All terms in DOID

Label Id Description
mitochondrial complex IV deficiency nuclear type 19 DOID_0070504 [A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23.]
mitochondrial complex IV deficiency nuclear type 16 DOID_0070501 [A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1.]
mitochondrial complex IV deficiency nuclear type 17 DOID_0070502 [A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33.]
obsolete malignant eyelid tumor DOID_2172
eyelid benign neoplasm DOID_2173
eyelid disease DOID_530 [An adnexa disease that is located_in the eyelid.]
mitochondrial complex IV deficiency nuclear type 15 DOID_0070500 [A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1.]
sensory system cancer DOID_0060116 [A nervous system cancer that is located in the sensory system.]
carbuncle DOID_2176
pyoderma DOID_4223 [A dermatitis that is characterized by a pyogenic infection causing the formation of pus.]
obsolete complications mainly related to pregnancy DOID_2177
Schinzel Giedion syndrome DOID_0070509 [An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3.]
obsolete diabetes mellitus insulin dependent type, uncontrolled, with ophthalmic manifestations DOID_2179
Abnormal respiratory system morphology HP_0012252
mitochondrial complex IV deficiency nuclear type 22 DOID_0070507 [A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2.]
metabolic dysfunction and alcohol associated liver disease DOID_0070508 [A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.]
steatotic liver disease DOID_9452 [A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.]
mitochondrial complex IV deficiency nuclear type 20 DOID_0070505 [A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2.]
mitochondrial complex IV deficiency nuclear type 21 DOID_0070506 [A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3.]
ischemia SYMP_0000209