monarch-initiative / mondo-ingest

Coordinating the mondo-ingest with external sources
https://monarch-initiative.github.io/mondo-ingest/
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update for change to MIM(PS) prefix in DOID #565

Closed twhetzel closed 2 weeks ago

twhetzel commented 2 weeks ago

Closes #560

Overview

This PR: Updates the SPARQL queries used in the components/doid.owl goal in mondo-ingest.Makefile since the Disease Ontology (DOID) now uses the prefixes MIM and MIM:PS for classes.

<owl:Class rdf:about="http://purl.obolibrary.org/obo/DOID_0070431">
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0060308"/>
        <obo:IAO_0000115 xml:lang="en">An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed.</obo:IAO_0000115>
        <oboInOwl:hasDbXref>MESH:C565495</oboInOwl:hasDbXref>
        **<oboInOwl:hasDbXref>MIM:PS239300</oboInOwl:hasDbXref>**
        <oboInOwl:hasDbXref>ORDO:247262</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SNOMEDCT_US_2023_03_01:33982008</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS_CUI:C1855923</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym xml:lang="en">HPMRS</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">Mabry disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">Mabry syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">hyperphosphatasia with mental retardation syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <oboInOwl:id>DOID:0070431</oboInOwl:id>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/doid#DO_rare_slim"/>
        <rdfs:label xml:lang="en">hyperphosphatasia with impaired intellectual development syndrome</rdfs:label>
        **<skos:exactMatch>MIM:PS239300</skos:exactMatch>**
        <skos:exactMatch>ORDO:247262</skos:exactMatch>
        <skos:exactMatch>UMLS_CUI:C1855923</skos:exactMatch>
    </owl:Class>

Pre-merge checklist

Documentation

Was the documentation added/updated under docs/?

QC

Was the full pipeline run before submitting this PR using sh run.sh make build-mondo-ingest on this branch (after docker pull obolibrary/odkfull:dev), and no errors occurred?

See:

New Packages

Were any new Python packages added?

Were any other non-Python packages added?

PR Review and Conversations Resolved

Has the PR been sufficiently reviewed by at least 1 team member of the Mondo Technical team and all threads resolved?

twhetzel commented 2 weeks ago

Given the successful Build from this code update, making this an Active PR now.