Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:multiple congenital anomalies-hypotonia-seizures syndrome
go back to main search page
Accession:DOID:0080503 term browser browse the term
Definition:A lipid metabolism disorder that is characterized by phosphatidylinositol glycan anchor biosynthesis class A (PIGA) deficiency. (DO)
Synonyms:xref: OMIM:PS614080
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:26394714 PMID:27038415 More... NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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 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
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
JBrowse link
G Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,308,532...22,530,978
Ensembl chr13:22,308,548...22,530,977
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 PMID:18606301 More... NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
JBrowse link
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807
JBrowse link
G Serpinb10 serpin family B member 10 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,553,348...23,571,182
Ensembl chr13:23,553,430...23,571,182
JBrowse link
G Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,304,775...23,344,604
Ensembl chr13:23,304,456...23,344,604
JBrowse link
G Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,052,448...23,083,691
Ensembl chr13:23,052,448...23,083,691
JBrowse link
G Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,118,584...23,150,760
Ensembl chr13:23,118,584...23,150,760
JBrowse link
G Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
JBrowse link
G Serpinb3 serpin family B member 3 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,274,120...23,280,082
Ensembl chr13:23,274,484...23,313,682
JBrowse link
G Serpinb3a serpin family B member 3A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,241,303...23,246,328
Ensembl chr13:23,236,972...23,246,985
JBrowse link
G Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756
JBrowse link
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
JBrowse link
G Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,626,945...23,650,270
Ensembl chr13:23,626,945...23,650,835
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
JBrowse link
G Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,907,105...22,932,200
Ensembl chr13:22,907,109...22,932,229
JBrowse link
G Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,118,677...22,193,626
Ensembl chr13:22,119,568...22,166,373
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar
PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar
PMID:16199547 PMID:23636107 PMID:24906948 PMID:25741868 PMID:25943031 More... NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    physical disorder 4327
      multiple congenital anomalies-hypotonia-seizures syndrome 21
        developmental and epileptic encephalopathy 77 1
        multiple congenital anomalies-hypotonia-seizures syndrome 1 18
        multiple congenital anomalies-hypotonia-seizures syndrome 2 1
        multiple congenital anomalies-hypotonia-seizures syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        sensory system disease 6520
          eye disease 3004
            visual pathway disease 629
              visual cortex disease 626
                visual epilepsy 626
                  multiple congenital anomalies-hypotonia-seizures syndrome 21
                    developmental and epileptic encephalopathy 77 1
                    multiple congenital anomalies-hypotonia-seizures syndrome 1 18
                    multiple congenital anomalies-hypotonia-seizures syndrome 2 1
                    multiple congenital anomalies-hypotonia-seizures syndrome 3 1
paths to the root