Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
pulmonary vein leiomyosarcoma	DOID_7388	[A leiomyosarcoma that is located_in the pulmonary vein.]
familial apolipoprotein C-II deficiency	DOID_0111418	[A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in APOC2 on chromosome 19q13.32.]
Jalili syndrome	DOID_0111404	[A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2.]
obsolete postpartum benign essential hypertension	DOID_13702
Fraser syndrome 1	DOID_0111405	[A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in FRAS1 on chromosome 4q21.21.]
mucopolysaccharidosis type IIID	DOID_0111402	[A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.]
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	DOID_0111403	[A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in MAST1 on chromosome 19p13.13.]
obsolete resectable duodenal carcinoma	DOID_6071
congenital dyserythropoietic anemia type IV	DOID_0111400	[A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in KLF1 on chromosome 19p13.13.]
congenital dyserythropoietic anemia	DOID_1338	[A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.]
congenital dyserythropoietic anemia type II	DOID_0111401	[A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in SEC23B on chromosome 20p11.23.]
premature ejaculation	DOID_13709
urinary tract non-invasive transitional cell neoplasm	DOID_6065
exudative vitreoretinopathy 5	DOID_0111408	[An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in TSPAN12 on chromosome 7q31.31.]
exudative vitreoretinopathy 3	DOID_0111409	[An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12.]
cerebral primitive neuroectodermal tumor	DOID_7398
Fraser syndrome 3	DOID_0111406	[A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in GRIP1 on chromosome 12q14.3.]
Fraser syndrome 2	DOID_0111407	[A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in FREM2 on chromosome13q13.3.]
gRNA_encoding	SO_0000979	[A non-protein_coding gene that encodes a guide_RNA.]
anodontia	DOID_13714