All terms in DOID

Label Id Description
obsolete adult malignant meningioma DOID_7026
obsolete single episode manic disease moderate degree DOID_13817
Charcot-Marie-Tooth disease X-linked dominant 1 DOID_0110209 [A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.]
pseudoglandular variant testicular seminoma DOID_8358
mucinous intrahepatic cholangiocarcinoma DOID_7024
Charcot-Marie-Tooth disease X-linked dominant 6 DOID_0110207 [A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22.]
paramyotonia congenita of Von Eulenburg DOID_0111538 [A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3.]
obsolete anaplastic malignant intracranial meningioma DOID_7025
Charcot-Marie-Tooth disease X-linked recessive 2 DOID_0110208 [A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2.]
parastremmatic dwarfism DOID_0111539 [An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.]
obsolete site specific early onset breast cancer syndrome DOID_7029
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 DOID_0111525 [A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3.]
parasitic eyelid infestation DOID_13823
Mullerian aplasia and hyperandrogenism DOID_0111526 [A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12.]
susceptibility to restless legs syndrome 8 MIM_615197
tetanic cataract DOID_13822 [A cataract resulting from hypocalcemia.]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 DOID_0111523 [A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21.]
Pericardial constriction HP_0005132
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 DOID_0111524 [A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2.]
obsolete congenital pneumonia DOID_13820