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unclassified Roseolovirus
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NCBITaxon_431037 |
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primary autosomal recessive microcephaly 14
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DOID_0070279 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.] |
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primary autosomal recessive microcephaly 15
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DOID_0070277 |
[A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.] |
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primary autosomal recessive microcephaly 7
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DOID_0070278 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33.] |
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primary coenzyme Q10 deficiency 5
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DOID_0070242 |
[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.] |
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coenzyme Q10 deficiency disease
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DOID_0050730 |
[A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.] |
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primary coenzyme Q10 deficiency 6
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DOID_0070243 |
[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3.] |
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primary coenzyme Q10 deficiency 3
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DOID_0070240 |
[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21.] |
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primary coenzyme Q10 deficiency 4
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DOID_0070241 |
[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13.] |
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autosomal recessive Emery-Dreifuss muscular dystrophy 3
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DOID_0070248 |
[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.] |
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Emery-Dreifuss muscular dystrophy
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DOID_11726 |
[A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.] |
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autosomal dominant Emery-Dreifuss muscular dystrophy 4
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DOID_0070249 |
[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2.] |
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Mollusca
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NCBITaxon_6447 |
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Lophotrochozoa
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NCBITaxon_1206795 |
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X-linked Emery-Dreifuss muscular dystrophy 1
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DOID_0070246 |
[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.] |
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autosomal dominant Emery-Dreifuss muscular dystrophy 2
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DOID_0070247 |
[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.] |
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Gnathostomata <vertebrates>
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NCBITaxon_7776 |
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Vertebrata <vertebrates>
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NCBITaxon_7742 |
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primary coenzyme Q10 deficiency 7
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DOID_0070244 |
[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11.] |
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primary coenzyme Q10 deficiency 8
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DOID_0070245 |
[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3.] |
