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
Accession: DOID:0080139
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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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:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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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:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
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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:30,014,485...30,037,808
Ensembl chr X:29,992,416...30,037,807
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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:29,956,576...30,001,436
Ensembl chr X:29,956,576...30,001,105
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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:30,227,251...30,290,015
Ensembl chr X:30,227,251...30,289,993
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Car5b
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:30,474,697...30,534,797
Ensembl chr X:30,474,784...30,533,837
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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:30,361,967...30,395,264
Ensembl chr X:30,361,967...30,395,349
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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:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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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:29,420,485...29,472,099
Ensembl chr X:29,420,586...29,462,398
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Piga
phosphatidylinositol glycan anchor biosynthesis, class A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
OMIM CTD ClinVar
PMID:2915993 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:25590979 PMID:25741868 PMID:26467025 PMID:26545172 PMID:27353043 PMID:28133863 PMID:28441409 PMID:28492532 PMID:29159939 PMID:29310717 PMID:29314583 PMID:29656098 PMID:31164858 PMID:31175295 PMID:31618474 PMID:31704190 PMID:32176464 PMID:32220244 PMID:32452540 PMID:32694024 PMID:33333793 PMID:33763700 PMID:34355501 PMID:34782754 More...
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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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:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218
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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:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
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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:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all