Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
optic atrophy 5	DOID_0111438	[An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.]
atopic dermatitis 8	DOID_0110104	[An atopic dermatitis associated with variation in the region 4q22.1.]
optic atrophy 6	DOID_0111435	[An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22.]
atopic dermatitis 9	DOID_0110105	[An atopic dermatitis associated with variation in the region 3p24.]
optic atrophy 11	DOID_0111436	[An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in YME1L1 on chromosome 10p12.1.]
optic atrophy 3	DOID_0111433	[An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in OPA3 on chromosome 19q13.32.]
atopic dermatitis 6	DOID_0110102	[An atopic dermatitis associated with variation in the region 5q31-q33.]
obsolete plague meningitis	DOID_0050070
atopic dermatitis 7	DOID_0110103	[An atopic dermatitis associated with variation in the region 11q13.5.]
optic atrophy 10	DOID_0111434	[An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in RTN4IP1 on chromosome 6q21.]
essential tremor 4	DOID_0111431	[An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2.]
atopic dermatitis 4	DOID_0110100	[An atopic dermatitis associated with variation in the region 17q25.3.]
adiaspiromycosis	DOID_0050072	[A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens.]
Chrysosporium parvum	NCBITaxon_41283
atopic dermatitis 5	DOID_0110101	[An atopic dermatitis associated with variation in the region 13q12-q14.]
essential tremor 5	DOID_0111432	[An essential tremor that has_material_basis_in heterozygous mutation in TENM4 on chromosome 11q14.1.]
optic atrophy 8	DOID_0111439	[An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22.]
atrial heart septal defect 3	DOID_0110108	[An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12.]
atrial heart septal defect 4	DOID_0110109	[An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene.]
obsolete abortive plague	DOID_0050063