Melas Syndrome
Disease ID: disease_node_9106
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E88.41, MESH:D017241, MIM:540000, NCI:C84885, SNOMEDCT_US_2023_03_01:39925003, UMLS_CUI:C0162671 |
|---|---|
| Subclassof | DOID_890 |
| Data Source | DOID, MESH |
| Synonyms | MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES |
| Mesh Id | D017241 |
| Mesh Label | MELAS Syndrome |
| Mesh Subclassof | D020739, D017237, D059345 |
| Doid Label | MELAS syndrome |
| Doid Description | A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000293, SYMP_0000124, SYMP_0000329, SYMP_0000504, SYMP_0000130 |
| Disease Node Id | disease_node_9106 |
| Doid Id | DOID_3687 |
| Label | Melas Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Motor Weakness(ID:disease_node_21058) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Hemiparesis(ID:disease_node_21425) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Seizure(ID:disease_node_21382) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Headache(ID:disease_node_3686;disease_node_21324) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Severe Headache(ID:disease_node_21325) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Encephalomyopathies(ID:disease_node_9098) (Disease)