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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
Early Infantile 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: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77 OMIM
ClinVar
PMID:9463366, PMID:9729469, PMID:10373468, PMID:11418246, PMID:22265715, PMID:24463883, PMID:24852103, PMID:25558065, PMID:25851949, PMID:27513193, PMID:28492532, PMID:30311386, PMID:31148362 NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
JBrowse link
Early Infantile 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
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 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        lipid metabolism disorder 900
          Glycosylphosphatidylinositol Deficiency 14
            Early Infantile Epileptic Encephalopathy, 77 1
            Early Infantile Epileptic Encephalopathy, 80 3
            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
            Mental Retardation, Autosomal Recessive 53 1
            Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            epilepsy 1528
              Glycosylphosphatidylinositol Deficiency 14
                Early Infantile Epileptic Encephalopathy, 77 1
                Early Infantile Epileptic Encephalopathy, 80 3
                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
                Mental Retardation, Autosomal Recessive 53 1
                Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.