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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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 17
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17
ClinVar
OMIM
PMID:25741868 PMID:29215095 NCBI chr 5:143,902,704...143,909,839
Ensembl chr 5:143,902,704...143,909,847
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 5:143,817,792...143,902,717
Ensembl chr 5:143,817,788...143,904,251
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14265
    Developmental Disease 10434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8723
        genetic disease 8269
          Nervous System Heredodegenerative Disorders 2002
            Hereditary Central Nervous System Demyelinating Diseases 44
              hypomyelinating leukodystrophy 26
                Hypomyelinating Leukodystrophy 17 2
Path 2
Term Annotations click to browse term
  disease 14265
    disease of anatomical entity 13871
      nervous system disease 11380
        central nervous system disease 9940
          brain disease 9333
            Metabolic Brain Diseases 602
              Metabolic Brain Diseases, Inborn 533
                Hereditary Central Nervous System Demyelinating Diseases 44
                  hypomyelinating leukodystrophy 26
                    Hypomyelinating Leukodystrophy 17 2
paths to the root