|
splice_donor_variant
|
SO_0001575 |
|
|
splice_donor_variant_NMD_escaping
|
SO_0002326 |
|
|
tracheobronchitis
|
SYMP_0000160 |
|
|
splice_acceptor_variant_NMD_triggering
|
SO_0002327 |
|
|
splice_acceptor_variant
|
SO_0001574 |
|
|
splice_acceptor_variant_NMD_escaping
|
SO_0002328 |
|
|
axillary adenitis
|
DOID_4640 |
|
|
atopic dermatitis
|
DOID_3310 |
[An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.] |
|
allergic contact dermatitis
|
DOID_3042 |
[A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.] |
|
kidney pelvis papillary carcinoma
|
DOID_5973 |
[A papillary carcinoma that is located_in the kidney pelvis.] |
|
renal pelvis transitional cell carcinoma
|
DOID_5974 |
|
|
obsolete Bacteroides infectious disease
|
DOID_4641 |
|
|
bipolar disorder
|
DOID_3312 |
[A mood disorder that involves alternating periods of mania and depression.] |
|
epidermolysis bullosa simplex
|
DOID_4644 |
[An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.] |
|
epidermolysis bullosa
|
DOID_2730 |
[A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.] |
|
renal pelvis papillary tumor
|
DOID_5975 |
|
|
renal pelvis benign neoplasm
|
DOID_5977 |
|
|
renal pelvis carcinoma
|
DOID_4919 |
|
|
transitional cell carcinoma
|
DOID_2671 |
[A carcinoma that derives_from transitional epithelial cells.] |
|
kidney benign neoplasm
|
DOID_3116 |
|