|
combined oxidative phosphorylation deficiency 39
|
DOID_0111475 |
[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3.] |
|
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.] |
|
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 the LYRM4 gene 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 the MAP2K1 gene on chromosome 15q22.31.] |
|
cardiofaciocutaneous syndrome
|
DOID_0060233 |
[A RASopathy 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 the MAPK2K2 gene on chromosome 19p13.3.] |
|
genitourinary system
|
UBERON_0004122 |
|
|
cardiofaciocutaneous syndrome 1
|
DOID_0111460 |
[A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.] |
|
cardiofaciocutaneous syndrome 2
|
DOID_0111461 |
[A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene 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 star 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.] |
|
Bardet-Biedl syndrome 15
|
DOID_0110137 |
[A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15.] |
|
combined oxidative phosphorylation deficiency 25
|
DOID_0111468 |
[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1.] |
|
Bardet-Biedl syndrome 16
|
DOID_0110138 |
[A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43.] |
|
combined oxidative phosphorylation deficiency 16
|
DOID_0111469 |
[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1.] |
