|
Bartter disease
|
DOID_445 |
|
|
combined oxidative phosphorylation deficiency 5
|
DOID_0111473 |
[A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23.] |
|
Bartter disease type 2
|
DOID_0110143 |
[A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.] |
|
combined oxidative phosphorylation deficiency 1
|
DOID_0111474 |
[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32.] |
|
combined oxidative phosphorylation deficiency 30
|
DOID_0111471 |
[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3.] |
|
Bardet-Biedl syndrome 18
|
DOID_0110140 |
[A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25.] |
|
combined oxidative phosphorylation deficiency 9
|
DOID_0111472 |
[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1.] |
|
Bardet-Biedl syndrome 19
|
DOID_0110141 |
[A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12.] |
|
combined oxidative phosphorylation deficiency 28
|
DOID_0111470 |
[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1.] |
|
Enterovirus B
|
NCBITaxon_138949 |
|
|
African tick-bite fever
|
DOID_0050035 |
[A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.] |
|
pharyngeal pouch
|
UBERON_0004117 |
|
|
endoderm of foregut
|
UBERON_0003258 |
|
|
Charcot-Marie-Tooth disease type 1A
|
DOID_0110148 |
[A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).] |
|
combined oxidative phosphorylation deficiency 8
|
DOID_0111479 |
[A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1.] |
|
Charcot-Marie-Tooth disease type 1F
|
DOID_0110149 |
[A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene.] |
|
Bartter disease type 4b
|
DOID_0110146 |
[A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes.] |
|
combined oxidative phosphorylation deficiency 14
|
DOID_0111477 |
[A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1.] |
|
Bartter disease type 5
|
DOID_0110147 |
[A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11.] |
|
combined oxidative phosphorylation deficiency 20
|
DOID_0111478 |
[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33.] |
