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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:9000521 term browser browse the term
Definition:Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum. HLD18 is caused by homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42. (OMIM)
Synonyms:exact_synonym: HLD18
 primary_id: OMIM:618404
For additional species annotation, visit the Alliance of Genome Resources.

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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: LEUKODYSTROPHY, HYPOMYELINATING, 18 OMIM
ClinVar		 PMID:25741868 PMID:30620337 PMID:30620338 PMID:31186544 NCBI chr13:100,665,265...100,672,731
Ensembl chr13:100,666,075...100,672,731 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                Hypomyelinating Leukodystrophy 18 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          brain disease 8367
            Metabolic Brain Diseases 579
              Metabolic Brain Diseases, Inborn 509
                Hereditary Central Nervous System Demyelinating Diseases 41
                  hypomyelinating leukodystrophy 25
                    Hypomyelinating Leukodystrophy 18 1
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