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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:0070404 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. (DO)
Synonyms:exact_synonym: HLD17;   Leukodystrophy, hypomyelinating, 17
 broad_synonym: AIMP2-related condition
 alt_id: DOID:9009183
 xref: MIM:618006;   MONDO:0054817


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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: AIMP2-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29215095 NCBI chr12:15,814,854...15,824,432
Ensembl chr12:15,814,878...15,824,431 		JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: AIMP2-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:15,824,431...15,858,266
Ensembl chr12:15,825,124...15,858,281 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                hypomyelinating leukodystrophy 17 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            Metabolic Brain Diseases 1519
              Metabolic Brain Diseases, Inborn 1388
                Hereditary Central Nervous System Demyelinating Diseases 114
                  hypomyelinating leukodystrophy 59
                    hypomyelinating leukodystrophy 17 2
paths to the root