Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
fibrogenesis imperfecta ossium	DOID_0080040	[A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.]
achondrogenesis type II	DOID_0080056	[An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.]
autosomal recessive spinocerebellar ataxia 15	DOID_0080057
autosomal recessive spinocerebellar ataxia 14	DOID_0080058
autosomal recessive spinocerebellar ataxia 7	DOID_0080059
Abnormal thrombocyte morphology	HP_0001872	[An abnormality of platelets.]
lacrimal duct cancer	DOID_12756
lacrimal system cancer	DOID_292
fallopian tube endometriosis	DOID_11424	[A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube.]
corneal staphyloma	DOID_12753
obsolete acquired cavovarus foot deformity	DOID_11421
iodine hypothyroidism	DOID_5083
hypothyroidism	DOID_1459	[A thyroid gland disease which involves an underproduction of thyroid hormone.]
liver cirrhosis	DOID_5082
cyclosporiasis	DOID_12750	[A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue.]
telencephalic ventricle	UBERON_0002285
obsolete malignant neoplasm of meninges	DOID_5073
mixed glioma	DOID_5076
myxopapillary ependymoma	DOID_5075
ganglioglioma	DOID_5078	[A cell type benign neoplasm that has_material_basis_in glial-type cells.]