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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 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon: g.1512A>G(p.D29G)(human)
OMIM
ClinVar
CTD
PMID:18571143, PMID:25741868, PMID:27405012, PMID:18571143 RGD:12910473 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        mitochondrial metabolism disease 345
          hypomyelinating leukodystrophy 4 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 505
                Hereditary Central Nervous System Demyelinating Diseases 42
                  hypomyelinating leukodystrophy 26
                    hypomyelinating leukodystrophy 4 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.