All terms in DOID

Label Id Description
endemic typhus DOID_0050481 [A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash.]
choroid plexus papilloma DOID_2626
obsolete Rickettsia aeschlimannii spotted fever DOID_0050483
obsolete lymphangitis-associated rickettsiosis DOID_0050482
adrenal cortical adenocarcinoma DOID_3959 [An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.]
sennetsu fever DOID_0050485 [A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia.]
obsolete papillary serous cystadenoma DOID_2629
aneruptive fever DOID_0050484 [A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia.]
bacterial exanthem DOID_0050487 [An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin.]
infantile hypercalcemia 1 DOID_0061136 [A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.]
congenital muscular dystrophy 1B DOID_0110634 [A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.]
muscular dystrophy-dystroglycanopathy type B5 DOID_0110635 [A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.]
monocyte, dendritic cell, and NK cell deficiency DOID_0111966 [A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells.]
spinocerebellar ataxia 27B DOID_0061137 [An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33.]
complex cortical dysplasia with other brain malformations 9 DOID_0061138 [A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12.]
dendritic cell deficiency DOID_0111963 [A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.]
megaconial type congenital muscular dystrophy DOID_0110632 [A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.]
coronary atherosclerosis DOID_0061139 [An atherosclerosis of the coronary vasculature.]
rigid spine muscular dystrophy 1 DOID_0110633 [A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.]
immunodeficiency 26 DOID_0111961 [A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21.]