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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;   MIM: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 chr13:22,173,670...22,321,344
Ensembl chr13:22,176,576...22,321,379 		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 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:16199547 PMID:17576681 PMID:21493957 More... NCBI chr13:22,173,670...22,321,344
Ensembl chr13:22,176,576...22,321,379 		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: 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:33,672,832...33,687,747
Ensembl chr  X:33,674,923...33,687,636 		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 chr 3:173,647,104...173,656,269
Ensembl chr 3:173,641,900...173,656,268 		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 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:27513193 More... NCBI chr10:15,447,080...15,463,088
Ensembl chr10:15,447,081...15,463,088 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    physical disorder 2432
      multiple congenital anomalies-hypotonia-seizures syndrome 4
        multiple congenital anomalies-hypotonia-seizures syndrome 1 1
        multiple congenital anomalies-hypotonia-seizures syndrome 2 1
        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 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        Neurologic Manifestations 5934
          sensory system disease 4800
            eye disease 2086
              visual pathway disease 88
                visual cortex disease 86
                  visual epilepsy 85
                    multiple congenital anomalies-hypotonia-seizures syndrome 4
                      multiple congenital anomalies-hypotonia-seizures syndrome 1 1
                      multiple congenital anomalies-hypotonia-seizures syndrome 2 1
                      multiple congenital anomalies-hypotonia-seizures syndrome 3 1
                      multiple congenital anomalies-hypotonia-seizures syndrome 4 1
paths to the root