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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 1
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Accession:DOID:0080138 term browser browse the term
Definition:A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21. (DO)
Synonyms:exact_synonym: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3;   GPIBD3;   MCAHS1
 primary_id: OMIM:614080
 alt_id: RDO:9000575
 xref: NCI:C176896
For additional species annotation, visit the Alliance of Genome Resources.


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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: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar Annotator: match by OMIM:614080
OMIM
ClinVar
PMID:21493957 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 PMID:26394714 PMID:26419326 PMID:26467025 PMID:26539891 PMID:26633542 PMID:26879448 PMID:26964041 PMID:27038415 PMID:28273706 PMID:28327575 PMID:28492532 PMID:29096607 PMID:29330547 PMID:32860008 NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473
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:28492532 NCBI chr13:25,656,983...25,752,792
Ensembl chr13:25,656,983...25,752,792
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      multiple congenital anomalies-hypotonia-seizures syndrome 6
        multiple congenital anomalies-hypotonia-seizures syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          eye disease 2673
            visual pathway disease 872
              visual cortex disease 870
                visual epilepsy 870
                  multiple congenital anomalies-hypotonia-seizures syndrome 6
                    multiple congenital anomalies-hypotonia-seizures syndrome 1 3
paths to the root