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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:Glycosylphosphatidylinositol Deficiency
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Accession:DOID:9006834 term browser browse the term
Synonyms:exact_synonym: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1;   GPIBD1;   GPID;   PORTAL HYPERTENSION WITH SEIZURES AND/OR MACROCEPHALY GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
 primary_id: OMIM:610293
 alt_id: MESH:C537277
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Glycosylphosphatidylinositol Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigm phosphatidylinositol glycan anchor biosynthesis, class M ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol deficiency OMIM
ClinVar
PMID:16767100 PMID:17442906 PMID:25293775 PMID:28492532 PMID:31445883 NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381
JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol deficiency ClinVar PMID:25741868 NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
JBrowse link
developmental and epileptic encephalopathy 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 38
ClinVar
OMIM
PMID:25558065 PMID:25741868 PMID:27270415 PMID:28492532 PMID:32165008 NCBI chr19:52,692,337...52,704,156
Ensembl chr19:52,692,337...52,704,156
JBrowse link
developmental and epileptic encephalopathy 55 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55
ClinVar
OMIM
PMID:25741868 PMID:28334793 PMID:31139695 PMID:32042915 NCBI chr11:33,682,943...33,689,071
Ensembl chr11:33,682,948...33,689,321
JBrowse link
developmental and epileptic encephalopathy 77 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77
ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77
OMIM
ClinVar
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
JBrowse link
developmental and epileptic encephalopathy 80 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 ClinVar NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430
JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80
OMIM
ClinVar
PMID:17343268 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 Pigbos1 PIGB opposite strand 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 ClinVar PMID:17343268 PMID:31256876 NCBI chr 8:73,775,732...73,780,102
Ensembl chr 8:73,775,732...73,780,102
JBrowse link
Developmental and Epileptic Encephalopathy 95 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigs phosphatidylinositol glycan anchor biosynthesis, class S ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18
ClinVar
OMIM
PMID:25741868 PMID:30269814 PMID:33410539 NCBI chr10:63,222,611...63,237,190
Ensembl chr10:63,222,572...63,237,187
JBrowse link
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 15
ClinVar
OMIM
PMID:25741868 PMID:29100095 NCBI chr 7:108,051,896...108,055,479
Ensembl chr 7:108,051,861...108,055,484
JBrowse link
Glycosylphosphatidylinositol Biosynthesis Defect 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 ClinVar
OMIM
PMID:25741868 PMID:25741900 PMID:27694521 NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 ClinVar PMID:25741868 PMID:25741900 PMID:27694521 NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
JBrowse link
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigh phosphatidylinositol glycan anchor biosynthesis, class H ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 ClinVar
OMIM
PMID:29573052 PMID:29603516 NCBI chr 6:97,874,903...97,897,188
Ensembl chr 6:97,882,903...97,897,142
JBrowse link
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigu phosphatidylinositol glycan anchor biosynthesis, class U ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 21
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21
OMIM
ClinVar
PMID:25741868 PMID:31353022 NCBI chr 3:143,784,831...143,881,268
Ensembl chr 3:143,784,832...143,880,807
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:28327575 More... NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628
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 chr10:69,299,029...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: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295
JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365
JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 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: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 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: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 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: Hyperphosphatasia with mental retardation syndrome 5 ClinVar
OMIM
PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 PMID:32466763 NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
JBrowse link
Mental Retardation, Autosomal Recessive 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 42 OMIM
ClinVar
PMID:16199547 PMID:17711852 PMID:24482476 PMID:25741868 PMID:25804403 More... NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464
JBrowse link
Mental Retardation, Autosomal Recessive 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013
JBrowse link
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,184,638...1,216,392 JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131
JBrowse link
G Gak cyclin G associated kinase ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398
JBrowse link
G Gtpbp3 GTP binding protein 3 ISO ClinVar Annotator: match by term: PIGG-related neurodevelopmental disorder ClinVar PMID:25741868 NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857
JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
JBrowse link
G Pcgf3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26996948 More... NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132
JBrowse link
G Tmem175 transmembrane protein 175 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819
JBrowse link
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigk phosphatidylinositol glycan anchor biosynthesis, class K ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
ClinVar
OMIM
PMID:32220290 PMID:33392778 NCBI chr 2:241,630,021...241,715,493
Ensembl chr 2:241,630,053...241,716,134
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    Nutritional and Metabolic Diseases 5589
      disease of metabolism 5589
        lipid metabolism disorder 1023
          Glycosylphosphatidylinositol Deficiency 36
            Developmental and Epileptic Encephalopathy 95 1
            GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 1
            GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 1
            GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21 1
            Glycosylphosphatidylinositol Biosynthesis Defect 16 2
            Hyperphosphatasia with Mental Retardation Syndrome 4 1
            Hyperphosphatasia with Mental Retardation Syndrome 5 8
            Mental Retardation, Autosomal Recessive 42 1
            Mental Retardation, Autosomal Recessive 53 12
            Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures 1
            developmental and epileptic encephalopathy 38 1
            developmental and epileptic encephalopathy 55 1
            developmental and epileptic encephalopathy 77 1
            developmental and epileptic encephalopathy 80 3
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      nervous system disease 12204
        central nervous system disease 10473
          brain disease 9833
            epilepsy 2175
              Glycosylphosphatidylinositol Deficiency 36
                Developmental and Epileptic Encephalopathy 95 1
                GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 1
                GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 1
                GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21 1
                Glycosylphosphatidylinositol Biosynthesis Defect 16 2
                Hyperphosphatasia with Mental Retardation Syndrome 4 1
                Hyperphosphatasia with Mental Retardation Syndrome 5 8
                Mental Retardation, Autosomal Recessive 42 1
                Mental Retardation, Autosomal Recessive 53 12
                Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures 1
                developmental and epileptic encephalopathy 38 1
                developmental and epileptic encephalopathy 55 1
                developmental and epileptic encephalopathy 77 1
                developmental and epileptic encephalopathy 80 3
paths to the root