All terms in DOID

Label Id Description
obsolete classic Kaposi's sarcoma DOID_12763 [A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet.]
Ehrlich tumor carcinoma DOID_5050
endometriosis of rectovaginal septum and vagina DOID_11431 [A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina.]
endometriosis in scar of skin DOID_11430 [A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin.]
malignant granular cell esophageal tumor DOID_5040
vulvar granular cell tumor DOID_5043 [A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei.]
malignant granular cell myoblastoma DOID_5042
cardiac granular cell neoplasm DOID_5044
granular cell tumor of the sellar region DOID_5047 [A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes.]
hypersplenism DOID_6376
mediastinal granular cell myoblastoma DOID_5046
mediastinal neurilemmoma DOID_6175 [A neurilemmoma located_in the mediastinum.]
congenital myopathy 18 DOID_0081350 [A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.]
congenital myopathy 19 DOID_0081351 [A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36.]
Jansen's metaphyseal chondrodysplasia DOID_0080020 [A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.]
diffuse meningeal melanocytosis DOID_6379 [A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges.]
Schmid metaphyseal chondrodysplasia DOID_0080021 [A metaphyseal dysplasia that results_in dwarfism and bowed legs.]
congenital myopathy 20 DOID_0081352 [A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures.]
obsolete McKusick type metaphyseal dysplasia DOID_0080022
congenital myopathy 21 DOID_0081353 [A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31.]