A conserved pathological module representing the dysregulation of normal wound healing (GO:0042060) that underlies organ fibrosis across tissues. Tissue injury triggers inflammation and resident mesenchymal cell activation, leading to myofibroblast transdifferentiation, excessive extracellular matrix deposition, and progressive architectural distortion with organ dysfunction. This module captures the shared core of fibrotic disease across liver, lung, heart, kidney, skin, and other organs. Individual disorder entries declare conformance via conforms_to on their pathophysiology nodes, substituting organ-specific cell types and anatomical locations while preserving the conserved causal chain and signaling axes.
5 nodes
3 cell types
7 processes
6 disorders
A conserved pathological module representing hepatocellular endoplasmic reticulum (ER) storage disease: a mutant secretory protein misfolds during biogenesis, is retained and polymerized within the hepatocyte ER instead of being secreted, and imposes proteotoxic gain-of-function stress on the cell. Saturation of ER-associated degradation and autophagy drives chronic hepatocyte injury, and the resulting cycle of death and regeneration activates hepatic stellate cells, producing progressive fibrosis and cirrhosis. The conserved core is shared across ER storage hepatopathies, the prototype being Z alpha-1 antitrypsin (Z-AAT) polymer retention; mutant fibrinogen retention in hepatic fibrinogen storage disease (HFSD) follows the same cascade with a different stored protein. The terminal fibrotic step conforms to the conserved fibrotic response module.
4 nodes
3 cell types
6 processes
1 disorder
A conserved mechanism module for familial adult myoclonus epilepsy caused by intronic pentanucleotide repeat expansions that contain pathogenic TTTCA insertions. Across multiple unrelated host genes, the shared repeat architecture is linked to UUUCA repeat RNA toxicity, cerebellocortical dysfunction, and cortical hyperexcitability with myoclonus and seizures.
4 nodes
3 cell types
1 process
1 disorder
A conserved mechanism module representing the tumor-immune cycle that checkpoint inhibitors target. Across many cancer types, tumor cells generate neoantigens that provoke anti-tumor T cell responses, but adaptively upregulate immune checkpoint ligands (PD-L1, PD-L2) and recruit immunosuppressive cells to evade destruction. Immune checkpoint blockade (anti-PD-1, anti-PD-L1, anti-CTLA-4) reverses this evasion by restoring effector T cell function. This module captures the shared causal chain from neoantigen presentation through adaptive immune resistance to T cell exhaustion, and defines the mechanism-of-action pattern for checkpoint inhibitor treatments. Individual disorder entries declare conformance via conforms_to on their pathophysiology nodes, substituting tumor-type-specific details (driver mutations, neoantigen sources, tissue-specific immune microenvironment) while preserving the conserved immune evasion and checkpoint blockade response pattern.
4 nodes
2 cell types
5 processes
19 disorders
A conserved intestinal pathophysiology module representing convergent mechanisms that produce diarrhea through epithelial injury, junctional disruption, increased mucosal permeability, impaired absorption, and downstream fluid loss. The initiating insult varies across immune-mediated enteritides, treatment-related mucositis, dysbiosis-associated inflammation, and related disorders, but the downstream sequence repeatedly converges on barrier failure and diarrheal output.
7 nodes
3 cell types
4 processes
1 disorder