All terms in DOID

Label Id Description
autosomal dominant distal hereditary motor neuronopathy 3 DOID_0111207 [An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23.]
obsolete susceptibility to autism 18 MIM_615032
obsolete distal hereditary motor neuronopathy type 5A DOID_0111204 [A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3.]
autosomal dominant distal hereditary motor neuronopathy 12 DOID_0111205 [An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2.]
autosomal dominant distal hereditary motor neuronopathy 14 DOID_0111202 [An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1.]
autosomal dominant distal hereditary motor neuronopathy 5 DOID_0111203 [An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.]
autosomal dominant distal hereditary motor neuronopathy 1 DOID_0111200 [An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF.]
obsolete distal hereditary motor neuronopathy type 7A DOID_0111201 [A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3.]
limb endochondral element UBERON_0015061
obsolete distal hereditary motor neuronopathy type 2A DOID_0111208 [A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23.]
autosomal dominant distal hereditary motor neuronopathy 4 DOID_0111209 [A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2.]
quinoline alkaloid CHEBI_26509
congenital muscular dystrophy-dystroglycanopathy type A8 DOID_0111231 [A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.]
congenital muscular dystrophy-dystroglycanopathy type A DOID_0111229 [A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing.]
congenital muscular dystrophy-dystroglycanopathy type A9 DOID_0111232 [A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.]
congenital muscular dystrophy-dystroglycanopathy type A11 DOID_0111230 [A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.]
congenital muscular dystrophy-dystroglycanopathy type A10 DOID_0111239 [A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.]
congenital muscular dystrophy-dystroglycanopathy type A1 DOID_0111237 [A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.]
congenital muscular dystrophy-dystroglycanopathy type A13 DOID_0111238 [A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.]
congenital muscular dystrophy-dystroglycanopathy type A12 DOID_0111235 [A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.]