Structure of a MAxO Annotation
The MAxO annotation model includes disease ID and label using the MONDO ontology, the MAxO term id and label, and a Human Phenotype Ontology (HPO) term that represents the target of the treatment. If the treatment targets the disease itself rather than specific manifestations of the disease, this is indicated by the symbol DISEASE.TREATMENT. Finally, two fields for an extension ID and label can be used to specify additional information about a treatment. For instance, in the example, the MAxO term serotonin-norepinephrine reuptake inhibitor agent therapy is further specified with the ChEBI term for fluoxetine, which is a specific type of serotonin-norepinephrine reuptake inhibitor. Lastly, an additional field is available for comments. In the example provided in Table 2, fluoxetine, a treatment commonly used for one type of congenital myasthenic syndrome (slow-channel congenital myasthenic syndrome, CMS 1A/2A/3A/4A), may worsen symptoms of fatigable weakness if administered to patients with a different type of congenital myasthenic syndrome caused by defects in the same gene, fast-channel CMS (CMS 1B/2B/4B). Fluoxetine is a common treatment for depression that may mistakenly be administered to patients affected by fast-channel CMS without understanding the need for its avoidance. The two MAxO entries listed in Table 2 are linked to the specific CMS subtypes involved and can thus indicate the precise diseases for which fluoxetine is an appropriate treatment (example 1) and in which it should be avoided, i.e., the treatment is contraindicated.
Field |
Example 1 |
Example 2 |
|---|---|---|
Disease ID |
MONDO:0011600 |
MONDO:0014586 |
Disease Name |
congenital myasthenic syndrome 4A |
congenital myasthenic syndrome 4B |
MAxO ID |
MAXO:0000214 |
MAXO:0000214 |
MAxO label |
serotonin-norepinephrine reuptake inhibitor agent therapy |
serotonin-norepinephrine reuptake inhibitor agent therapy |
Relation |
treats |
contraindicated |
HPO id |
HP:0003473 |
HP:0003473 |
HPO label |
Fatigable muscle weakness |
Fatigable muscle weakness |
Evidence code |
ECO:0006016 (author statement from published clinical study) |
ECO:0006016 (author statement from published clinical study) |
Extension id |
CHEBI:5118 |
CHEBI:5118 |
Extension label |
fluoxetine |
fluoxetine |
Source |
PMID:29395675 |
PMID:29367459 |
Curated by |
orcid:0000-0002-9353-5498 |
orcid:0000-0002-6889-0121 |
Comment |
Fluoxetine is a serotonin-norepinephrine reuptake inhibitor […]. |
Fluoxetine use in patients with fast-channel CMS […]. |
Note that the ontology extension field is mainly needed for pharmaceutical annotations. MAxO contains terms for medication categories (e.g., beta blocker) and not for specific medications (e.g. propranolol), and if the specific medication is relevant for an annotation, the extension field can be used. POET supports annotation with ChEBI terms.