All terms in DOID

Label Id Description
combined malonic and methylmalonic acidemia DOID_0111263 [An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.]
phosphoribosylpyrophosphate synthetase superactivity DOID_0111260 [An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset.]
fumarase deficiency DOID_0111261 [An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.]
anal margin squamous cell carcinoma DOID_12239
bile reflux DOID_12237 [A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus.]
autosomal recessive hyaline body myopathy DOID_0111268 [A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2.]
hyaline body myopathy DOID_0111267 [A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2.]
tibial collateral ligament bursitis DOID_13566
autosomal dominant hyaline body myopathy DOID_0111269 [A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2.]
neuroaspergillosis DOID_13565 [An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion.]
cascade stomach DOID_12234
geroderma osteodysplasticum DOID_0111266 [A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2.]
susceptibility to essential hypertension 2 MIM_604329
obsolete refraction or accommodation disorder DOID_9836
dermatitis herpetiformis DOID_8505
hyperopia DOID_9834 [A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back.]
impetigo herpetiformis DOID_8503 [An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.]
subcorneal pustular dermatosis DOID_8508
accommodative esotropia DOID_9839
cyclotropia DOID_9838