MAxO Annotations: Format
The maxo_annotations.tsv file contains 14 columns separated by tabs (TSV format).
disease_id
disease_name
citation
maxo_id
maxo_label
hpo_id
maxo_relation
evidence_code
extension_id
extension_label
attribute
creator
last_update
created_on
Each row in the table specifies a medical action for the management of a specific clinical feature (HPO term) in the context of a specific disease. In some cases, the medical action can be said to treat the entire disease, in which case the disease_id (a Mondo term) is used instead of an HPO term.
The format of the attribute column is inspired by GTF format.
It contains a semicolon-separated list of tag-value pairs, providing additional information about each annotation.
Currently, the only attribute is comment, but we anticipate adding additional attributes to represent data such
as variant-specific treatments in the future.
disease_id |
disease_name |
citation |
maxo_id |
maxo_label |
hpo_id |
maxo_relation |
evidence_code |
extension_id |
extension_label |
attribute |
creator |
last_update |
created_on |
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MONDO:0008854 |
Bardet-biedl Syndrome 1 |
PMID:20301537 |
MAXO:0000088 |
dietary intervention |
HP:0000819 |
TREATS |
TAS |
ORCID:0000-0001-7941-2961 |
2023-01-31 |
2022-01-06 |
||||
MONDO:0010156 |
Spastic Paraplegia 20 |
Autosomal Recessive |
PMID:20301556 |
MAXO:0000324 |
skeletal muscle relaxant agent therapy |
HP:0002061 |
TREATS |
TAS |
ORCID:0000-0002-4142-7153 |
2022-06-28 |
2022-02-28 |
|||
MONDO:0016862 |
Alagille Syndrome 1 |
PMID:20301450 |
MAXO:0001175 |
liver transplantation |
HP:0001399 |
TREATS |
TAS |
ORCID:0000-0001-5208-3432 |
2022-05-10 |
2022-05-06 |
||||
MONDO:0010200 |
Wilson Disease |
PMID:20301685 |
MAXO:0001224 |
copper chelator agent therapy |
HP:0010838 |
TREATS |
TAS |
ORCID:0000-0002-4142-7153 |
2022-06-28 |
2022-06-06 |
||||
MONDO:0009733 |
Nephrotic Syndrome |
Type 4 |
PMID:32352694 |
MAXO:0000652 |
ACE inhibitor therapy |
HP:0000097 |
TREATS |
TAS |
ORCID:0000-0002-4142-7153 |
2023-02-11 |
2022-06-07 |
|||
MONDO:0008234 |
Multiple Endocrine Neoplasia |
Type Iia |
PMID:20301434 |
MAXO:0000429 |
external beam radiation therapy |
HP:0002865 |
TREATS |
TAS |
ORCID:0000-0001-5208-3432 |
2023-02-07 |
2022-06-30 |
|||
MONDO:0011399 |
Alpha-thalassemia |
PMID:20301608 |
MAXO:0000747 |
hematopoietic stem cell transplantation |
MONDO:0011399 |
TREATS |
TAS |
ORCID:0000-0002-0736-9199 |
2022-11-06 |
2022-11-06 |
||||
MONDO:0010421 |
Agammaglobulinemia |
X-linked |
PMID:26909497 |
MAXO:0000061 |
antibacterial agent therapy |
HP:0002090 |
PREVENTS |
TAS |
comment: “cotrimoxazole prophylaxis” |
ORCID:0000-0001-9969-9517 |
2023-03-16 |
2023-03-15 |