All terms in DOID

Label Id Description
Solaneae NCBITaxon_424574
autosomal dominant nonsyndromic deafness 82 DOID_0070603 [An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1.]
intellectual disability and myopathy syndrome DOID_0070600 [A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 on chromosome 12p12.]
autosomal dominant nonsyndromic deafness 37 DOID_0070601 [An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1.]
obsolete oropharyngeal candidiasis DOID_2271 [A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing.]
vulvovaginal candidiasis DOID_2272 [A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.]
vulvovaginitis DOID_2273 [A female reproductive system disease that is characterized by inflammation of the vagina and vulva.]
pharyngitis DOID_2275 [An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever.]
muscle necrosis SYMP_0000334
soft tissue necrosis SYMP_0020062 [A musculoskeletal system symptom that is characterized by necrosis (i.e. tissue death) of soft tissue, including muscle, fat, blood vessels, nerves, tendons, and tissues that surround the bones and joints.]
neck weakness SYMP_0000335
neck symptom SYMP_0000384
muscle soreness SYMP_0000332
autosomal dominant nonsyndromic deafness 81 DOID_0070608 [An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ELMOD3 gene on chromosome 2p11.]
muscle tenderness SYMP_0000333
autosomal dominant nonsyndromic deafness 83 DOID_0070609 [An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13.]
obsolete joint derangement DOID_2279
mouth sore SYMP_0000330
autosomal dominant nonsyndromic deafness 87 DOID_0070606 [An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21.]
muscle ache SYMP_0000331 [A pain that is characterized by a continuous or prolonged dull pain.]