Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| autosomal recessive spinocerebellar ataxia 11 | DOID_0080063 | |
| autosomal recessive spinocerebellar ataxia 17 | DOID_0080064 | |
| autosomal recessive spinocerebellar ataxia 19 | DOID_0080065 | |
| autosomal recessive spinocerebellar ataxia 20 | DOID_0080066 | |
| autosomal recessive spinocerebellar ataxia 12 | DOID_0080060 | |
| autosomal recessive spinocerebellar ataxia 2 | DOID_0080061 | [An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34.] |
| autosomal recessive spinocerebellar ataxia 13 | DOID_0080062 | |
| hypophosphatemic nephrolithiasis/osteoporosis 2 | DOID_0080078 | |
| impaired renal function disease | DOID_11705 | |
| nonsyndromic congenital nail disorder 1 | DOID_0080079 | |
| hernia of ovary and fallopian tube | DOID_12735 | [A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abominal wall.] |
| obsolete diphtheritic laryngotracheitis | DOID_11404 | [A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough.] |
| serous cavity | UBERON_0035809 | |
| obsolete depressive state induced by drug | DOID_11403 | |
| hypercementosis | DOID_12733 | |
| intermediate uveitis | DOID_12732 | |
| uveitis | DOID_13141 | [A uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.] |
| xanthogranulomatous pyelonephritis | DOID_11401 | |
| pars planitis | DOID_12731 | |
| chorioretinitis | DOID_8886 |