 RGD:11554173
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y JBrowse link 8 23,167,974 23,170,215 RGD:11554173
Hyperphosphatasia with Mental Retardation Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B JBrowse link 8 79,691,407 79,715,284 RGD:8554872
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V JBrowse link 5 151,886,132 151,899,024 RGD:7240710
RGD:8554872
Hyperphosphatasia with Mental Retardation Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef39 Rho guanine nucleotide exchange factor 39 JBrowse link 5 58,998,209 59,001,779 RGD:8554872
G Arid3c AT-rich interaction domain 3C JBrowse link 5 58,107,182 58,114,632 RGD:8554872
G Ca9 carbonic anhydrase 9 JBrowse link 5 59,008,277 59,015,535 RGD:8554872
G Ccdc107 coiled-coil domain containing 107 JBrowse link 5 58,995,211 58,998,620 RGD:8554872
G Ccl19 C-C motif chemokine ligand 19 JBrowse link 5 58,181,025 58,182,969 RGD:8554872
G Ccl21 C-C motif chemokine ligand 21 JBrowse link 5 58,197,678 58,198,782 RGD:8554872
G Ccl27 C-C motif chemokine ligand 27 JBrowse link 5 58,159,066 58,166,182 RGD:8554872
G Cd72 Cd72 molecule JBrowse link 5 58,943,021 58,950,373 RGD:8554872
G Cntfr ciliary neurotrophic factor receptor JBrowse link 5 58,041,114 58,078,687 RGD:8554872
G Creb3 cAMP responsive element binding protein 3 JBrowse link 5 59,063,532 59,068,196 RGD:8554872
G Dctn3 dynactin subunit 3 JBrowse link 5 58,098,706 58,106,706 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:8554872
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 JBrowse link 5 58,393,197 58,402,162 RGD:8554872
G Enho energy homeostasis associated JBrowse link 5 58,018,039 58,019,836 RGD:8554872
G Fam166b family with sequence similarity 166, member B JBrowse link 5 58,883,064 58,884,136 RGD:8554872
G Fam205a family with sequence similarity 205, member A JBrowse link 5 58,282,202 58,303,075 RGD:8554872
G Fam214b family with sequence similarity 214, member B JBrowse link 5 58,477,894 58,484,900 RGD:8554872
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Galt galactose-1-phosphate uridylyltransferase JBrowse link 5 58,144,679 58,147,946 RGD:8554872
G Gba2 glucosylceramidase beta 2 JBrowse link 5 59,068,081 59,079,719 RGD:8554872
G Il11ra1 interleukin 11 receptor subunit alpha 1 JBrowse link 5 58,149,150 58,159,072 RGD:8554872
G LOC100360821 rCG55159-like JBrowse link 5 58,416,058 58,421,991 RGD:8554872
G Msmp microseminoprotein, prostate associated RGD:8554872
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872
G Phf24 PHD finger protein 24 JBrowse link 5 58,359,744 58,387,446 RGD:8554872
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O JBrowse link 5 58,461,055 58,470,699 RGD:7240710
RGD:8554872
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 JBrowse link 5 59,080,290 59,088,777 RGD:8554872
G Rpp25l ribonuclease P/MRP subunit p25 like JBrowse link 5 58,096,037 58,097,577 RGD:8554872
G Rusc2 RUN and SH3 domain containing 2 JBrowse link 5 58,860,444 58,883,152 RGD:8554872
G Sigmar1 sigma non-opioid intracellular receptor 1 JBrowse link 5 58,121,824 58,124,687 RGD:8554872
G Sit1 signaling threshold regulating transmembrane adaptor 1 JBrowse link 5 58,985,912 58,987,538 RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 RGD:8554872
G Stoml2 stomatin like 2 JBrowse link 5 58,472,561 58,476,158 RGD:8554872
G Tesk1 testis associated actin remodelling kinase 1 JBrowse link 5 58,937,615 58,943,358 RGD:8554872
G Tln1 talin 1 JBrowse link 5 59,033,635 59,063,592 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
G Unc13b unc-13 homolog B JBrowse link 5 58,505,449 58,714,396 RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
Hyperphosphatasia with Mental Retardation Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgap2 post-GPI attachment to proteins 2 JBrowse link 1 167,309,021 167,335,550 RGD:7240710
RGD:8554872
Hyperphosphatasia with Mental Retardation Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgap3 post-GPI attachment to proteins 3 JBrowse link 10 86,343,058 86,356,146 RGD:7240710
RGD:8554872
Hyperphosphatasia with Mental Retardation Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aatf apoptosis antagonizing transcription factor JBrowse link 10 71,744,648 71,837,851 RGD:8554872
G Acaca acetyl-CoA carboxylase alpha JBrowse link 10 71,519,392 71,719,910 RGD:8554872
G Dhrs11 dehydrogenase/reductase 11 JBrowse link 10 72,144,042 72,153,496 RGD:8554872
G Ggnbp2 gametogenetin binding protein 2 JBrowse link 10 72,156,729 72,188,834 RGD:8554872
G Lhx1 LIM homeobox 1 JBrowse link 10 71,843,991 71,849,293 RGD:8554872
G Mrm1 mitochondrial rRNA methyltransferase 1 JBrowse link 10 72,136,241 72,143,075 RGD:8554872
G Myo19 myosin XIX JBrowse link 10 72,198,475 72,227,892 RGD:8554872
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W JBrowse link 10 72,194,774 72,198,415 RGD:8554872
RGD:7240710
Hyperphosphatasia with Mental Retardation Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y JBrowse link 8 23,167,974 23,170,215 RGD:8554872
RGD:7240710
G Pyurf PIGY upstream reading frame JBrowse link 4 88,584,242 88,587,877 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Neurodevelopmental Disorders 2756
        intellectual disability 1158
          Hyperphosphatasia with Mental Retardation 52
            Hyperphosphatasia with Mental Retardation Syndrome 1 2
            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 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Hyperphosphatasia with Mental Retardation 52
                      Hyperphosphatasia with Mental Retardation Syndrome 1 2
                      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

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