search

obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
Other
293 stars 51 forks source link

Cardiomyopathy and molecular focus #2258

Closed pnrobinson closed 7 years ago

pnrobinson commented 7 years ago

From Stanford cardiology workshop

Cardiomyopathy and molecular focus

Cell types (CL) NTRs (and check):

NTR: Cardiofibroblast NTR:Right and left ventricular and atrial myocytes are all different NTR: Myofibroblast Bundle of HIS cells (needs to be synonym of atrioventricular bundle) = Purkinje myocyte of the AV bundle?
Purkinje fiber cells (in CL)

Cardiovascular disorder due to lysosomal storage disorders / enzymatic deficiency Cellular phenotypes Lysosomal metabolism term exists

Abnormal lysosomal metabolism (four terms now, need lots more)

Lab tests for blood samples Some are enzyme deficiencies, some are elevated products 

Julia suggested getting this list together offline

Alpha galactosidase A (Fabry) acid alpha-glucosidase (Pompe) -- glycogen storage Lysosome-associated membrane protein 2 (Danon) - Glycogen storage

Disease classification: Cardiac hypertrophy Storage disorder lysosomal

pnrobinson commented 7 years ago

@nicolevasilevsky @mellybelly The items in this issue are not very specific. I think that the various entities are covered in other issues. Could we close this issue and or define what the specific requests were in the meeting?

pnrobinson commented 7 years ago

I am going to close this issue because there are no specific requests. We can revisit later as needed.