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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
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Accession:DOID:0070431 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. (DO)
Synonyms:exact_synonym: HPMRS;   Mabry disease;   Mabry syndrome;   hyperphosphatasia with intellectual disability syndrome;   hyperphosphatasia with mental retardation;   hyperphosphatasia with mental retardation syndrome;   hyperphosphatasia-intellectual disability syndrome
 primary_id: MESH:C565495
 alt_id: DOID:9005046
 xref: OMIM:PS239300;   ORDO:247262


show annotations for term's descendants           Sort by:
hyperphosphatasia with impaired intellectual development syndrome 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
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome		 CTD
ClinVar		 PMID:25741868 PMID:27618451 PMID:30217754 PMID:30345601 NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: MABRY SYNDROME ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: MABRY SYNDROME ClinVar NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome		 CTD
ClinVar		 PMID:22683086 PMID:24033266 PMID:24417746 PMID:25741868 PMID:28492532 More... NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome | ClinVar Annotator: match by term: MABRY SYNDROME		 CTD
ClinVar		 PMID:1724113 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 More... NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585 		JBrowse link
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 8:73,751,798...73,775,679 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 ClinVar NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145 		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 5:57,245,166...57,254,146 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO DNA:missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: MABRY SYNDROME		 OMIM
ClinVar
RGD		 PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 More... RGD:243048420 NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533 		JBrowse link
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 5:57,752,509...57,756,079
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 5:56,889,649...56,896,959
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 5:57,763,234...57,769,838
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 5:58,206,676...58,208,563
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 5:56,963,364...56,965,308
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 5:56,980,557...56,981,661
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 5:56,941,402...56,948,511
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 5:58,244,253...58,263,480
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 5:56,823,448...56,861,049
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 5:57,817,865...57,823,233
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 5:56,730,179...56,800,926
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 5:57,176,840...57,186,067
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 5:57,822,389...57,834,522
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 5:58,170,417...58,202,258
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 5:58,267,189...58,307,396
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 5:57,904,613...57,906,868
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 5:56,931,824...56,941,408
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 5:57,883,171...57,901,590
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 5:58,102,961...58,169,516
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 5:56,878,420...56,879,956
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 5:56,904,155...56,907,012
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 5:57,740,212...57,741,838
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 5:57,691,922...57,697,698
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 5:57,787,670...57,817,900
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 5:57,919,473...57,948,419
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 5:57,288,999...57,504,110
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 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
hyperphosphatasia with impaired intellectual development 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3		 OMIM
CTD
ClinVar		 PMID:2164379 PMID:21629298 PMID:21643797 PMID:23561846 PMID:23561847 More... NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114 		JBrowse link
hyperphosphatasia with impaired intellectual development 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: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 OMIM
ClinVar		 PMID:2443911 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22315194 More... NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 ClinVar NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
hyperphosphatasia with impaired intellectual development 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: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G C10h17orf78 similar to human chromosome 17 open reading frame 78 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,034,887...69,054,100
Ensembl chr10:69,037,708...69,054,113 		JBrowse link
G Ddx52 DExD-box helicase 52 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,824,594...68,847,400
Ensembl chr10:68,824,645...68,848,266 		JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295 		JBrowse link
G Dusp14 dual specificity phosphatase 14 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,936,483...68,966,347
Ensembl chr10:68,935,330...68,965,329 		JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888 		JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,396,829...69,403,617
Ensembl chr10:69,396,829...69,403,617 		JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,690,406...69,697,326
Ensembl chr10:69,690,421...69,696,709 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 PMID:30679815 More... NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 OMIM
ClinVar		 PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
G Synrg synergin, gamma ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,848,828...68,931,252
Ensembl chr10:68,849,642...68,931,250 		JBrowse link
G Tada2a transcriptional adaptor 2A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,966,502...69,014,149
Ensembl chr10:68,966,502...69,014,105 		JBrowse link
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 chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585 		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 chr 4:87,501,859...87,505,494
Ensembl chr 4:87,501,859...87,505,494 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        phosphorus metabolism disease 211
          hyperphosphatasia with impaired intellectual development syndrome 72
            hyperphosphatasia with impaired intellectual development syndrome 1 5
            hyperphosphatasia with impaired intellectual development syndrome 2 49
            hyperphosphatasia with impaired intellectual development syndrome 3 1
            hyperphosphatasia with impaired intellectual development syndrome 4 2
            hyperphosphatasia with impaired intellectual development syndrome 5 14
            hyperphosphatasia with impaired intellectual development syndrome 6 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    autosomal recessive intellectual developmental disorder 293
                      hyperphosphatasia with impaired intellectual development syndrome 72
                        hyperphosphatasia with impaired intellectual development syndrome 1 5
                        hyperphosphatasia with impaired intellectual development syndrome 2 49
                        hyperphosphatasia with impaired intellectual development syndrome 3 1
                        hyperphosphatasia with impaired intellectual development syndrome 4 2
                        hyperphosphatasia with impaired intellectual development syndrome 5 14
                        hyperphosphatasia with impaired intellectual development syndrome 6 2
paths to the root