monarch-initiative / MAxO

Medical action ontology
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Consolidate 'nutritional restriction/avoidance' tickets and add to pattern(s) #112

Closed LCCarmody closed 4 years ago

LCCarmody commented 5 years ago

Trying to consolidate several tickets. Will close tickets, but go back to closed tickets for defs/PMID xrefs.

82 #83 #93 #4 #48 # #95

  Term In MAXO Notes:
- [x] isoleucine restricted diet no  
- [ ] dietary precursor restriction diet no  
- [x] dietary protein restricion yes  
- [ ] Iron chelation no  
- [x] arginine restriction (or avoidance?) no  
- [x] lysine restriction no  
- [x] methione restriction no  
- [x] glycine restriction no  
- [x] Dietary restriction branched amino-acids no  
- [x] phenylalanine restriction yes #82
- [ ] low fat diet no  
- [x] tyrosine restriction no #82
- [ ] fasting avoidance yes  
- [x] gluten avoidance   #83
- [x] Sodium avoidance   #83
- [x] galactose free diet no #93
- [x] cholesterol restriction    
- [x] ascorbate restriction   #48
- [x] iron restriction   #48
- [x] ascorbic acid restriction   #48
- [x] branched chain amino acid restriction #95
laurenechan commented 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.

LCCarmody commented 4 years ago

Creating a CHEBI avoidance_of_food_intake pattern to take care of many of these terms. DIet terms are being dealt with elsewhere.

LCCarmody commented 4 years ago

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.