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monarch-initiative
Mondo Disease Ontology
**Mondo term (ID and Label)** MONDO:0042915 Schmitt-Gillenwater-Kelly syndrome **Reason for deprecation** SNOMED CT 716092007 uses "Schmitt Gillenwater Kelly syndrome" and "Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema...
**Mondo term (ID and Label)** 'gestational trophoblastic disease' **Reason for deprecation** Grouping class that is no longer needed **Suggested term to consider** MONDO:0018944 'gestational trophoblastic neoplasm' MONDO:0006248 'hydatidiform mole'
**Mondo term (ID and Label):** http://purl.obolibrary.org/obo/MONDO_0008996 COACH syndrome 1 **Xref that should be fixed (ID and label):** It looks like most (maybe all) of the x-ref which are not omim...
Let's build out the respective parts of Mondo according to An international classification of inherited metabolic disorders (ICIMD) https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12348 There is a supplemental file we can work with.
**Mondo term (ID Label)** https://www.ebi.ac.uk/ols/ontologies/mondo/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0005249 Pneumonia is a common acute respiratory infection that affects the alveoli and distal bronchial tree of the lungs. https://www.nature.com/articles/s41572-021-00259-0 1. -- I do not think...
MONDO ID | Label | Potential term to merged with ID | Potential term to merged with label | Note -- | -- | -- | -- | -- MONDO:0000237...
**Mondo term (ID and Label)** MONDO:0019777 Carpenter-Waziri syndrome **Reason for deprecation** Carpenter-Waziri syndrome, ORPHA:93973 x-ref is no longer valid. ... "Summary This entity has been excluded from the Orphanet nomenclature...
It would be useful if MONDO included a way to distinguish between a disease entity and a disease grouping. Currently the only way to do this is to check for...
1. import disease pathway subset of PW 2. merge in KEGG IDs as xrefs 3. add xrefs to Reactome 4. anything else, wikipathways? 5. add linkages e.g. X disease realizes...
**Summary for discussion with Peter and Ada:** See [comment](https://github.com/monarch-initiative/mondo/issues/2826#issuecomment-953250968) with figure below. _updated 2021-10-27 NV_ ---- I am trying to sort through the X-refs and mappings between MONDO:0018677 Visceral heterotaxy...