EBISPOT / efo

Github repo for the Experimental Factor Ontology (EFO)
https://www.ebi.ac.uk/efo/
56 stars 13 forks source link

Revise parentage of EFO Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome #587

Closed paolaroncaglia closed 2 years ago

paolaroncaglia commented 5 years ago

EFO Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome

"Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis ). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals. [ https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome ]"

Subclass of: Rare disease with thoracic aortic aneurysm and aortic dissection Genetic central nervous system and retinal vascular disease intestinal motility disease muscular disease disease of genitourinary system Rare genetic urogenital disease Congenital intestinal motility disorder has_disease_location some smooth muscle

At a quick glance, based on the definition, all parents should be removed except for 'muscular disease' (and relative axiom).

Also, EFO Orphanet:404463 maps to MONDO:0013452 which has similar issues. Depending on what strategy Mondo decides to adopt, we may or may not need to open a ticket with them about this term, but not yet.

paolaroncaglia commented 2 years ago

@zoependlington this can be closed if it's expected to be addressed by the ongoing Orphanet overhaul.