Closed LCCarmody closed 4 years ago
@LCCarmody Looking some more through gene reviews, we may also include some of these terms to our nutrition intake avoidance pattern:
Refsum disease
Sitosterolemia
Primary trimethylaminuria
Phosphoribosylpyrophosphate Synthetase Superactivity
Lysinuric Protein Intolerance
Pyruvate carboxylase deficiency
Epimerase Deficiency Galactosemia
Dihydrolipoamide Dehydrogenase Deficiency & Maple Syrup Urine Disease
Primary Hyperoxaluria Type 2.
Polycystic Kidney Disease, Autosomal Dominant.
Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related.
Familial Hypercholesterolemia
HTRA1 Disorder
Dent Disease
Fructose-1,6-Bisphosphatase Deficiency
Biotinidase Deficiency
Hyperphosphatemic Familial Tumoral Calcinosis
Hereditary Fructose Intolerance
Lysosomal Acid Lipase Deficiency
Duarte Variant Galactosemia.
Isolated Methylmalonic Acidemia.
Glycogen Storage Disease Type I & Hyperkalemic Periodic Paralysis
Familial Porphyria Cutanea Tarda
Riboflavin Transporter Deficiency Neuronopathy.
Hereditary Coproporphyria
I think we have all of these, but just to be sure: avoid high/excess carbohydrate diet avoid high/excess protein diet avoid high/excess fat diet these are seen through a variety of rare diseases but all are seen at least once.
Creating a CHEBI avoidance_of_food_intake pattern to take care of many of these terms. DIet terms are being dealt with elsewhere.
I have added many of these terms. A handful of others have moved to other tickets or need to be longer discussions with the food community.
Trying to consolidate several tickets. Will close tickets, but go back to closed tickets for defs/PMID xrefs.
82 #83 #93 #4 #48 # #95