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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 ClinVar Annotator: match by OMIM:608804
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human)
DNA:snp:5' utr:c.-167A>G (human)
DNA:missense mutation:cds:p.M282T (mouse)
DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human)
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2
OMIM
ClinVar
CTD
PMID:8733901 PMID:15192806 PMID:16969684 PMID:17031678 PMID:17344063 PMID:18094336 PMID:18571143 PMID:20695017 PMID:21246605 PMID:21959080 PMID:22351697 PMID:22669416 PMID:22833003 PMID:23142375 PMID:24374284 PMID:25326635 PMID:25741868 PMID:26354221 PMID:27057822 PMID:27780564 PMID:28492532 PMID:29276893 PMID:29389947 PMID:32488064, PMID:15192806, PMID:21959080, PMID:21750683, PMID:16707726, PMID:18094336 RGD:13208525, RGD:13208526, RGD:13208533, RGD:13208580, RGD:13208581 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                hypomyelinating leukodystrophy 2 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 506
                Hereditary Central Nervous System Demyelinating Diseases 42
                  hypomyelinating leukodystrophy 26
                    hypomyelinating leukodystrophy 2 2
paths to the root