All terms in DOID

Label Id Description
skin nasal cell carcinoma with sebaceous differentiation DOID_4286 [A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin.]
obsolete complications of pregnancy, childbirth and the puerperium DOID_4285
external ear carcinoma DOID_4288 [An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.]
external ear basal cell carcinoma DOID_4287
Klippel-Feil syndrome 3 DOID_0080591 [A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13.]
micronodular basal cell carcinoma DOID_4289 [A basal cell carcinoma characterized by solid tumor nodules.]
Klippel-Feil syndrome 4 DOID_0080592 [A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12.]
orofacial cleft 6 DOID_0080593 [An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32.]
hyper IgE recurrent infection syndrome 2 DOID_0080594 [A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24.]
Klippel-Feil syndrome 2 DOID_0080590 [A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21.]
reducing body myopathy 1B DOID_0080687 [A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.]
mosaic variegated aneuploidy syndrome 3 DOID_0080689 [A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein.]
diffuse midline glioma, H3 K27M-mutant DOID_0080684 [A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.]
histone mutated tumor DOID_0080879 [A high grade glioma that has_material_basis_in mutations in the genes encoding histones.]
aortic dissection DOID_0080685 [An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall.]
tubular aggregate myopathy 2 DOID_0080686 [A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24.]
diaphoresis SYMP_0019152 [A sweat that is characterized by excessive sweating commonly associated with shock and other medical emergency conditions.]
sweaty SYMP_0019175 [A skin and integumentary tissue symptom that is characterized by the excretion of moisture in visible quantities through the opening of the sweat glands.]
hemorrhagic mediastinitis SYMP_0019154 [A respiratory abnormality that is characterized by inflammation of the mediastinum (the chest cavity, which contains the heart, the thymus gland, some lymph nodes, and parts of the esophagus, aorta, thyroid, and parathyroid glands) as the result of bleeding.]
hematogenous SYMP_0019156