All terms in DOID

Label Id Description
skeletal muscle neoplasm DOID_4044
hair follicle neoplasm DOID_5375
pilomatrixoma DOID_5374
musculoskeletal system cancer DOID_0060100 [An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.]
skin pilomatrix carcinoma DOID_5376
central nervous system rhabdomyosarcoma DOID_4048
hemoglobin E disease DOID_5379
hemoglobinopathy DOID_2860
hemoglobin D disease DOID_5378
liver rhabdomyosarcoma DOID_4047 [A rhabdomyosarcoma and sarcoma of liver that are located_in the liver.]
liver sarcoma DOID_270 [A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver.]
mediastinum rhabdomyosarcoma DOID_4049 [A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents.]
immunodeficiency 47 DOID_0112002 [A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28.]
immunodeficiency 50 DOID_0112001 [A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12.]
combined immunodeficiency DOID_0111962 [A primary immunodeficiency disease that involves multiple components of the immune system.]
immunodeficiency 34 DOID_0112000 [A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4.]
Erysipelotrichaceae NCBITaxon_128827
pituitary adenoma 1 DOID_0112009 [A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2.]
pituitary adenoma 5 DOID_0112008 [A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1.]
growth hormone secreting pituitary adenoma 2 DOID_0112007 [A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3.]