All terms in DOID

Label Id Description
Borjeson-Forssman-Lehmann syndrome DOID_0050681 [An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.]
janus kinase-3 deficiency DOID_0060008 [A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells.]
fallopian tube adenosarcoma DOID_1973 [A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.]
fallopian tube carcinosarcoma DOID_1970 [A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.]
Boomerang dysplasia DOID_0050680 [An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14.]
CD3zeta deficiency DOID_0060007 [A severe combined immunodeficiency that affects the development and function of T cells.]
Bothnia retinal dystrophy DOID_0050683 [A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene.]
obsolete artemis deficiency DOID_0060006 [A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA.]
Athabaskan brainstem dysgenesis syndrome DOID_0050682 [A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.]
small cell carcinoma DOID_0050685 [A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.]
Bowen-Conradi syndrome DOID_0050684 [A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13.]
inactive_ligand_binding_site SO_0001560
polypeptide_loss_of_function_variant SO_0001559
polypeptide_partial_loss_of_function SO_0001561
polypeptide_post_translational_processing_variant SO_0001562
polypeptide_function_variant SO_0001554
obsolete tuberculous lung cavity DOID_587 [A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum.]
decreased_translational_product_level SO_0001555
increased_translational_product_level SO_0001556
polypeptide_gain_of_function_variant SO_0001557