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.
A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. (DO)
Synonyms:
exact_synonym:
MNGIE Disease; MTDPS8A; Mitochondrial Neurogastrointestinal Encephalopathy Disease; Mitochondrial Neurogastrointestinal Encephalopathy Syndrome; Mngie Without Leukoencephalopathy; RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy; mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy, autosomal recessive; mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction; oculogastrointestinal muscular dystrophy; polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction; polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction; thymidine phosphorylase deficiency
narrow_synonym:
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE; MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE); MNGIE, RRM2B-RELATED; NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL
ClinVar Annotator: match by term: RRM2B-related mitochondrial disease ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy ClinVar Annotator: match by OMIM:612075
ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
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