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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;   RDO:0003090
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 chr13:90,759,260...90,762,957
Ensembl chr13:90,759,260...90,762,957 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol deficiency ClinVar PMID:25741868 NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437 		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:32165008 NCBI chr19:57,484,720...57,496,539
Ensembl chr19:57,484,634...57,496,695 		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: Early infantile epileptic encephalopathy 55		 ClinVar
OMIM		 PMID:28334793 PMID:31139695 PMID:32042915 NCBI chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275 		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:27513193 PMID:28492532 PMID:31148362 PMID:32588908 NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549 		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 8:79,660,634...79,692,044
Ensembl chr 8:79,660,657...79,692,039 		JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 OMIM
ClinVar		 PMID:17343268 PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr 8:79,691,407...79,715,284
Ensembl chr 8:79,691,407...79,715,284 		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 8:79,715,337...79,719,706 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
OMIM		 PMID:25741868 PMID:29100095 NCBI chr 7:117,394,367...117,397,950
Ensembl chr 7:117,394,372...117,397,956 		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 chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304 		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 chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479 		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 6:102,258,621...102,272,826
Ensembl chr 6:102,263,337...102,272,777 		JBrowse link
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 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
OMIM		 PMID:25741868 PMID:30269814 NCBI chr10:65,591,638...65,606,175
Ensembl chr10:65,591,622...65,606,202 		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 OMIM
ClinVar		 PMID:31353022 NCBI chr 3:150,803,096...150,885,597
Ensembl chr 3:150,803,097...150,885,616 		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 chr10:71,744,648...71,837,851
Ensembl chr10:71,744,659...71,837,851 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910 		JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,144,042...72,153,496
Ensembl chr10:72,144,042...72,153,375 		JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,156,729...72,188,834
Ensembl chr10:72,156,728...72,188,308 		JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:71,843,991...71,849,293
Ensembl chr10:71,843,991...71,849,293 		JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,136,241...72,143,075
Ensembl chr10:72,136,246...72,142,533 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,198,475...72,227,892
Ensembl chr10:72,197,977...72,227,462 		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 chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437 		JBrowse link
Mental Retardation, Autosomal Recessive 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar
OMIM		 PMID:25741868 PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:2,410,339...2,438,630
Ensembl chr14:2,410,342...2,438,592 		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
OMIM		 PMID:32220290 NCBI chr 2:257,911,099...257,997,735
Ensembl chr 2:257,911,126...257,997,733 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        lipid metabolism disorder 904
          Glycosylphosphatidylinositol Deficiency 23
            GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 1
            GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 1
            GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 1
            GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21 1
            Glycosylphosphatidylinositol Biosynthesis Defect 16 2
            Hyperphosphatasia with Mental Retardation Syndrome 5 8
            Mental Retardation, Autosomal Recessive 53 1
            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 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            epilepsy 1505
              Glycosylphosphatidylinositol Deficiency 23
                GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 1
                GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 1
                GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 1
                GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21 1
                Glycosylphosphatidylinositol Biosynthesis Defect 16 2
                Hyperphosphatasia with Mental Retardation Syndrome 5 8
                Mental Retardation, Autosomal Recessive 53 1
                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