All terms in DOID

Label Id Description
nickel atom CHEBI_28112
nickel group element atom CHEBI_33362
Cornelia de Lange syndrome 4 DOID_0080508 [A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.]
Cornelia de Lange syndrome 5 DOID_0080509 [A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13.]
Parkinson's disease 22 DOID_0080504 [A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2.]
Cornelia de Lange syndrome 1 DOID_0080505 [A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.]
Cornelia de Lange syndrome 2 DOID_0080506 [A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.]
Cornelia de Lange syndrome 3 DOID_0080507 [A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.]
Abnormal fetal genitourinary system morphology HP_0034242
obsolete recurrent childhood optic tract astrocytoma DOID_6730
intrahepatic bile duct cystadenoma DOID_6733 [A bile duct cystadenoma located_in an intrahepatic bile duct.]
bile duct cystadenoma DOID_5384 [A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells.]
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 adenoma DOID_5402 [A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin.]
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