All terms in DOID

Label Id Description
autosomal recessive nonsyndromic deafness 116 DOID_0112162 [An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3.]
Noonan syndrome 13 DOID_0112161 [A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase.]
autosomal dominant nonsyndromic deafness 79 DOID_0112160 [An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22.]
paronychia DOID_13117 [A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate.]
Noonan syndrome 11 DOID_0112169 [A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3.]
cholinergic urticaria DOID_14443 [A physical urticaria induced by sweating.]
physical urticaria DOID_0060220 [An urticaria induced by external physical influences.]
cicatricial entropion DOID_13113
autosomal dominant nonsyndromic deafness 77 DOID_0112168 [An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11.]
melphalan allergy DOID_0040066 [A drug allergy that has_allergic_trigger melphalan.]
quinidine allergy DOID_0040065 [A drug allergy that has_allergic_trigger quinidine.]
carvone allergic contact dermatitis DOID_0040064 [An allergic contact dermatitis that has_allergic_trigger (-)-carvone.]
4-vinylcyclohexene dioxide respiratory allergy DOID_0040063 [A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide.]
1-chloro-2,4-dinitrobenzene allergic contact dermatitis DOID_0040069 [An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene.]
4-tert-butylphenol allergic contact dermatitis DOID_0040068 [An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol.]
neomycin sulfate allergic contact dermatitis DOID_0040067 [An allergic contact dermatitis that has_allergic_trigger neomycin sulfate.]
Noonan syndrome 12 DOID_0112170 [A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2.]
chloramine T respiratory allergy DOID_0040062 [A respiratory allergy that has_allergic_trigger chloramine T.]
remazole black respiratory allergy DOID_0040061 [A respiratory allergy that has_allergic_trigger remazole black-GR.]
ketoprofen photoallergic dermatitis DOID_0040060 [A photoallergic dermatitis that has_allergic_trigger ketoprofen.]