All terms in DOID

Label Id Description
microcephaly, growth deficiency, seizures, and brain malformations DOID_0081051 [A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22.]
obsolete avian leukosis DOID_3800 [A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors.]
neurobehavioral disorder with prenatal alcohol exposure DOID_0081052 [A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction.]
fetal alcohol spectrum disorder DOID_0050696 [A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.]
central nervous system chondroma DOID_3813
chondroma DOID_2602 [A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.]
soft tissue chondroma DOID_3814 [A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.]
glossopharyngeal nerve paralysis DOID_3816
cranial nerve palsy DOID_3817 [A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve.]
ST2 diffuse large B-cell lymphoma DOID_0081068 [A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding.]
diffuse large B-cell lymphoma DOID_0050745 [A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.]
A53 diffuse large B-cell lymphoma DOID_0081069 [A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.]
photoallergic dermatitis DOID_3818 [An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema.]
toxicodendron dermatitis DOID_3819 [An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction.]
urinary system disease DOID_18 [A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.]
musculoskeletal system disease DOID_17 [A disease of anatomical entity that occurs in the muscular and/or skeletal system.]
reproductive system disease DOID_15 [A disease of anatomical entity that is located_in reproductive system organs.]
BN2 diffuse large B-cell lymphoma DOID_0081064 [A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding.]
MCD diffuse large B-cell lymphoma DOID_0081066 [A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding.]
N1 diffuse large B-cell lymphoma DOID_0081067 [A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features.]