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monarch-initiative / phenopacket-store

Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.
https://monarch-initiative.github.io/phenopacket-store/
BSD 3-Clause "New" or "Revised" License
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Fingertip Tufting #65

Closed pnrobinson closed 4 months ago

pnrobinson commented 7 months ago

https://github.com/obophenotype/human-phenotype-ontology/issues/10282

add to LMNA Meredith

pnrobinson commented 7 months ago

The tufting finding is not well define, but let's add https://hpo.jax.org/app/browse/term/HP:0008887 for partial lipodystrophy