Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
autosomal recessive spinocerebellar ataxia 22	DOID_0111614	[An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in VWA3B on chromosome 2q11.2.]
Sporothrix	NCBITaxon_29907
autosomal recessive spinocerebellar ataxia 4	DOID_0111611	[An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in VPS13D on chromosome 1p36.22-p36.21.]
autosomal recessive spinocerebellar ataxia 3	DOID_0111612	[An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21.]
distal arthrogryposis type 4	DOID_0111610	[A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis.]
distal arthrogryposis	DOID_0050646	[A muscle tissue disease characterized by congenital joint contractures of hand and feet.]
hereditary conventional renal cell carcinoma	DOID_7192
subacute lymphocytic thyroiditis	DOID_7187
thyroiditis	DOID_7166
autoimmune thyroiditis	DOID_7188	[An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.]
combined D-2- and L-2-hydroxyglutaric aciduria	DOID_0111619	[A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A1 on chromosome 22q11.21.]
2-hydroxyglutaric aciduria	DOID_0050573	[An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.]
obsolete metastatic childhood sarcoma of soft tissue	DOID_7186
autosomal recessive spinocerebellar ataxia 6	DOID_0111617	[An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13.]
autosomal recessive spinocerebellar ataxia 8	DOID_0111618	[An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2.]
autosomal recessive spinocerebellar ataxia 24	DOID_0111615	[An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in UBA5 on chromosome 3q22.1.]
autosomal recessive spinocerebellar ataxia 27	DOID_0111616	[An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in GDAP2 on chromosome 1p12.]
obsolete Opisthorchis felineus infectious disease	DOID_0050139	[A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage.]
podoconiosis	DOID_0050138	[An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits.]
hemophagocytic lymphohistiocytosis	DOID_0050120	[A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.]