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RGD uses the Human Disease Ontology (DO, 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 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
 xref: ORDO:280288

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hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:exon: g.1512A>G(p.D29G)(human)
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4
PMID:18571143 PMID:24033266 PMID:25741868 PMID:27405012 PMID:28492532 More... RGD:12910473 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 ClinVar PMID:29389947 NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        mitochondrial metabolism disease 811
          hypomyelinating leukodystrophy 4 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                Hereditary Central Nervous System Demyelinating Diseases 113
                  hypomyelinating leukodystrophy 61
                    hypomyelinating leukodystrophy 4 2
paths to the root