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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 2
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Accession:DOID:0080139 term browser browse the term
Definition:A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: DEE20;   EIEE20;   GPIBD4;   MCAHS2;   developmental and epileptic encephalopathy 20;   early infantile epileptic encephalopathy 20;   glycosylphosphatidylinositol biosynthesis defect 4
 primary_id: OMIM:300868
 alt_id: DOID:0080466
 xref: GARD:12777;   ORDO:300496
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:300868
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
OMIM
ClinVar
PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:9536098 PMID:10087994 PMID:15307104 PMID:17576681 PMID:19377476 PMID:22305531 PMID:24259184 PMID:24259288 PMID:24357517 PMID:24706016 PMID:24759409 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26545172 PMID:28441409 PMID:28492532 PMID:29310717 PMID:29656098 PMID:32220244 NCBI chr  X:31,786,823...31,799,751
Ensembl chr  X:31,786,194...31,799,560
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      multiple congenital anomalies-hypotonia-seizures syndrome 6
        multiple congenital anomalies-hypotonia-seizures syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 0
        sensory system disease 5584
          eye disease 2725
            visual pathway disease 797
              visual cortex disease 795
                visual epilepsy 795
                  multiple congenital anomalies-hypotonia-seizures syndrome 6
                    multiple congenital anomalies-hypotonia-seizures syndrome 2 1
paths to the root