loading...| Preferred Name |
STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL |
| Synonyms |
BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL |
| ID |
http://purl.bioontology.org/ontology/OMIM/500003 |
| altLabel |
BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL INFANTILE BILATERAL STRIATAL NECROSIS, MITOCHONDRIAL |
| cui |
C1839022 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU036949 http://purl.bioontology.org/ontology/OMIM/MTHU006773 http://purl.bioontology.org/ontology/OMIM/MTHU001140 http://purl.bioontology.org/ontology/OMIM/MTHU006774 http://purl.bioontology.org/ontology/OMIM/MTHU006772 http://purl.bioontology.org/ontology/OMIM/MTHU000657 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
500003 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL |
| Scope Statement |
Onset in infancy [MISCELLANEOUS] Caused by mutation in the mitochondrial-encoded ATP synthase 6 gene (MTATP6, 516060.0005) [MOLECULAR BASIS] Genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) [MISCELLANEOUS] |
| tui |
T047 |