X disease has basis in dysfunction of X¶
http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
Description¶
This is auto-generated. Add your description here
Examples: collagenopathy type 2 alpha 1, hemoglobinopathy, blood platelet disease (2195 total)
Contributors¶
Name¶
Definition¶
Any {disease} in which the causes of the disease is a perturbation of the {structure} leading to its dysfunction.
Equivalent to¶
{disease} and (disease has basis in dysfunction of some {structure})
Data preview¶
| defined_class | defined_class_label | v0 | v0_label | v1 | v1_label |
|---|---|---|---|---|---|
| MONDO:0008861 | 3-methylcrotonyl-CoA carboxylase 1 deficiency | MONDO:0018950 | 3-methylcrotonyl-CoA carboxylase deficiency | http://identifiers.org/hgnc/6936 | MCCC1 |
| MONDO:0008862 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | MONDO:0018950 | 3-methylcrotonyl-CoA carboxylase deficiency | http://identifiers.org/hgnc/6937 | MCCC2 |
| MONDO:0009610 | 3-methylglutaconic aciduria type 1 | MONDO:0017359 | 3-methylglutaconic aciduria | http://identifiers.org/hgnc/890 | AUH |
| MONDO:0009787 | 3-methylglutaconic aciduria type 3 | MONDO:0017359 | 3-methylglutaconic aciduria | http://identifiers.org/hgnc/8142 | OPA3 |
| MONDO:0012435 | 3-methylglutaconic aciduria type 5 | MONDO:0017359 | 3-methylglutaconic aciduria | http://identifiers.org/hgnc/30528 | DNAJC19 |
See full table here