Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
sitosterolemia	DOID_0090019	[An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21.]
Weissenbacher-Zweymuller syndrome	DOID_4258	[An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.]
coagulopathy	SYMP_0019143
microangiopathy	SYMP_0019144
hyponatremia	SYMP_0019146
susceptibility to autism 18	OMIM_615032
hematemesis	SYMP_0019147	[A vomiting where there is vomiting of blood.]
septicemia	SYMP_0019148
gait apraxia	DOID_4260
eccrine papillary adenocarcinoma	DOID_5591
Tietz syndrome	DOID_0090002	[A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13.]
aggressive digital papillary adenocarcinoma	DOID_5590	[A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential.]
agenesis of the corpus callosum with peripheral neuropathy	DOID_0090003	[A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14.]
gastric papillary adenocarcinoma	DOID_5593	[A papillary adenocarcinoma that is located_in the stomach.]
breast papillary carcinoma	DOID_5592	[A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass.]
Fraser syndrome	DOID_0090001	[A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.]
papillary thymic adenocarcinoma	DOID_5595
renal coloboma syndrome	DOID_0090006	[A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24.]
obsolete drug-induced akathisia	DOID_4263
obsolete intraductal papillary adenocarcinoma with invasion	DOID_5594