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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
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hypomyelinating leukodystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:7240710
G Snap29 synaptosome associated protein 29 JBrowse link 11 87,827,633 87,858,107 RGD:8554872

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Path 1
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  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal recessive disease 2338
                hypomyelinating leukodystrophy 2 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            Metabolic Brain Diseases 571
              Metabolic Brain Diseases, Inborn 501
                Hereditary Central Nervous System Demyelinating Diseases 41
                  hypomyelinating leukodystrophy 25
                    hypomyelinating leukodystrophy 2 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.