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monarch-initiative / mondo

Mondo Disease Ontology

http://obofoundry.org/ontology/mondo

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check new OMIMPS #6777

Closed nicolevasilevsky closed 1 year ago

nicolevasilevsky commented 1 year ago

These might come in the OMIM migration files, but OMIM noted these new phenotypic series (we'll probably need to split some terms):

[x] PS182960 Neuronopathy, distal hereditary motor, autosomal dominant - add as xref
[x] PS604320 Neuronopathy, distal hereditary motor, autosomal recessive - add as xref
[x] PS616033 Microcephaly, short stature, and impaired glucose metabolism - add new term, a split is not needed

nicolevasilevsky commented 1 year ago

[x] PS133700 Exostoses, Multiple - add xref to MONDO:0005508
[x] PS273395 Tetraamelia syndrome - add xref to MONDO:0010110