All terms in DOID

Label Id Description
small intestine leiomyosarcoma DOID_5271 [A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines.]
paroxysmal nonkinesigenic dyskinesia 2 DOID_0090047 [A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31.]
dystonia 9 DOID_0090044 [A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.]
cutaneous leiomyosarcoma DOID_5273
glucose transporter type 1 deficiency syndrome 2 DOID_0090045 [A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.]
esophagus leiomyosarcoma DOID_5276
gallbladder leiomyosarcoma DOID_5275 [A gallbladder sarcoma that is located_in the soft tissues of the gallbladder.]
Abnormal platelet morphology HP_0011875
obsolete pediatric leiomyosarcoma DOID_5278
dystonia 16 DOID_0090048 [A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31.]
paroxysmal nonkinesigenic dyskinesia 1 DOID_0090049 [A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35.]
Abnormal platelet count HP_0011873
D-bifunctional protein deficiency DOID_0090031 [A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.]
Silverman-Handmaker type dyssegmental dysplasia DOID_0090032 [An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36.]
corticosteroid-binding globulin deficiency DOID_0090030 [An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.]
non-invasive bladder urothelial carcinoma DOID_6571
myoclonic dystonia 15 DOID_0090035 [A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11.]
myoclonic dystonia DOID_0090033 [A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life.]
myoclonic dystonia 26 DOID_0090036 [A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12.]
hemangioblastoma DOID_5241