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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:multiple congenital anomalies-hypotonia-seizures syndrome
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Accession:DOID:0080503 term browser browse the term
Definition:A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. (DO)
Synonyms:xref: GARD:12781;   OMIM:PS614080;   ORDO:280633


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 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		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 IAGP 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 chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G HMSD histocompatibility minor serpin domain containing IAGP 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 chr18:63,949,301...63,969,648
Ensembl chr18:63,949,301...63,981,774 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase IAGP 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 chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228 		JBrowse link
G LOC130062624 ATAC-STARR-seq lymphoblastoid active region 13429 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,187,361...62,187,570 JBrowse link
G LOC130062625 ATAC-STARR-seq lymphoblastoid silent region 9502 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,187,721...62,187,940 JBrowse link
G LOC130062626 ATAC-STARR-seq lymphoblastoid silent region 9503 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,249,595...62,249,644 JBrowse link
G LOC130062627 ATAC-STARR-seq lymphoblastoid silent region 9504 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,324,942...62,325,151 JBrowse link
G LOC130062628 ATAC-STARR-seq lymphoblastoid silent region 9505 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,325,202...62,325,401 JBrowse link
G LOC130062629 ATAC-STARR-seq lymphoblastoid silent region 9506 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,368,285...62,368,434 JBrowse link
G LOC130062630 ATAC-STARR-seq lymphoblastoid active region 13430 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,418,385...62,418,434 JBrowse link
G LOC130062631 ATAC-STARR-seq lymphoblastoid silent region 9507 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,420,709...62,420,758 JBrowse link
G LOC132090496 Neanderthal introgressed variant-containing enhancer experimental_48670 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:24253414 PMID:25640679 PMID:27038415 PMID:28492532 NCBI chr18:62,096,279...62,096,448 JBrowse link
G LOC132090497 Neanderthal introgressed variant-containing enhancer experimental_48690 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:24253414 PMID:27038415 PMID:28492532 PMID:35179230 NCBI chr18:62,105,608...62,105,777 JBrowse link
G LOC132090498 Neanderthal introgressed variant-containing enhancer experimental_48738 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3		 ClinVar PMID:16199547 PMID:24253414 PMID:25741868 PMID:27038415 PMID:28492532 NCBI chr18:62,114,637...62,114,806 JBrowse link
G LOC132090499 Neanderthal introgressed variant-containing enhancer experimental_48746 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,117,761...62,117,930 JBrowse link
G LOC132090500 Neanderthal introgressed variant-containing enhancer experimental_48887 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,227,446...62,227,615 JBrowse link
G LOC132090501 Neanderthal introgressed variant-containing enhancer experimental_48897 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,250,610...62,250,779 JBrowse link
G LOC132090899 Neanderthal introgressed variant-containing enhancer experimental_48726/48728 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,110,934...62,111,103 JBrowse link
G PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 IAGP 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 chr18:62,715,541...62,980,433
Ensembl chr18:62,715,541...62,980,433 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP
EXP		 ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing IAGP 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 chr18:62,187,255...62,310,249
Ensembl chr18:62,187,255...62,310,249 		JBrowse link
G SERPINB10 serpin family B member 10 IAGP 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 chr18:63,907,958...63,936,111
Ensembl chr18:63,907,958...63,936,111 		JBrowse link
G SERPINB11 serpin family B member 11 IAGP 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 chr18:63,702,304...63,723,893
Ensembl chr18:63,647,579...63,726,432 		JBrowse link
G SERPINB12 serpin family B member 12 IAGP 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 chr18:63,519,110...63,569,329
Ensembl chr18:63,542,369...63,569,329 		JBrowse link
G SERPINB13 serpin family B member 13 IAGP 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 chr18:63,587,343...63,599,192
Ensembl chr18:63,586,989...63,604,639 		JBrowse link
G SERPINB2 serpin family B member 2 IAGP 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 chr18:63,887,705...63,903,888
