All terms in DOID

Label Id Description
sublingual gland UBERON_0001832
lip UBERON_0001833
surface structure UBERON_0003102
upper lip UBERON_0001834
lower lip UBERON_0001835
cerebrotendinous xanthomatosis DOID_4810 [A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.]
adult brainstem gliosarcoma DOID_4812
obsolete metastatic lung carcinoma DOID_4828
adenosquamous lung carcinoma DOID_4829 [An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells.]
cortex UBERON_0001851
internal ear UBERON_0001846
vestibular labyrinth UBERON_0001862
autosomal recessive intellectual developmental disorder 18 DOID_0081190 [An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23.]
autosomal recessive intellectual developmental disorder 31 DOID_0081191 [An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838.]
autosomal recessive intellectual developmental disorder 23 DOID_0081196 [An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421.]
autosomal recessive intellectual developmental disorder 24 DOID_0081197 [An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668.]
Chlamydia pneumoniae NCBITaxon_83558
Chlamydia NCBITaxon_810
autosomal recessive intellectual developmental disorder 25 DOID_0081198 [An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033.]
autosomal recessive intellectual developmental disorder 28 DOID_0081199 [An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609.]