All terms in DOID

Label Id Description
spondyloepimetaphyseal dysplasia with joint laxity DOID_0112197 [A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.]
developmental and epileptic encephalopathy 72 DOID_0112208 [A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12.]
developmental and epileptic encephalopathy 71 DOID_0112207 [A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2.]
developmental and epileptic encephalopathy 70 DOID_0112206 [A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1.]
toluene 2,4-diisocyanate allergic asthma DOID_0040104 [A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate.]
toluene meta-diisocyanate allergic asthma DOID_0040043 [An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate.]
developmental and epileptic encephalopathy 69 DOID_0112205 [A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3.]
developmental and epileptic encephalopathy 68 DOID_0112204 [A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1.]
developmental and epileptic encephalopathy 67 DOID_0112203 [A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12.]
osteogenesis imperfecta type 21 DOID_0112201 [An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1.]
susceptibility to Graves disease 2 MIM_603388
cefotiam allergy DOID_0040103 [A cephalosporin allergy that has_allergic_trigger cefotiam.]
cephalosporin allergy DOID_0040021 [A drug allergy that has_allergic_trigger cephalosporin.]
N,N'-diethylthiourea allergic contact dermatitis DOID_0040102 [An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea.]
N,N'-diphenylthiourea allergic contact dermatitis DOID_0040101 [An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea.]
Hirata disease DOID_0040100 [An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin.]
autoimmune disease of endocrine system DOID_0060005 [An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system.]
developmental and epileptic encephalopathy 73 DOID_0112209 [A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1.]
susceptibility to neonatal pulmonary hypertension MIM_615371
developmental and epileptic encephalopathy 88 DOID_0112222 [A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15.]