All terms in DOID

Label Id Description
exanthema subitum DOID_0050495 [A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human betaherpesvirus 6B (Roseolovirus humanbeta6b) or 7 (Roseolovirus humanbeta7) and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.]
obsolete dsDNA virus infectious disease DOID_0050498 [A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA.]
obsolete Anelloviridae infectious disease DOID_0050497 [A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses.]
neurodevelopmental disorder with or without autism or seizures DOID_0061147 [An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36.]
immunodeficiency 9 DOID_0111976 [A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31.]
long QT syndrome 2 DOID_0110645 [A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.]
long QT syndrome 3 DOID_0110646 [A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2.]
immunodeficiency 7 DOID_0111977 [A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2.]
hereditary congenital ptosis 2 DOID_0061148 [A hereditary congenital ptosis that has_material_basis_in linkage to the X chromosome.]
congenital ptosis DOID_0060261 [A ptosis characterized by superior eyelid drop present at birth.]
hereditary congenital ptosis 1 DOID_0061149 [A hereditary congenital ptosis that has_material_basis_in autosomal dominant inheritance.]
immunodeficiency 59 DOID_0111974 [A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3.]
B cell and dendritic cell deficiency DOID_0111964 [A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells.]
long QT syndrome 1 DOID_0110644 [A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.]
immunodeficiency 44 DOID_0111975 [A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3.]
immunodeficiency 19 DOID_0111972 [A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3.]
immunodeficiency 17 DOID_0111973 [A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3.]
parenchymatous neurosyphilis DOID_0050490 [A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy.]
immunodeficiency 10 DOID_0111970 [A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4.]
congenital muscular dystrophy due to LMNA mutation DOID_0110640 [A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.]