ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy 4
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Accession:DOID:0060789 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: HLD4;   MITCHAP60 disease;   Pelizaeus-Merzbacher-like disease due to HSPD1 mutation;   mitochondrial HSP60 chaperonopathy
 primary_id: MESH:C567390
 alt_id: OMIM:612233;   RDO:0015475
 xref: ORDO:280288
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hypomyelinating leukodystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:7240710
RGD:11554173
RGD:12910473
RGD:8554872
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        mitochondrial metabolism disease 330
          hypomyelinating leukodystrophy 4 2
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 27
                    hypomyelinating leukodystrophy 4 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.