Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
juvenile absence epilepsy 1	DOID_0111324	[A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2.]
juvenile absence epilepsy	DOID_0060172	[An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.]
idiopathic generalized epilepsy 7	DOID_0111321	[An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14.]
idiopathic generalized epilepsy 8	DOID_0111322	[An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1.]
Geotrichum	NCBITaxon_43987
pyridoxamine 5'-phosphate oxidase deficiency	DOID_0111329	[A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32.]
organic univalent group	CHEBI_51447
organic group	CHEBI_33247	[Any substituent group or skeleton containing carbon.]
Erysipelothrix rhusiopathiae	NCBITaxon_1648
Erysipelothrix	NCBITaxon_1647
perineural vascular plexus	UBERON_0015189
capillary bed	UBERON_0013141
D-2-hydroxyglutaric aciduria 2	DOID_0111352	[A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1.]
D-2-hydroxyglutaric aciduria	DOID_0050575	[An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.]
age related macular degeneration 9	DOID_0110021	[An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13.]
age related macular degeneration 10	DOID_0110022	[An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene.]
arthrogryposis, renal dysfunction, and cholestasis 1	DOID_0111353	[An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1.]
ARC syndrome	DOID_0050763	[A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.]
Laurin-Sandrow syndrome	DOID_0111350	[A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (<80kb) duplications in a SHH regulatory element located in intron 5 of LMBR1 on chromosome 7q36.3.]
D-2-hydroxyglutaric aciduria 1	DOID_0111351	[A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3.]