Mitochondrial Dna Depletion Syndrome 12B
Disease ID: disease_node_16821
Connections displayed (default: 10).
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| Dbxref | GARD:1142, MIM:615418, NCI:C129977, ORDO:1369 |
|---|---|
| Subclassof | DOID_0070329, DOID_0050737 |
| Data Source | DOID |
| Doid Label | mitochondrial DNA depletion syndrome 12b |
| Doid Description | A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16821 |
| Doid Id | DOID_0080335 |
| Label | Mitochondrial Dna Depletion Syndrome 12B |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Dna Depletion Syndrome(ID:disease_node_16818) (Disease)