Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Frasier syndrome	DOID_0050438	[A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.]
Danon disease	DOID_0050437	[A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.]
Usher syndrome	DOID_0050439	[A syndrome characterized by a combination of hearing loss and visual impairment.]
obsolete primary streptococcal infectious disease	DOID_0050421
obsolete primary Streptococcaceae infectious disease	DOID_0050420
long QT syndrome 15	DOID_0110656	[A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.]
congenital myasthenic syndrome 8	DOID_0110657	[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.]
long QT syndrome 13	DOID_0110654	[A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3.]
long QT syndrome 14	DOID_0110655	[A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11.]
long QT syndrome 11	DOID_0110652	[A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2.]
long QT syndrome 12	DOID_0110653	[A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21.]
long QT syndrome 9	DOID_0110650	[A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3.]
long QT syndrome 10	DOID_0110651	[A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3.]
congenital myasthenic syndrome 15	DOID_0110658	[A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.]
congenital myasthenic syndrome 7	DOID_0110659	[A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.]
obsolete enteroaggregative Escherichia coli infectious disease	DOID_0050423
obsolete Yersinia pseudotuberculosis gastroenteritis	DOID_0050422
Tabanidae	NCBITaxon_7205
xeroderma pigmentosum	DOID_0050427	[A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.]
Stevens-Johnson syndrome	DOID_0050426	[A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.]