All terms in DOID

Label Id Description
dystonia 12 DOID_0090056 [A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.]
lung leiomyosarcoma DOID_5265 [A leiomyosarcoma and sarcoma of lung that is located_in the lung.]
epithelioid leiomyosarcoma DOID_5264 [A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm.]
gastric tubular adenocarcinoma DOID_6595
anus leiomyosarcoma DOID_5267 [A leiomyosarcoma and sarcoma of the anus that is located_in the anus.]
enhanced S-cone syndrome DOID_0090059 [A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23.]
obsolete leiomyosarcoma metastatic DOID_5266
myxoid leiomyosarcoma DOID_5268 [A leiomyosarcoma that is characterized by abundant myxoid stroma.]
Japanese encephalitis virus NCBITaxon_11072
Orthoflavivirus japonicum NCBITaxon_3048158
torsion dystonia 17 DOID_0090042 [A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12.]
dopa-responsive dystonia DOID_0090043 [A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13.]
obsolete malignant mesenchymal neoplasm of the stomach DOID_5281
Kunjin virus NCBITaxon_11077
torsion dystonia 7 DOID_0090040 [A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p.]
gastric leiomyosarcoma DOID_5280
torsion dystonia 4 DOID_0090041 [A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13.]
Murray Valley encephalitis virus NCBITaxon_11079
Orthoflavivirus murrayense NCBITaxon_3048215
dystonia 21 DOID_0090046 [A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3.]