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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 2
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Accession:DOID:0070434 term browser browse the term
Definition:A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. (DO)
Synonyms:exact_synonym: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6;   GPIBD6;   HPMRS2;   Hyperphosphatasia with Mental Retardation Syndrome 2
 primary_id: MIM:614749
 alt_id: DOID:9003727



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hyperphosphatasia with impaired intellectual development 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: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,548,300...62,551,870
Ensembl chr 5:57,752,509...57,756,109
JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,685,511...61,692,821
Ensembl chr 5:56,890,042...56,895,888
JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838
JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:63,002,427...63,004,314
Ensembl chr 5:58,206,633...58,208,951
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:56,963,364...56,965,308
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:56,980,558...56,981,686
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:56,941,402...56,948,506
JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:63,022,046...63,059,223
Ensembl chr 5:58,245,442...58,263,472
JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,619,326...61,657,359
Ensembl chr 5:56,823,965...56,841,392
JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:57,817,832...57,824,390
JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:56,730,179...56,800,925
JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,972,637...61,981,887
Ensembl chr 5:57,176,845...57,185,490
JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:57,822,389...57,834,072
JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,966,163...62,998,016
Ensembl chr 5:58,170,425...58,202,272
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:58,267,210...58,307,499
JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,700,383...62,702,638
Ensembl chr 5:57,904,614...57,907,097
JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:56,935,516...56,941,408
JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22683086 PMID:24033266 More... NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,898,717...62,965,274
Ensembl chr 5:58,102,981...58,169,502
JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,674,299...61,675,844
Ensembl chr 5:56,876,316...56,880,013
JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:56,904,159...56,907,017
JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,536,003...62,538,230
Ensembl chr 5:57,740,218...57,741,838
JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,487,763...62,493,492
Ensembl chr 5:57,691,969...57,697,698
JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:57,787,943...57,817,900
JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,715,238...62,744,187
Ensembl chr 5:57,919,804...57,946,772
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:57,289,227...57,502,926
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        phosphorus metabolism disease 211
          hyperphosphatasia with impaired intellectual development syndrome 72
            hyperphosphatasia with impaired intellectual development syndrome 2 49
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              developmental disorder of mental health 5648
                specific developmental disorder 4610
                  intellectual disability 4383
                    autosomal recessive intellectual developmental disorder 297
                      hyperphosphatasia with impaired intellectual development syndrome 72
                        hyperphosphatasia with impaired intellectual development syndrome 2 49
paths to the root