All terms in DOID

Label Id Description
Charcot-Marie-Tooth disease axonal type 2L DOID_0110174 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.]
bladder organ UBERON_0018707
Charcot-Marie-Tooth disease axonal type 2S DOID_0110171 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.]
obsolete Charcot-Marie-Tooth disease axonal type 2G DOID_0110172
Charcot-Marie-Tooth disease axonal type 2Q DOID_0110170 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.]
hypersecretion glaucoma DOID_11148 [A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow.]
aqueous misdirection DOID_11149 [A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity.]
Charcot-Marie-Tooth disease type 2B2 DOID_0110179 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene.]
obsolete vascular lesions of cord complicating labor and delivery DOID_11147
obsolete anthrax septicemia DOID_11144
Charcot-Marie-Tooth disease axonal type 2N DOID_0110177 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.]
obsolete Pars plana primary cyst DOID_11145
pes anserinus bursitis DOID_12475 [A bursitis that is characterized by inflammation of the bursal sac beneath the pes anserinus, resulting in: medial knee pain.]
Charcot-Marie-Tooth disease axonal type 2V DOID_0110178 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.]
alimentary part of gastrointestinal system UBERON_0005409
miliaria rubra DOID_11153 [A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction.]
cholecystolithiasis DOID_11151
obsolete glaucoma due to raised episcleral venous pressure DOID_11150
follicular dendritic cell CL_0000442
obsolete disorder of optic chiasm associated with non-pituitary neoplasm DOID_11158