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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


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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 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:12,099,849...12,152,204
Ensembl chr  X:12,093,242...12,151,286 		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:12,367,785...12,397,672
Ensembl chr  X:12,367,795...12,397,677 		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:11,842,855...11,871,040
Ensembl chr  X:11,842,855...11,868,793 		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:11,800,546...11,828,251
Ensembl chr  X:11,799,636...11,828,000 		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:12,044,110...12,096,042
Ensembl chr  X:12,044,386...12,096,039 		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:12,295,393...12,332,283
Ensembl chr  X:12,224,159...12,365,025 		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:12,183,793...12,215,474
Ensembl chr  X:12,183,796...12,224,964 		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:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		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:11,409,157...11,473,969
Ensembl chr  X:11,409,107...11,473,964 		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:11,871,746...11,886,519
Ensembl chr  X:11,871,750...11,886,438 		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:11,934,157...12,034,629
Ensembl chr  X:11,934,163...12,033,746 		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:11,893,254...11,933,923
Ensembl chr  X:11,893,259...11,933,809 		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:12,336,635...12,365,071
Ensembl chr  X:12,336,677...12,367,227 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      multiple congenital anomalies-hypotonia-seizures syndrome 32
        multiple congenital anomalies-hypotonia-seizures syndrome 2 13
Path 2
Term Annotations click to browse term
  disease 17415
    Pathological Conditions, Signs and Symptoms 11801
      Signs and Symptoms 9739
        Neurologic Manifestations 9419
          sensory system disease 6506
            eye disease 3323
              visual pathway disease 330
                visual cortex disease 327
                  visual epilepsy 327
                    multiple congenital anomalies-hypotonia-seizures syndrome 32
                      multiple congenital anomalies-hypotonia-seizures syndrome 2 13
paths to the root