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General Information
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| Term |
mitochondrial DNA depletion syndrome 6 |
ID (Ontology) |
DOID:0080125 (Human Disease) |
| Definition |
A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23. |
| Also Known As |
"MPV17-related hepatocerebral mitochondrial DNA depletion syndrome" ; "Navajo neurohepatopathy" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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mitochondrial DNA depletion syndrome 6 | 2 | 1 | 1 | for disease ribbon | mitochondrial DNA depletion syndrome 6 | -- | 1 | -- | model of | mitochondrial DNA depletion syndrome 6 | 2 | 1 | -- |
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Relationships