All terms in DOID

Label Id Description
obsolete hypertrophic cardiomyopathy 19 DOID_0110325
rheumatic myocarditis DOID_8481
obsolete recurrent parathyroid cancer DOID_7150
hypertrophic cardiomyopathy 16 DOID_0110322 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26.]
ectodermal dysplasia 11A DOID_0111653 [A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43.]
transient retinal arterial occlusion DOID_8482
ectodermal dysplasia 11B DOID_0111654 [A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43.]
hypertrophic cardiomyopathy 17 DOID_0110323 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12.]
ectodermal dysplasia 15 DOID_0111651 [An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1.]
hypertrophic cardiomyopathy 14 DOID_0110320 [A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene.]
ectodermal dysplasia 12 DOID_0111652 [A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11.]
hypertrophic cardiomyopathy 15 DOID_0110321 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22.]
laryngeal small cell carcinoma DOID_7144
scleroderma DOID_419 [A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.]
prostate small cell carcinoma DOID_7141
thymus small cell carcinoma DOID_7142
obsolete staphylococcal pneumonia DOID_12608 [A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst.]
actinomycosis DOID_8478 [A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures.]
amenorrhea DOID_13938 [A female reproductive system disease that is characterized by the absence of menstruation.]
rheumatoid arthritis DOID_7148 [An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.]