myopathy, lactic acidosis, and sideroblastic anemia 3 - 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:	myopathy, lactic acidosis, and sideroblastic anemia 3	go back to main search page
Accession:	DOID:0111184	browse the term
Definition:	A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. (DO)
Synonyms:	exact_synonym:	MLASA3; mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 3
	primary_id:	OMIM:500011

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Genes (1)

myopathy, lactic acidosis, and sideroblastic anemia 3

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

MT-ATP6

mitochondrially encoded ATP synthase membrane subunit 6

ISO

ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3

ClinVar

PMID:25037980 PMID:27812026 PMID:29350304

NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644

Term paths to the root

Path 1
Term	Annotations
disease	17774
syndrome	10062
myelodysplastic syndrome	239
Refractory Anemia	32
sideroblastic anemia	21
myopathy, lactic acidosis, and sideroblastic anemia	4
myopathy, lactic acidosis, and sideroblastic anemia 3	1
Path 2
Term	Annotations
disease	17774
disease of anatomical entity	15146
Hemic and Lymphatic Diseases	3680
hematopoietic system disease	3187
Hematologic Neoplasms	988
Bone Marrow Neoplasms	476
bone marrow cancer	476
myelodysplastic syndrome	239
Refractory Anemia	32
sideroblastic anemia	21
myopathy, lactic acidosis, and sideroblastic anemia	4
myopathy, lactic acidosis, and sideroblastic anemia 3	1

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RGD DISEASE ONTOLOGY - ANNOTATIONS