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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 2
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Accession:DOID:0060787 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: HLD2;   PMLD1;   Pelizaeus-Merzbacher-Like disease, 1;   Pelizaeus-Merzbacher-like disease due to GJC2 mutation
 primary_id: MESH:C563855
 alt_id: OMIM:608804;   RDO:0013005
 xref: ORDO:280282
For additional species annotation, visit the Alliance of Genome Resources.


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hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein gamma 2 ISO OMIM NCBI chrNW_004955581:291,537...294,752 JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chrNW_004955442:19,419,381...19,446,782
Ensembl chrNW_004955442:19,419,821...19,446,665
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11876
    Developmental Diseases 8481
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7457
        genetic disease 7032
          monogenic disease 5205
            autosomal genetic disease 4492
              autosomal recessive disease 2475
                hypomyelinating leukodystrophy 2 2
Path 2
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        central nervous system disease 7910
          brain disease 7304
            Metabolic Brain Diseases 520
              Metabolic Brain Diseases, Inborn 456
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 24
                    hypomyelinating leukodystrophy 2 2
paths to the root