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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 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 17
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17
ClinVar
OMIM
PMID:25741868 PMID:29215095 NCBI chr 7:6,009,272...6,023,834
Ensembl chr 7:6,009,255...6,023,834
JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 ClinVar PMID:25741868 NCBI chr 7:6,022,247...6,059,175
Ensembl chr 7:6,022,247...6,059,175
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19890
    Developmental Disease 13316
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10559
        genetic disease 10042
          Nervous System Heredodegenerative Disorders 2304
            Hereditary Central Nervous System Demyelinating Diseases 47
              hypomyelinating leukodystrophy 28
                Hypomyelinating Leukodystrophy 17 2
Path 2
Term Annotations click to browse term
  disease 19890
    disease of anatomical entity 18505
      nervous system disease 14498
        central nervous system disease 12743
          brain disease 11986
            Metabolic Brain Diseases 652
              Metabolic Brain Diseases, Inborn 580
                Hereditary Central Nervous System Demyelinating Diseases 47
                  hypomyelinating leukodystrophy 28
                    Hypomyelinating Leukodystrophy 17 2
paths to the root