Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| Vibrio cholerae | NCBITaxon_666 | |
| Echinococcus | NCBITaxon_6209 | |
| cystic echinococcosis | DOID_1495 | [An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.] |
| retinitis pigmentosa 67 | DOID_0110359 | [A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32.] |
| obsolete eye and adnexa disease | DOID_1492 | [A sensory system disease that is located_in the eye or the adnexa of the eye.] |
| Ayme-Gripp syndrome | DOID_0111688 | [A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2.] |
| retinitis pigmentosa 35 | DOID_0110357 | [A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22.] |
| obsolete corneal anesthesia and hypoesthesia | DOID_1491 | |
| retinitis pigmentosa 12 | DOID_0110358 | [A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3.] |
| retinitis pigmentosa 32 | DOID_0110355 | [A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3.] |
| hereditary mixed polyposis syndrome 2 | DOID_0111686 | [A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in BMPR1A on chromosome 10q23.2.] |
| hereditary mixed polyposis syndrome | DOID_0111684 | [An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated.] |
| Potocki-Shaffer syndrome | DOID_0111687 | [A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.] |
| retinitis pigmentosa 18 | DOID_0110356 | [A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21.] |
| retinitis pigmentosa 20 | DOID_0110353 | [A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31.] |
| retinitis pigmentosa 19 | DOID_0110354 | [A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22.] |
| hereditary mixed polyposis syndrome 1 | DOID_0111685 | [A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1.] |
| Neorickettsia sennetsu | NCBITaxon_951 | |
| Neorickettsia | NCBITaxon_33993 | |
| retinitis pigmentosa 25 | DOID_0110384 | [A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12.] |