obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Granular osmiophilic deposits (GROD) in cells #7472

Closed pnrobinson closed 1 year ago

pnrobinson commented 2 years ago

GEt definition of this. Also, is this different from GOM in CADASIL (probably) https://www.researchgate.net/publication/336920609_Progression_and_Classification_of_Granular_Osmiophilic_Material_GOM_Deposits_in_Functionally_Characterized_Human_NOTCH3_Transgenic_Mice/fulltext/5dbadbf6299bf1a47b032112/Progression-and-Classification-of-Granular-Osmiophilic-Material-GOM-Deposits-in-Functionally-Characterized-Human-NOTCH3-Transgenic-Mice.pdf

See https://pubmed.ncbi.nlm.nih.gov/10371078/ for OMIM:125310

Parent term (use hpo.jax.org/app)

Diseases characterized by this term ? (e.g. Orphanet or OMIM number)

Your nano-attribution (ORCID)

pnrobinson commented 1 year ago

added as Vascular granular osmiophilic material deposition