All terms in DOID

Label Id Description
lacrimal duct obstruction DOID_13929
anal Buschke-Lowenstein tumor DOID_7175
high myopia-sensorineural deafness syndrome DOID_0111628 [A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1.]
susceptibility to autism 19 MIM_615091
dihydropyrimidinase deficiency DOID_0111629 [A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3.]
pyrimidine metabolic disorder DOID_0050832 [An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.]
D-glyceric aciduria DOID_0111626 [An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2.]
mixed eosinophil-basophil adenoma DOID_7179
necrotizing ulcerative gingivitis DOID_13924
DOORS syndrome DOID_0111627 [A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3.]
phytoestrogen CHEBI_76989 [Any compound produced by a plant that happens to have estrogenic activity.]
ectodermal dysplasia 13 DOID_0111650 [An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1.]
facial paralysis DOID_13934
hypertrophic cardiomyopathy 20 DOID_0110326 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1.]
ectodermal dysplasia 5 DOID_0111657 [A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1.]
pure hair and nail ectodermal dysplasia DOID_0111655 [An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations.]
hypertrophic cardiomyopathy 26 DOID_0110327 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.]
ectodermal dysplasia 4 DOID_0111658 [A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13.]
hypertrophic cardiomyopathy 18 DOID_0110324 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1.]
ectodermal dysplasia 9 DOID_0111656 [A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13.]