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common variable immunodeficiency 5
|
DOID_0081148 |
[A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13.] |
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mitochondrial complex IV deficiency nuclear type 8
|
DOID_0070495 |
[A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3.] |
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COX deficiency, benign infantile mitochondrial myopathy
|
DOID_0081377 |
[A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.] |
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Penaeoidea
|
NCBITaxon_111520 |
|
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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.] |
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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.] |
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Eucarida
|
NCBITaxon_6682 |
|
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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.] |
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Dendrobranchiata
|
NCBITaxon_6684 |
|
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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.] |
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Malacostraca
|
NCBITaxon_6681 |
|
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Multicrustacea
|
NCBITaxon_2172821 |
|
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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.] |
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Eumalacostraca
|
NCBITaxon_72041 |
|
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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.] |
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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.] |
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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.] |
