Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
water-clear cell adenoma	DOID_5401	[An adenoma that derives_from epithelial cells which have clear cytoplasm.]
obsolete trabecular adenoma	DOID_5400
obsolete recurrent glioma of childhood visual pathway	DOID_6731
microcystic adenoma	DOID_5403	[A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells.]
vaginal benign neoplasm	DOID_0060114	[A female reproductive organ benign neoplasm that is located_in the vagina.]
obsolete atypical adenoma	DOID_5404
schwannoma of jugular foramen	DOID_6735
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.]
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 characterised 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 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.]
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