Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| Joubert syndrome 21 | DOID_0110990 | [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13.] |
| benign familial infantile epilepsy | DOID_0060169 | [An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.] |
| histidinemia | DOID_0060168 | [A histidine metabolism disease characterized by a deficiency of the enzyme histidase.] |
| Joubert syndrome 28 | DOID_0110997 | [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.] |
| Joubert syndrome 3 | DOID_0110998 | [A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3.] |
| gynatresia | DOID_429 | [A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina.] |
| Joubert syndrome 26 | DOID_0110995 | [A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12.] |
| Joubert syndrome 27 | DOID_0110996 | [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.] |
| Joubert syndrome 24 | DOID_0110993 | [A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24.] |
| obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites | DOID_9142 | |
| Joubert syndrome 25 | DOID_0110994 | [A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.] |
| obsolete Herpes simplex virus meningoencephalitis | DOID_9141 | [A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage.] |
| Joubert syndrome 22 | DOID_0110991 | [A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37.] |
| xeroderma of eyelid | DOID_9140 | |
| noninfectious dermatoses of eyelid | DOID_1894 | |
| Joubert syndrome 23 | DOID_0110992 | [A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23.] |
| digestive tract epithelium | UBERON_0003929 | |
| liver carcinoma in situ | DOID_9132 | [An in situ carcinoma that is located_in the liver.] |
| obsolete certain conditions originating in the perinatal period | DOID_425 | |
| stomach carcinoma in situ | DOID_9138 | [An in situ carcinoma that is located_in the stomach.] |