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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: MIM: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 chr10:83,883,406...83,903,407 		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 chr14:1,549,891...1,578,167 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: MABRY SYNDROME 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 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 5:62,037,308...62,052,075 		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 5:151,173,486...151,185,748
Ensembl chr 5:151,173,044...151,185,376 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:70,246,904...70,248,412
Ensembl chr10:70,243,810...70,250,329 		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 8:28,965,617...28,968,508 		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 8:82,632,445...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
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: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:62,548,303...62,551,870 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:61,685,511...61,692,821 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,056,654...62,070,338
Ensembl chr 5:62,056,654...62,064,613 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:62,558,823...62,565,626 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:62,544,714...62,548,709 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:63,000,138...63,010,123 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:61,759,220...61,772,022 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:61,776,413...61,777,540 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:61,737,261...61,743,522 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,493,155...62,500,779
Ensembl chr 5:62,493,161...62,500,519 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:62,470,367...62,478,198 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:63,041,184...63,059,215 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:61,619,326...61,645,795 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:62,613,638...62,619,500 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:61,676,950...61,684,903 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:61,525,999...61,596,810 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,972,637...61,981,887
Ensembl chr 5:61,972,706...61,981,860 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:61,596,860...61,598,657 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:62,706,122...62,715,137 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:62,027,500...62,035,787 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:61,722,466...61,726,125 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:62,618,177...62,630,308 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,966,163...62,998,016
Ensembl chr 5:62,966,195...62,998,716 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:63,062,850...63,103,251 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,700,383...62,702,638
Ensembl chr 5:62,700,384...62,702,915 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:62,778,112...62,778,954 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:62,634,721...62,635,970 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:62,876,908...62,877,867 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:62,757,159...62,758,097 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:61,939,900...61,966,875 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO 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 5:62,037,308...62,052,075 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,898,717...62,965,274
Ensembl chr 5:62,898,668...62,965,270 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:62,630,133...62,638,864 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,674,299...61,675,844
Ensembl chr 5:61,672,199...61,675,168 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:62,444,665...62,471,314 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:61,700,021...61,702,855 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:62,536,009...62,537,911 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:62,693,122...62,699,664 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:61,861,071...61,878,519 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:61,995,800...61,999,889 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,052,042...62,055,639
Ensembl chr 5:62,052,045...62,055,670 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,487,763...62,493,492
Ensembl chr 5:62,487,763...62,493,492 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:62,583,731...62,613,687 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:62,715,203...62,744,174 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:62,084,819...62,299,884 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387 		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 ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 OMIM
ClinVar		 PMID:2164379 PMID:21629298 PMID:21643797 PMID:23561846 PMID:23561847 More... NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:166,003,523...166,030,088 		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: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 | ClinVar Annotator: match by term: Hyperphosphatasia with impaired intellectual development syndrome 4 | ClinVar Annotator: match by term: PGAP3-related condition OMIM
ClinVar		 PMID:2443911 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22315194 More... NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,883,406...83,903,407 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 ClinVar NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:147,773,028...147,850,667 		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 chr10:69,796,502...69,889,671
Ensembl chr10:69,794,007...69,889,634 		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 chr10:69,511,627...69,773,888
Ensembl chr10:69,511,857...69,773,888 		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 chr10:69,535,160...69,583,661 		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 chr10:69,322,062...69,344,856
Ensembl chr10:69,322,114...69,428,714 		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 chr10:70,195,637...70,205,735
Ensembl chr10:70,195,637...70,205,893 		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 chr10:69,433,949...69,463,863
Ensembl chr10:69,426,730...69,462,837 		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 chr10:70,208,950...70,246,260 		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 chr10:69,233,377...69,287,360
Ensembl chr10:69,233,131...69,287,361 		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 chr10:69,894,288...69,901,076 		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 chr10:70,187,842...70,194,785
Ensembl chr10:70,188,748...70,194,131 		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 chr10:70,250,500...70,279,867
Ensembl chr10:70,250,022...70,279,858 		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 chr10:70,246,904...70,248,412
Ensembl chr10:70,243,810...70,250,329 		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 chr10:69,322,114...69,428,714 		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 chr10:69,463,966...69,511,612
Ensembl chr10:69,463,968...69,511,607 		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: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6 OMIM
ClinVar		 PMID:25741868 PMID:26293662 PMID:28492532 NCBI chr 8:20,689,621...20,691,863
Ensembl chr 8:28,965,617...28,968,508 		JBrowse link
G Pyurf PIGY upstream open reading frame ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6 ClinVar PMID:25741868 PMID:26293662 PMID:28492532 NCBI chr 4:87,501,859...87,505,494
Ensembl chr 4:88,831,676...88,836,274 		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
        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 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
                        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