Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| obsolete commensal Bacteroidaceae infectious disease | DOID_4106 | |
| intrahepatic bile duct adenoma | DOID_5437 | |
| intrahepatic bile duct | UBERON_0003704 | |
| tick infestation | DOID_4109 | [A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice.] |
| papillary hidradenoma | DOID_5439 | |
| ovarian dysgenesis 8 | DOID_0080500 | [A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23.] |
| Paget's disease of bone | DOID_5408 | [A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.] |
| GM1 gangliosidosis type 2 | DOID_0080501 | [A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age.] |
| GM1 gangliosidosis type 1 | DOID_0080502 | [A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death.] |
| nickel atom | CHEBI_28112 | [Chemical element (nickel group element atom) with atomic number 28.] |
| 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 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.] |
| obsolete recurrent childhood optic tract astrocytoma | DOID_6730 | |
| intrahepatic bile duct cystadenoma | DOID_6733 | |
| bile duct cystadenoma | DOID_5384 | [A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells.] |