Ensembl chr18:63,871,692...63,903,888 		JBrowse link
G SERPINB3 serpin family B member 3 IAGP 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 chr18:63,655,197...63,661,893
Ensembl chr18:63,655,197...63,661,893 		JBrowse link
G SERPINB4 serpin family B member 4 IAGP 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 chr18:63,637,259...63,644,256
Ensembl chr18:63,637,259...63,644,256 		JBrowse link
G SERPINB5 serpin family B member 5 IAGP 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 chr18:63,476,958...63,505,085
Ensembl chr18:63,476,958...63,505,085 		JBrowse link
G SERPINB7 serpin family B member 7 IAGP 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 chr18:63,753,057...63,805,370
Ensembl chr18:63,752,935...63,805,376 		JBrowse link
G SERPINB8 serpin family B member 8 IAGP 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 chr18:63,970,081...64,019,779
Ensembl chr18:63,970,029...64,019,779 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP 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 chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288 		JBrowse link
G VPS4B vacuolar protein sorting 4 homolog B IAGP 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 chr18:63,389,190...63,422,476
Ensembl chr18:63,389,190...63,422,483 		JBrowse link
G ZCCHC2 zinc finger CCHC-type containing 2 IAGP 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 chr18:62,523,025...62,586,729
Ensembl chr18:62,523,025...62,587,709 		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 ACE2 angiotensin converting enzyme 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G ASB11 ankyrin repeat and SOCS box containing 11 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,281,697...15,315,640
Ensembl chr  X:15,281,697...15,315,640 		JBrowse link
G ASB9 ankyrin repeat and SOCS box containing 9 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,243,987...15,270,467
Ensembl chr  X:15,235,288...15,270,467 		JBrowse link
G BMX BMX non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,500,807...15,556,519
Ensembl chr  X:15,464,246...15,556,529 		JBrowse link
G CA5B carbonic anhydrase 5B IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,738,270...15,788,411
Ensembl chr  X:15,688,830...15,788,411 		JBrowse link
G CLTRN collectrin, amino acid transport regulator IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,627,318...15,675,644
Ensembl chr  X:15,627,318...15,675,012 		JBrowse link
G FANCB FA complementation group B IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G INE2 inactivation escape 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,785,716...15,787,589
Ensembl chr  X:15,785,716...15,787,589 		JBrowse link
G MOSPD2 motile sperm domain containing 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,873,421...14,922,327
Ensembl chr  X:14,873,421...14,922,327 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP
EXP		 ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIR pirin IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,384,799...15,493,333
Ensembl chr  X:15,384,799...15,493,564 		JBrowse link
G VEGFD vascular endothelial growth factor D IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,345,596...15,384,413
Ensembl chr  X:15,345,596...15,384,413 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,790,484...15,823,260
Ensembl chr  X:15,790,156...15,830,694 		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 MIR6812 microRNA 6812 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 ClinVar PMID:28492532 NCBI chr20:45,425,510...45,425,573
Ensembl chr20:45,425,510...45,425,573 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP
EXP		 ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3
ClinVar Annotator: match by term: PIGT-related disorder
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP 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 chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    physical disorder 7158
      multiple congenital anomalies-hypotonia-seizures syndrome 51
        multiple congenital anomalies-hypotonia-seizures syndrome 1 34
        multiple congenital anomalies-hypotonia-seizures syndrome 2 14
        multiple congenital anomalies-hypotonia-seizures syndrome 3 2
        multiple congenital anomalies-hypotonia-seizures syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        Neurologic Manifestations 15470
          sensory system disease 9826
            eye disease 4965
              visual pathway disease 389
                visual cortex disease 386
                  visual epilepsy 386
                    multiple congenital anomalies-hypotonia-seizures syndrome 51
                      multiple congenital anomalies-hypotonia-seizures syndrome 1 34
                      multiple congenital anomalies-hypotonia-seizures syndrome 2 14
                      multiple congenital anomalies-hypotonia-seizures syndrome 3 2
                      multiple congenital anomalies-hypotonia-seizures syndrome 4 1
paths to the root