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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
OMIM
PMID:29215095 NCBI chr12:12,738,784...12,748,345
Ensembl chr12:12,738,812...12,748,345
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          Nervous System Heredodegenerative Disorders 1915
            Hereditary Central Nervous System Demyelinating Diseases 41
              hypomyelinating leukodystrophy 25
                Hypomyelinating Leukodystrophy 17 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            Metabolic Brain Diseases 579
              Metabolic Brain Diseases, Inborn 509
                Hereditary Central Nervous System Demyelinating Diseases 41
                  hypomyelinating leukodystrophy 25
                    Hypomyelinating Leukodystrophy 17 1
paths to the root