Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| combined oxidative phosphorylation deficiency 20 | DOID_0111478 | [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in VARS2 on chromosome 6p21.33.] |
| Bartter disease type 5 | DOID_0110147 | [A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11.] |
| Bartter disease type 3 | DOID_0110144 | [A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36.] |
| combined oxidative phosphorylation deficiency 39 | DOID_0111475 | [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM2 on chromosome 5q13.3.] |
| Bartter disease type 4a | DOID_0110145 | [A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32.] |
| combined oxidative phosphorylation deficiency 19 | DOID_0111476 | [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in LYRM4 on chromosome 6p25.1.] |
| Bardet-Biedl syndrome 9 | DOID_0110131 | [A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14.] |
| cardiofaciocutaneous syndrome 3 | DOID_0111462 | [A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in MAP2K1 on chromosome 15q22.31.] |
| cardiofaciocutaneous syndrome | DOID_0060233 | [A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.] |
| Bardet-Biedl syndrome 10 | DOID_0110132 | [A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21.] |
| cardiofaciocutaneous syndrome 4 | DOID_0111463 | [A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in MAPK2K2 on chromosome 19p13.3.] |
| genitourinary system | UBERON_0004122 | |
| cardiofaciocutaneous syndrome 1 | DOID_0111460 | [A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in BRAF on chromosome 7q34.] |
| cardiofaciocutaneous syndrome 2 | DOID_0111461 | [A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in KRAS on chromosome 12p12.1.] |
| Bardet-Biedl syndrome 8 | DOID_0110130 | [A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31.] |
| human granulocytic anaplasmosis | DOID_0050025 | [An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone start tick (Amblyomma americanum ). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash.] |
| obsolete Ehrlichia ewingii ehrlichiosis | DOID_0050024 | |
| Bardet-Biedl syndrome 17 | DOID_0110139 | [A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21.] |
| combined oxidative phosphorylation deficiency 25 | DOID_0111468 | [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MARS2 on chromosome 2q33.1.] |
| Bardet-Biedl syndrome 15 | DOID_0110137 | [A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15.] |