Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Charcot-Marie-Tooth disease dominant intermediate A	DOID_0110202	[A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1.]
linear nevus sebaceous syndrome	DOID_0111530	[A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in NRAS, HRAS, or KRAS on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.]
bilateral optic nerve hypoplasia	DOID_0111531	[An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13.]
Charcot-Marie-Tooth disease dominant intermediate D	DOID_0110200	[A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.]
epithelioid malignant peripheral nerve sheath tumor	DOID_8353
obsolete borderline ovarian serous neoplasm with microinvasion	DOID_7023
complement component 3 deficiency	DOID_8354	[A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.]
lymphogranuloma venereum	DOID_13819	[A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis.]
granuloma inguinale	DOID_9113	[A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers.]
aortic malignant tumor	DOID_8352	[A vascular cancer that is located_in the aorta.]
yellow fever	DOID_9682	[A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood.]
Haemagogus <genus>	NCBITaxon_7180
obsolete single episode manic disorder mild degree	DOID_13818
obsolete adult malignant meningioma	DOID_7026
obsolete single episode manic disease moderate degree	DOID_13817
Charcot-Marie-Tooth disease X-linked dominant 1	DOID_0110209	[A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.]
pseudoglandular variant testicular seminoma	DOID_8358
mucinous intrahepatic cholangiocarcinoma	DOID_7024
paramyotonia congenita of Von Eulenburg	DOID_0111538	[A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in SCN4A on chromosome 17q23.3.]
Charcot-Marie-Tooth disease X-linked dominant 6	DOID_0110207	[A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22.]