All terms in DOID

Label Id Description
stuttering DOID_0060243 [An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.]
synpolydactyly DOID_0060242 [A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene.]
3-M syndrome DOID_0060241 [A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.]
small intestine leiomyoma DOID_1738 [A small intestine benign neoplasm that is located_in the small intestine.]
UV-sensitive syndrome DOID_0060240 [A skin disease characterized by photosensitivity and liver spots (solar lentigines).]
obsolete viral gastroenteritis DOID_1734 [A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting.]
X-linked ichthyosis DOID_1700 [An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.]
pulmonary adenocarcinoma in situ DOID_0050870 [A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.]
large cell neuroendocrine carcinoma DOID_0050872 [A lung large cell carcinoma that derives_from neuroendocrine cells.]
susceptibility to nonarteritic anterior ischemic optic neuropathy MIM_258660
fibroma DOID_0050871 [A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue.]
obsolete rickettsiosis DOID_1709
follicular lymphoma DOID_0050873 [A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts).]
Caroli disease DOID_0050876 [A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.]
obsolete small cell neuroendocrine carcinoma of the lung DOID_0050875
obsolete CLONE OF congenital afibrinogenemia DOID_0050878
Richter's syndrome DOID_1703
ichthyosis vulgaris DOID_1702 [An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.]
fragile X-associated tremor/ataxia syndrome DOID_0050879 [A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.]
colorectal adenocarcinoma DOID_0050861 [A colorectal carcinoma that derives_from epithelial cells of glandular origin.]