All terms in DOID

Label Id Description
primary coenzyme Q10 deficiency 6 DOID_0070243 [A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3.]
primary coenzyme Q10 deficiency 3 DOID_0070240 [A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21.]
primary coenzyme Q10 deficiency 4 DOID_0070241 [A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13.]
autosomal recessive Emery-Dreifuss muscular dystrophy 3 DOID_0070248 [An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.]
Emery-Dreifuss muscular dystrophy DOID_11726 [A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.]
autosomal dominant Emery-Dreifuss muscular dystrophy 4 DOID_0070249 [An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2.]
Mollusca NCBITaxon_6447
Lophotrochozoa NCBITaxon_1206795
X-linked Emery-Dreifuss muscular dystrophy 1 DOID_0070246 [An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.]
autosomal dominant Emery-Dreifuss muscular dystrophy 2 DOID_0070247 [An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.]
Gnathostomata <vertebrates> NCBITaxon_7776
Vertebrata <vertebrates> NCBITaxon_7742
primary coenzyme Q10 deficiency 7 DOID_0070244 [A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11.]
primary coenzyme Q10 deficiency 8 DOID_0070245 [A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3.]
eyebrow UBERON_0010163
collection of hair on face UBERON_0010165
collection of hairs on head or neck UBERON_0014382
collection of hairs UBERON_0010164
excretory system UBERON_8450002
anatomical collection UBERON_0034925