All terms in DOID

Label Id Description
Charcot-Marie-Tooth disease type 4J DOID_0110184 [A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.]
myringitis bullosa hemorrhagica DOID_13791 [A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.]
Charcot-Marie-Tooth disease type 4A DOID_0110185 [A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.]
acute tympanitis DOID_13790
Charcot-Marie-Tooth disease axonal type 2C DOID_0110182 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.]
Charcot-Marie-Tooth disease type 4C DOID_0110183 [A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.]
Charcot-Marie-Tooth disease axonal type 2CC DOID_0110180 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.]
Charcot-Marie-Tooth disease axonal type 2Z DOID_0110181 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12.]
female breast central part cancer DOID_13799 [A female breast cancer that is located_in the center of the breast.]
secondary hyperparathyroidism DOID_12466
secondary hyperparathyroidism of renal origin DOID_12465
prostatic cyst DOID_11133
Leber congenital amaurosis 14 DOID_0110188 [A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31.]
prolapse of lacrimal gland DOID_11134
Leber congenital amaurosis 15 DOID_0110189 [A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3.]
Charcot-Marie-Tooth disease type 4B2 DOID_0110190 [A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.]
capillariasis DOID_12474 [A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species.]
Charcot-Marie-Tooth disease axonal type 2O DOID_0110175 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.]
Charcot-Marie-Tooth disease axonal type 2X DOID_0110176 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.]
Charcot-Marie-Tooth disease axonal type 2U DOID_0110173 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13.]