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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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review DOID:0111815 #1326

Closed SianGramates closed 1 month ago

SianGramates commented 1 month ago

Is your request related to a specific disease? Please describe. low molecular weight proteinuria with hypercalciuric nephrocalcinosis

Describe the proposed change(s) Definition has a typo; please correct 'elevted' to 'elevated'.

I'm also wondering if OMIM should be encouraged to merge this disease (MIM:308990) with the nearly identical Dent disease 1 (MIM:300009).

References Provide links to a database or a PubMed ID

lschriml commented 1 month ago

Thank you Sian !! Fixed. OMIM does note that 'low molecular weight proteinuria with hypercalciuric nephrocalcinosis' is a member of the Dent disease complex.

Agreed, this is worth asking OMIM to review, to see if Dent 1 and 'low molecular weight proteinuria with hypercalciuric nephrocalcinosis' should be merged.

Cheers, Lynn