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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 chr25:5,589,530...5,603,261
Ensembl chr25:5,589,383...5,603,227 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    Developmental Disease 13512
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12674
        genetic disease 12376
          monogenic disease 10617
            autosomal genetic disease 10175
              autosomal recessive disease 6978
                hypomyelinating leukodystrophy 18 1
Path 2
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      nervous system disease 13232
        central nervous system disease 11823
          brain disease 11092
            Metabolic Brain Diseases 1490
              Metabolic Brain Diseases, Inborn 1357
                Hereditary Central Nervous System Demyelinating Diseases 127
                  hypomyelinating leukodystrophy 71
                    hypomyelinating leukodystrophy 18 1
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