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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
 xref: ORDO:280282

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hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 ClinVar PMID:8900227 PMID:10699052 PMID:11854167 PMID:15505393 PMID:16602100 More... NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758 		JBrowse link
G Gjc2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 OMIM
ClinVar		 PMID:8733901 PMID:15192806 PMID:16969684 PMID:17031678 PMID:17344063 More... NCBI chrNW_004936864:67,608...71,543
Ensembl chrNW_004936864:69,445...70,752 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 ClinVar PMID:15968592 PMID:21073448 PMID:25356970 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936619:2,377,284...2,402,049
Ensembl chrNW_004936619:2,376,815...2,401,967 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal recessive disease 6218
                hypomyelinating leukodystrophy 2 3
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            Metabolic Brain Diseases 1390
              Metabolic Brain Diseases, Inborn 1272
                Hereditary Central Nervous System Demyelinating Diseases 116
                  hypomyelinating leukodystrophy 64
                    hypomyelinating leukodystrophy 2 3
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