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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 3
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Accession:DOID:0060790 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. (DO)
Synonyms:exact_synonym: HLD3;   Pelizaeus-Merzbacher-like Disease, Autosomal Recessive, 2;   Pelizaeus-Merzbacher-like disease due to AIMP1 mutation;   Perinatal Sudanophilic leukodystrophy
 primary_id: MESH:C536319
 alt_id: OMIM:260600
 xref: ORDO:280293


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hypomyelinating leukodystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3		 OMIM
CTD
ClinVar		 PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 More... NCBI chr 2:221,151,907...221,175,458
Ensembl chr 2:221,151,904...221,175,728 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                hypomyelinating leukodystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                Hereditary Central Nervous System Demyelinating Diseases 113
                  hypomyelinating leukodystrophy 61
                    hypomyelinating leukodystrophy 3 1
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