Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| autosomal dominant nonsyndromic deafness 34 | DOID_0080270 | |
| nephrotic syndrome type 15 | DOID_0080271 | [A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21.] |
| eosinophilic meningitis | DOID_10361 | |
| acute apical periodontitis | DOID_11693 | |
| yellowish green diarrhea | SYMP_0000738 | |
| Galloway-Mowat syndrome 5 | DOID_0080247 | |
| Galloway-Mowat syndrome | DOID_0060364 | [A syndrome characterized_by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome.] |
| bronchopulmonary bleeding | SYMP_0000739 | |
| erythrokeratodermia variabilis et progressiva 2 | DOID_0080248 | |
| erythrokeratodermia variabilis | DOID_0050467 | [A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.] |
| lymph gland swelling | SYMP_0000736 | |
| erythrokeratodermia variabilis et progressiva 3 | DOID_0080249 | |
| respiratory tract mucosa ulcer | SYMP_0000737 | |
| amelogenesis imperfecta type 3B | DOID_0080243 | |
| suppurative pneumonia | SYMP_0000735 | |
| Galloway-Mowat syndrome 2 | DOID_0080244 | |
| sudden ataxis | SYMP_0000732 | |
| Galloway-Mowat syndrome 3 | DOID_0080245 | |
| sternocleidomastoid weakness | SYMP_0000733 | |
| Galloway-Mowat syndrome 4 | DOID_0080246 |