Disambiguate FICUS syndrome with LSM1-prefixed name#9903
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Disambiguate FICUS syndrome with LSM1-prefixed name#9903dragon-ai-agent wants to merge 2 commits into
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- Renamed MONDO:0978296 from 'FICUS syndrome' to 'LSM1-related facial dysmorphism-impaired intellectual development-cardiovascular-urogenital-skeletal anomalies syndrome' - Added comprehensive definition citing PMID:40204357 and MEDGEN:1876514 - Added 'FICUS syndrome' and 'LSM1-related FICUS syndrome' as synonyms - Added neurodevelopmental disorder (MONDO:0700092) as parent term - Added logical definition following disease_series_by_gene pattern - Resolves confusion with unrelated 'Family Intensive Care Unit Syndrome' (PMID:33344205) Fixes #9902
Automated normalization via GitHub Actions
matentzn
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Jan 27, 2026
| name: FICUS syndrome | ||
| name: LSM1-related facial dysmorphism-impaired intellectual development-cardiovascular-urogenital-skeletal anomalies syndrome | ||
| def: "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the LSM1 gene. This autosomal recessive disorder is characterized by dysmorphic facial features, impaired intellectual development, and multisystem features including cardiovascular, urogenital, skeletal, gastrointestinal, and ophthalmologic abnormalities." [MEDGEN:1876514, PMID:40204357] | ||
| synonym: "facial dysmorphism-impaired intellectual development-cardiovascular-urogenital-skeletal anomalies syndrome" EXACT [MEDGEN:1876514] |
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This is should be related, as this is constitutes a phenotypic definition of the disease rather than an etiological one?
| def: "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the LSM1 gene. This autosomal recessive disorder is characterized by dysmorphic facial features, impaired intellectual development, and multisystem features including cardiovascular, urogenital, skeletal, gastrointestinal, and ophthalmologic abnormalities." [MEDGEN:1876514, PMID:40204357] | ||
| synonym: "facial dysmorphism-impaired intellectual development-cardiovascular-urogenital-skeletal anomalies syndrome" EXACT [MEDGEN:1876514] | ||
| synonym: "FICUS syndrome" EXACT [MEDGEN:1876514, OMIM:621193] | ||
| synonym: "LSM1-related FICUS syndrome" EXACT [PMID:40204357] |
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It sounds weird to have that as a synonym given there is no FICUS syndrome that is NOT LSM1-related but I guess its ok?
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Summary
This PR disambiguates the FICUS syndrome term (MONDO:0978296) by renaming it to follow MONDO's gene-based disease naming conventions.
Changes
Rationale
The acronym 'FICUS' is ambiguous:
The unqualified name 'FICUS syndrome' caused confusion in automated systems (see monarch-initiative/dismech#186 (review)).
The LSM1-prefixed name follows MONDO conventions for gene-based diseases and clearly disambiguates from the unrelated Family ICU Syndrome.
Decision on Family ICU Syndrome
Family ICU Syndrome (PMID:33344205) is NOT being added to MONDO as it falls outside the ontology's scope - it is a psychological/environmental response condition rather than a disease entity suitable for MONDO.
Fixes #9902
cc @cmungall @matentzn