loading...| Preferred Name | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) | |
| Synonyms |
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) MTDPS8B MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED MTDPS8A MNGIE, RRM2B-RELATED MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/612075 |
|
| altLabel |
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) MTDPS8B MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED MTDPS8A MNGIE, RRM2B-RELATED MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE |
|
| cui |
C3150172 C2749862 C2749861 |
|
| Gene Locus |
8q23.1 |
|
| Gene Symbol |
RRM2B MTDPS8A PEOA5 RCDFRD P53R2 MTDPS8B |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU037107 http://purl.bioontology.org/ontology/OMIM/MTHU036555 http://purl.bioontology.org/ontology/OMIM/MTHU010928 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU039191 http://purl.bioontology.org/ontology/OMIM/MTHU036444 http://purl.bioontology.org/ontology/OMIM/MTHU036657 http://purl.bioontology.org/ontology/OMIM/MTHU068876 http://purl.bioontology.org/ontology/OMIM/MTHU026129 http://purl.bioontology.org/ontology/OMIM/MTHU004026 http://purl.bioontology.org/ontology/OMIM/MTHU031226 http://purl.bioontology.org/ontology/OMIM/MTHU039189 http://purl.bioontology.org/ontology/OMIM/MTHU000661 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU039187 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
612075 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) |
|
| Scope Statement |
Caused by mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene (RRM2B, 604712.0001) [MOLECULAR BASIS] Some patients have later onset and more variable phenotype (MNGIE) [MISCELLANEOUS] Onset usually in infancy [MISCELLANEOUS] Death can occur in infancy [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS] |
|
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C536350 | MESH | CUI | |
| http://purl.bioontology.org/ontology/SNOMEDCT/765100000 | SNOMEDCT | CUI | |
| http://purl.bioontology.org/ontology/SCTSPA/765100000 | SCTSPA | CUI |