All terms in DOID

Label Id Description
congenital diaphragmatic hernia DOID_3827 [A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.]
diaphragm disease DOID_10481 [A muscular disease that is located_in the diaphragm.]
ectodermal dysplasia and immunodeficiency 2 DOID_0081079 [An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13.]
ectodermal dysplasia and immune deficiency DOID_0081077 [An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.]
chromophobe adenoma DOID_3828
eudicotyledons NCBITaxon_71240
pituitary gland benign neoplasm DOID_60009 [A benign neoplasm located in the pituitary gland.]
Simplexvirus NCBITaxon_10294
Alphaherpesvirinae NCBITaxon_10293
Human alphaherpesvirus 1 NCBITaxon_10298
Simplexvirus humanalpha1 NCBITaxon_3050292
EZB-MYC+ diffuse large B-cell lymphoma DOID_0081070 [An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.]
EZB diffuse large B-cell lymphoma DOID_0081065 [A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding.]
Culicoidini NCBITaxon_58262
Ceratopogoninae NCBITaxon_43801
Marsili syndrome DOID_0081075 [A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11.]
blastic plasmacytoid dendritic cell neoplasm DOID_0081076 [An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes.]
acute leukemia DOID_12603 [A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream.]
ectodermal dysplasia and immunodeficiency 1 DOID_0081078 [An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28.]
EZB-MYC- diffuse large B-cell lymphoma DOID_0081071 [An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations.]