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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 4
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Accession:DOID:0112213 term browser browse the term
Definition:A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. (DO)
Synonyms:exact_synonym: DEE77;   EIEE77;   GPIBD19;   MCAHS4;   PIGQ-RELATED CONDITION;   developmental and epileptic encephalopathy 77;   early infantile epileptic encephalopathy 77;   glycosylphosphatidylinositol biosynthesis defect 19
 primary_id: MIM:618548


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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 chr10:14,942,571...14,958,584
Ensembl chr10:15,447,081...15,463,088 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      multiple congenital anomalies-hypotonia-seizures syndrome 33
        multiple congenital anomalies-hypotonia-seizures syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              visual pathway disease 201
                visual cortex disease 198
                  visual epilepsy 197
                    multiple congenital anomalies-hypotonia-seizures syndrome 33
                      multiple congenital anomalies-hypotonia-seizures syndrome 4 1
paths to the root