MAxO Diagnostic Annotations: Format

The maxo_diagnostic_annotations.tsv file contains six columns separated by tabs (TSV format).

• hpo_id

• hpo_label

• predicate_id: is_observable_through or is_prenatally_observable_through

• maxo_id

• maxo_label

• creator_id

Each row in the table specifies a diagnostic modality that is able to ascertain the HPO term in question. The following table shows a few examples

MAxO Diagnostic Annotations

hpo_id	hpo_label	predicate_id	maxo_id	maxo_label	creator_id
HP:0020197	Increased circulating arachidonic acid concentration	is_observable_through	MAXO:0000787	blood chemistry measurement	ORCID:0000-0002-0736-9199
HP:0003572	Low plasma citrulline	is_observable_through	MAXO:0000787	blood chemistry measurement	ORCID:0000-0002-0736-9199
HP:0500221	Decreased CSF tyrosine concentration	is_observable_through	MAXO:0001169	cerebrospinal fluid specimen collection	ORCID:0000-0002-0736-9199
HP:0032274	Increased CSF N-acetylaspartic acid concentration	is_observable_through	MAXO:0001169	cerebrospinal fluid specimen collection	ORCID:0000-0002-0736-9199
HP:0010777	Bronchomegaly	is_observable_through	MAXO:0001183	bronchoscopy	ORCID:0000-0002-0736-9199
HP:0100628	Esophageal diverticulum	is_observable_through	MAXO:0001200	esophagoscopy	ORCID:0000-0002-0736-9199
HP:0030642	Fundus albipunctatus	is_observable_through	MAXO:0035004	fundoscopy	ORCID:0000-0002-0736-9199