All terms in DOID

Label Id Description
cataract 18 DOID_0110238 [A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3.]
autosomal dominant vitreoretinochoroidopathy DOID_0111569 [A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3.]
Stegomyia NCBITaxon_53541
Aedes <genus> NCBITaxon_7158
cataract 12 multiple types DOID_0110239 [A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.]
retinal vasculopathy with cerebral leukodystrophy DOID_0111567 [A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31.]
cataract 39 multiple types DOID_0110236 [A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34.]
congenital vertical talus DOID_0111568 [A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1.]
cataract 42 DOID_0110237 [A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.]
trichodontoosseous syndrome DOID_0111565 [A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33.]
cataract 4 multiple types DOID_0110234 [A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.]
cataract 2 multiple types DOID_0110235 [A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33.]
familial isolated trichomegaly DOID_0111566 [An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21.]
cataract 29 DOID_0110232 [A cataract that has_material_basis_in variation in the region 2pter-p24.]
Sturge-Weber syndrome DOID_0111563 [A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.]
cataract 27 DOID_0110233 [A cataract that has_material_basis_in mutation in the region 2p12.]
hypoplastic or aplastic tibia with polydactyly DOID_0111564 [A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3.]
obsolete tracheobronchial tuberculosis DOID_0050151 [A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever.]
distal arthrogryposis type 5D DOID_0111594 [A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1.]
cataract 19 multiple types DOID_0110263 [A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13.]