All terms in DOID

Label Id Description
epidermolysis bullosa simplex generalized type DOID_0080511 [An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy.]
Meier-Gorlin syndrome 1 DOID_0080512 [A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32.]
Meier-Gorlin syndrome 2 DOID_0080513 [A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23.]
Meier-Gorlin syndrome 3 DOID_0080514 [A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11.]
thalium CHEBI_30440 [A metallic element first identified and named from the brilliant green line in its flame spectrum (from Greek thetaalphalambdalambdaomicronsigma, a green shoot).]
epidermolysis bullosa simplex localized type DOID_0080510 [An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet.]
PAPA syndrome DOID_0080519 [A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.]
Meier-Gorlin syndrome 4 DOID_0080515 [A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24.]
Meier-Gorlin syndrome 5 DOID_0080516 [A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC6 gene on chromosome 17q21.]
Meier-Gorlin syndrome 6 DOID_0080517 [A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22.]
Meier-Gorlin syndrome 7 DOID_0080518 [A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11.]
Disc kidney HP_0034233
Crossed fused renal ectopia HP_0004736
cervix small cell carcinoma DOID_6740
bilateral breast cancer DOID_6741 [A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times.]
pulmonary neuroendocrine tumor DOID_5410
lung oat cell carcinoma DOID_5411
synchronous bilateral breast carcinoma DOID_6742
lung occult small cell carcinoma DOID_5414
obsolete recurrent small cell lung cancer DOID_5416