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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:hypomyelinating leukodystrophy 18
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Accession:DOID:0070399 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: DEGS1-RELATED CONDITION;   HLD18
 primary_id: MIM:618404
 alt_id: DOID:9000521


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hypomyelinating leukodystrophy 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Degs1 delta(4)-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: DEGS1-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30620337 PMID:30620338 PMID:31186544 NCBI chr13:93,946,154...93,953,677
Ensembl chr13:93,946,157...93,953,664 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    Developmental Disease 14670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10966
            autosomal genetic disease 10454
              autosomal recessive disease 7129
                hypomyelinating leukodystrophy 18 1
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        central nervous system disease 12645
          brain disease 11865
            Metabolic Brain Diseases 1515
              Metabolic Brain Diseases, Inborn 1380
                Hereditary Central Nervous System Demyelinating Diseases 115
                  hypomyelinating leukodystrophy 60
                    hypomyelinating leukodystrophy 18 1
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