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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 OMIM NCBI chr10:12,529,021...12,568,447
Ensembl chr10:12,557,766...12,569,008
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    Developmental Diseases 8989
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7861
        genetic disease 7410
          monogenic disease 5450
            autosomal genetic disease 4651
              autosomal recessive disease 2546
                Hypomyelinating Leukodystrophy 18 1
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9972
        central nervous system disease 8426
          brain disease 7782
            Metabolic Brain Diseases 554
              Metabolic Brain Diseases, Inborn 490
                Hereditary Central Nervous System Demyelinating Diseases 43
                  hypomyelinating leukodystrophy 26
                    Hypomyelinating Leukodystrophy 18 1
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