All terms in DOID

Label Id Description
bejel DOID_13431 [A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face.]
postural orthostatic tachycardia syndrome DOID_0111154 [A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2.]
Larsen syndrome DOID_14764 [A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities.]
autosomal recessive spinocerebellar ataxia 21 DOID_0111155 [An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.]
multicentric Castleman disease DOID_0111152 [A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6.]
Castleman disease DOID_0111157 [A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically.]
plasma cell CL_0000786
autosomal dominant isolated ectopia lentis 1 DOID_0111150 [An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.]
isolated ectopia lentis DOID_0111148 [A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age.]
mature B cell CL_0000785
B cell, CD19-positive CL_0001201
professional antigen presenting cell CL_0000145
Saethre-Chotzen syndrome DOID_14768 [An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.]
Prinzmetal angina DOID_0111151 [A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity.]
bullous retinoschisis DOID_12108
obsolete primary retinal cyst DOID_12107
obsolete tricuspid valve syphilitic endocarditis DOID_12106
inflammatory spondylopathy DOID_12105
obsolete vitamin A deficiency with corneal xerosis and ulcer DOID_12104
SADDAN DOID_0111158 [A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.]