Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
primary cerebellar degeneration	DOID_9277
tyrosinemia	DOID_9275	[An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.]
tetrahydrofuranone	CHEBI_47016	[Any oxolane having an oxo- substituent at any position on the tetrahydrofuran ring.]
oxolanes	CHEBI_26912	[Any oxacycle having an oxolane (tetrahydrofuran) skeleton.]
hyperhomocysteinemia	DOID_9279	[An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.]
Pulicidae	NCBITaxon_7511
Fasciolidae	NCBITaxon_27843
Echinostoma	NCBITaxon_27847
acrocallosal syndrome	DOID_9250	[A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation., A syndrome]
Phlebotomus <genus>	NCBITaxon_13203
Phlebotominae	NCBITaxon_7198
Alagille syndrome	DOID_9245	[A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.]
Beemer-Langer syndrome	DOID_9249	[A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.]
Pallister-Hall syndrome	DOID_9248
Abnormality of carboxylic acid metabolism	HP_0004354	[An abnormality of the metabolism of a carboxylic acid.]
amyloidosis	DOID_9120	[An acquired metabolic disease that has_material_basis_in extracellular tissue deposition of mis-folded proteins called fibrils composed of low molecular weight subunits of a variety of proteins. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.]
Abnormality of the cerebrum	HP_0002060	[An abnormality of the telencephalon, which is also known as the cerebrum.]
terpene lactone	CHEBI_37668
sesquiterpenoid	CHEBI_26658	[Any terpenoid derived from a sesquiterpene. The term includes compounds in which the C15 skeleton of the parent sesquiterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).]
lactone	CHEBI_25000	[Any cyclic carboxylic ester containing a 1-oxacycloalkan-2-one structure, or an analogue having unsaturation or heteroatoms replacing one or more carbon atoms of the ring.]