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monarch-initiative
Mondo Disease Ontology
Closes #7826 - Definition - Logical definition - Term tracker - 3 Parents - 2 Children - Several PMIDs and a working group source/dbxref
Following up from the Mondo Outreach call presentation on ClinGen (25-Aug-2023), a request was made to include xrefs from Mondo back to ClinGen to better support users in finding clinical...
Some initial experiments adding an international version of Mondo with translations, but mostly for later this year, not now.
### Mondo term 0014200: Aldosterone-producing adenoma with seizures and neurological abnormalities ### Synonyms Complex neurodevelopmental disorder with or without aldosteronism ### Synonym type None ### Additional comments Please add the...
**Mondo term (ID and Label):** MONDO:0016267 undifferentiated carcinoma of the corpus uteri **Xref that should be fixed (ID and label):** ICD10CM:C50 **Your nano-attribution (ORCID)** If you don't have an ORCID,...
POLR2A-related disorders Synonyms: - Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (OMIM: https://omim.org/entry/618603) - POLR2A-associated neurodevelopmental disabilities (https://www.mdpi.com/2073-4425/13/3/470/review_report) **Definition** Neurodevelopmental disorder with hypotonia and variable intellectual and...
**Mondo term (ID and Label):** SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss **Suggested new label:** AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss **Your nano-attribution...
weiss-kruszka syndrome (MONDO:0032836) Weiss-Kruszka Syndrome The ClinGen Dosage Sensitivity team received a notice of obsoletion for weiss-kruska syndrome due to it being a "duplicate". The notice stated that this MONDO...
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome (MONDO:0014606) In the definition for MONDO:0014606 the word "aggressiveness" was spelled incorrectly: "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by...
Hello MONDOzers, I downloaded the xrefs.tsv file: https://github.com/monarch-initiative/mondo/blob/master/reports/xrefs.tsv and examined the mapping counts between MONDO and ICD9 vs MONDO and ICD10. In this file, there are 5734 mappings between MONDO...
