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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:Megalencephalic Leukoencephalopathy with Subcortical Cysts 4
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Accession:DOID:9005247 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by macrocephaly in infancy associated with developmental delay, delayed walking, variable cognitive decline, behavioral abnormalities, and early-onset seizures. Caused by homozygous mutation in the AQP4 gene on chromosome 18q11.
Synonyms:exact_synonym: MLC4;   Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
 primary_id: OMIM:620448



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Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting OMIM
ClinVar
PMID:25741868 PMID:37143309 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease of cellular proliferation 7671
      Cysts 299
        megalencephalic leukoencephalopathy with subcortical cysts 4
          Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        central nervous system disease 12366
          brain disease 11603
            Metabolic Brain Diseases 1456
              Metabolic Brain Diseases, Inborn 1324
                Hereditary Central Nervous System Demyelinating Diseases 112
                  megalencephalic leukoencephalopathy with subcortical cysts 4
                    Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 1
paths to the root