Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
otosclerosis	DOID_12185	[An otitis interna characterized by an abnormal bone growth in the middle ear.]
obsolete metastatic tumor to the colon	DOID_12189
splenic flexure cancer	DOID_12191
descending colon cancer	DOID_12190
punctate epithelial keratoconjunctivitis	DOID_12197
superficial keratitis	DOID_12196
sigmoid colon cancer	DOID_12192
Gadus	NCBITaxon_8048
Gadidae	NCBITaxon_8045
Cladophialophora bantiana	NCBITaxon_89940
maturity-onset diabetes of the young type 13	DOID_0111110	[A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.]
maturity-onset diabetes of the young	DOID_0050524	[A diabetes mellitus that has_material_basis_in mutations in the MODY genes disrupting insulin production.]
maturity-onset diabetes of the young type 14	DOID_0111111	[A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14.]
nephronophthisis 11	DOID_0111118	[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.]
nephronophthisis 12	DOID_0111119	[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24.]
nephronophthisis 7	DOID_0111116	[A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13.]
nephronophthisis-like nephropathy 1	DOID_0111117	[A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.]
nephronophthisis 3	DOID_0111114	[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22.]
nephronophthisis 4	DOID_0111115	[A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31.]
nephronophthisis 1	DOID_0111112	[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.]