All terms in DOID

Label Id Description
hypermanganesemia with dystonia DOID_0080535 [A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese.]
hypermanganesemia with dystonia 1 DOID_0080536 [A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41.]
granular corneal dystrophy 1 DOID_0080530 [A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface.]
dedifferentiated liposarcoma DOID_0080531 [A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells.]
Smarca4-deficient sarcoma of thorax DOID_0080532 [A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex).]
hypermanganesemia with dystonia 2 DOID_0080537 [A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21.]
Sweeney-Cox syndrome DOID_0080538 [A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.]
PEHO syndrome DOID_0080539 [A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss.]
ammonia CHEBI_16134
mononuclear parent hydride CHEBI_37176
azane CHEBI_35107
sternum lymphoma DOID_6762
obsolete intraurothelial neoplasia DOID_5430
decreased tearing SYMP_0020050 [An eye symptom that is characterized by a reduction in the saline fluid secreted by the lacrimal gland.]
lung lymphoma DOID_6760
urinary tract papillary transitional cell benign neoplasm DOID_5433
obsolete skin lymphoma DOID_6761
Actinomycetes NCBITaxon_1760
scrapie DOID_5434
mammary gland inflammation SYMP_0020053 [A skin and integumentary tissue symptom that is characterized by an inflammation of the mammary gland or udder and usually caused by infection.]