All terms in DOID

Label Id Description
primary immunodeficiency disease DOID_612 [An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.]
autosomal dominant disease DOID_0050736 [An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.]
increased_gene_product_level SO_0002315
B-cell adult acute lymphocytic leukemia DOID_0060592 [An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes.]
lymphoma DOID_0060058 [A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.]
adult acute lymphocytic leukemia DOID_5604 [An acute lymphocytic leukemia occurring during adulthood.]
decreased_gene_product_level SO_0002316
absent_gene_product SO_0002317
null_mutation SO_0002055
altered_gene_product_sequence SO_0002318
Noonan syndrome 8 DOID_0060586 [A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22.]
Noonan syndrome DOID_3490 [A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.]
Noonan syndrome 9 DOID_0060587 [A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21.]
Noonan syndrome 10 DOID_0060588 [A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11.]
Yunis-Varon syndrome DOID_0060589 [A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.]
Protomacleaya NCBITaxon_119225
Ochlerotatus <genus> NCBITaxon_190765
Noonan syndrome 2 DOID_0060580 [A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11.]
Noonan syndrome 3 DOID_0060581 [A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene.]
Noonan syndrome 4 DOID_0060582 [A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22.]