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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


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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:25741868 PMID:26364997 More... NCBI chr18:55,415,182...55,557,092
Ensembl chr18:58,733,740...58,875,183 		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 chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G HMSD histocompatibility minor serpin domain 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 chr18:57,306,835...57,315,231 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 chr18:56,686,914...56,727,681
Ensembl chr18:60,001,637...60,036,292 		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 chr18:56,084,851...56,338,551 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:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chr18:55,415,182...55,557,092
Ensembl chr18:58,733,740...58,875,183 		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 chr18:55,557,276...55,677,161
Ensembl chr18:58,875,013...58,995,036 		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 chr18:57,262,514...57,289,744
Ensembl chr18:60,573,580...60,599,697 		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 chr18:57,061,477...57,083,031
Ensembl chr18:60,373,142...60,394,132 		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 chr18:56,915,588...56,926,603
Ensembl chr18:60,190,661...60,240,704 		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 chr18:56,946,828...56,958,702
Ensembl chr18:60,258,085...60,270,607 		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 chr18:57,242,498...57,258,676
Ensembl chr18:60,553,323...60,569,594 		JBrowse link
G SERPINB4 serpin family B member 4 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 chr18:56,996,437...57,003,489 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 chr18:56,836,403...56,864,533
Ensembl chr18:60,148,552...60,176,624 		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 chr18:57,112,242...57,164,213
Ensembl chr18:60,445,135...60,475,165 		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 chr18:57,313,562...57,373,502
Ensembl chr18:60,634,206...60,669,118 		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 chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044 		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 chr18:56,749,439...56,782,660
Ensembl chr18:60,060,285...60,095,109 		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 chr18:55,893,099...55,948,648
Ensembl chr18:59,209,993...59,265,634 		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 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,189,267...8,229,415
Ensembl chr  X:15,470,896...15,510,891 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,449,885...8,478,932
Ensembl chr  X:15,807,476...15,836,172 		JBrowse link
G ASB11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:7,909,843...7,942,277
Ensembl chr  X:15,192,234...15,225,022 		JBrowse link
G ASB9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:7,869,174...7,896,783
Ensembl chr  X:15,152,698...15,179,182 		JBrowse link
G BMX BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,129,158...8,184,910
Ensembl chr  X:15,410,655...15,466,415 		JBrowse link
G CA5B carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,325,881...8,410,506
Ensembl chr  X:15,658,816...15,764,323
Ensembl chr  X:15,658,816...15,764,323 		JBrowse link
G CLTRN collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,255,666...8,293,354
Ensembl chr  X:15,535,069...15,575,268 		JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:7,470,574...7,500,958
Ensembl chr  X:14,752,934...14,781,817 		JBrowse link
G MOSPD2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:7,501,222...7,549,523
Ensembl chr  X:14,785,436...14,828,978 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | 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:7,946,158...7,962,320
Ensembl chr  X:15,228,881...15,244,949 		JBrowse link
G PIR pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,011,382...8,121,994
Ensembl chr  X:15,294,099...15,404,004 		JBrowse link
G VEGFD vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:7,972,227...8,011,263
Ensembl chr  X:15,254,945...15,293,704 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:8,413,483...8,447,340
Ensembl chr  X:15,772,064...15,804,913 		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:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr20:41,749,034...41,759,131
Ensembl chr20:42,838,789...42,870,907 		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 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... Ensembl chr16:585,901...600,482 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      multiple congenital anomalies-hypotonia-seizures syndrome 33
        multiple congenital anomalies-hypotonia-seizures syndrome 1 18
        multiple congenital anomalies-hypotonia-seizures syndrome 2 13
        multiple congenital anomalies-hypotonia-seizures syndrome 3 1
        multiple congenital anomalies-hypotonia-seizures syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              visual pathway disease 332
                visual cortex disease 329
                  visual epilepsy 329
                    multiple congenital anomalies-hypotonia-seizures syndrome 33
                      multiple congenital anomalies-hypotonia-seizures syndrome 1 18
                      multiple congenital anomalies-hypotonia-seizures syndrome 2 13
                      multiple congenital anomalies-hypotonia-seizures syndrome 3 1
                      multiple congenital anomalies-hypotonia-seizures syndrome 4 1
paths to the root