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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 17
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Accession:DOID:9009183 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD) with brain imaging showing multiple abnormalities. (OMIM)
Synonyms:exact_synonym: HLD17;   hypomyelinating leukodystrophy-17
 primary_id: OMIM:618006
For additional species annotation, visit the Alliance of Genome Resources.

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Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 ISO OMIM NCBI chr 7:7,418,406...7,433,020
Ensembl chr 7:6,203,329...6,221,202 		JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 ClinVar PMID:25741868 NCBI chr 7:7,382,669...7,418,469
Ensembl chr 7:6,222,187...6,256,252 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13605
    Developmental Disease 10021
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8345
        genetic disease 7901
          Nervous System Heredodegenerative Disorders 1945
            Hereditary Central Nervous System Demyelinating Diseases 43
              hypomyelinating leukodystrophy 27
                Hypomyelinating Leukodystrophy 17 2
Path 2
Term Annotations click to browse term
  disease 13605
    disease of anatomical entity 13266
      nervous system disease 10957
        central nervous system disease 9611
          brain disease 9034
            Metabolic Brain Diseases 554
              Metabolic Brain Diseases, Inborn 489
                Hereditary Central Nervous System Demyelinating Diseases 43
                  hypomyelinating leukodystrophy 27
                    Hypomyelinating Leukodystrophy 17 2
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