hypomyelinating leukodystrophy 4 - Ontology Report

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	go back to main search page
Accession:	DOID:0060789	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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Genes (2)

hypomyelinating leukodystrophy 4

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

OMIM
CTD
ClinVar
RGD

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

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

Term paths to the root

Path 1
Term	Annotations
disease	18969
Nutritional and Metabolic Diseases	8246
disease of metabolism	8246
mitochondrial metabolism disease	812
hypomyelinating leukodystrophy 4	2
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
nervous system disease	14091
central nervous system disease	12432
brain disease	11669
Metabolic Brain Diseases	1490
Metabolic Brain Diseases, Inborn	1358
Hereditary Central Nervous System Demyelinating Diseases	114
hypomyelinating leukodystrophy	62
hypomyelinating leukodystrophy 4	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS