|
mitochondrial complex IV deficiency nuclear type 10
|
DOID_0070496 |
[A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12.] |
|
mitochondrial complex IV deficiency nuclear type 4
|
DOID_0070493 |
[A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1.] |
|
Eucarida
|
NCBITaxon_6682 |
|
|
mitochondrial complex IV deficiency nuclear type 7
|
DOID_0070494 |
[A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12.] |
|
Dendrobranchiata
|
NCBITaxon_6684 |
|
|
mitochondrial complex IV deficiency nuclear type 1
|
DOID_0070491 |
[A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2.] |
|
Malacostraca
|
NCBITaxon_6681 |
|
|
Multicrustacea
|
NCBITaxon_2172821 |
|
|
mitochondrial complex IV deficiency nuclear type 3
|
DOID_0070492 |
[A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12.] |
|
Eumalacostraca
|
NCBITaxon_72041 |
|
|
infantile parkinsonism-dystonia 2
|
DOID_0070490 |
[A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3.] |
|
mitochondrial complex IV deficiency nuclear type 14
|
DOID_0070499 |
[A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2.] |
|
mitochondrial complex IV deficiency nuclear type 11
|
DOID_0070497 |
[A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44.] |
|
mitochondrial complex IV deficiency nuclear type 12
|
DOID_0070498 |
[A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2.] |
|
agammaglobulinemia 9
|
DOID_0081141 |
[An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21.] |
|
agammaglobulinemia 10
|
DOID_0081142 |
[An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system, and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11.] |
|
Abnormal midface morphology
|
HP_0000309 |
|
|
agammaglobulinemia 8B
|
DOID_0081143 |
[An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13.] |
|
common variable immunodeficiency 1
|
DOID_0081144 |
[A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33.] |
|
agammaglobulinemia 8A
|
DOID_0081140 |
[An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13.] |
