Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| DIC in newborn | DOID_11246 | |
| anemia of prematurity | DOID_11243 | |
| Abnormal atrioventricular valve physiology | HP_0031650 | [Any functional defect of the mitral or tricuspid valve.] |
| orthostatic proteinuria | DOID_9617 | |
| anterior scleritis | DOID_13794 | |
| Charcot-Marie-Tooth disease type 4D | DOID_0110186 | [A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.] |
| Charcot-Marie-Tooth disease type 4 | DOID_0050541 | [A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.] |
| Charcot-Marie-Tooth disease type 4K | DOID_0110187 | [A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.] |
| Charcot-Marie-Tooth disease type 4J | DOID_0110184 | [A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.] |
| myringitis bullosa hemorrhagica | DOID_13791 | [A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.] |
| Charcot-Marie-Tooth disease type 4A | DOID_0110185 | [A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.] |
| acute tympanitis | DOID_13790 | |
| Charcot-Marie-Tooth disease axonal type 2C | DOID_0110182 | [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.] |
| Charcot-Marie-Tooth disease type 4C | DOID_0110183 | [A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.] |
| Charcot-Marie-Tooth disease axonal type 2CC | DOID_0110180 | [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.] |
| Charcot-Marie-Tooth disease axonal type 2Z | DOID_0110181 | [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12.] |
| female breast central part cancer | DOID_13799 | [A female breast cancer that is located_in the center of the breast.] |
| secondary hyperparathyroidism | DOID_12466 | |
| secondary hyperparathyroidism of renal origin | DOID_12465 | |
| prostatic cyst | DOID_11133 |