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monarch-initiative / monarch-disease-ontology-RETIRED

THIS IS THE OLD REPO: Use this one instead: https://github.com/monarch-initiative/mondo-build
https://github.com/monarch-initiative/mondo-build
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Hypotrichosis-Lymphedema-Telangiectasia Syndrome - with/without renal #401

Closed cmungall closed 6 years ago

cmungall commented 6 years ago

kboom splits the orpha into two omim subclasses:

image

This is backed up by the orphanet ntbt calls, and biologically justified (the two forms are both SOX18, het vs hom), but this seems to be one of those prototype cases (#149), note the similarity in name between the renal form and the orphanet grouping.

It doesn't seem quite right to name the grouping with the renal phenotype. Not clear what the name of the grouping should be.

other info: https://rarediseases.info.nih.gov/diseases/12827/hypotrichosis-lymphedema-telangiectasia-syndrome

this is how our HPOA annotations are distributed:

image

nicolevasilevsky commented 6 years ago

this looks like it has been fixed in MONDO