Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
distal spinal muscular atrophy type 4	DOID_0111213	[An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31.]
distal spinal muscular atrophy type 5	DOID_0111214	[A autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35.]
distal spinal muscular atrophy type 3	DOID_0111211	[An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3.]
distal hereditary motor neuronopathy type 9	DOID_0111212	[An autosomal domiant distal hereditary motor neuronopathy characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in WARS on 14q32.2.]
Friedreich ataxia 2	DOID_0111219	[A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region.]
distal hereditary motor neuropathy type 2B	DOID_0111207	[A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB1 on 7q11.23.]
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.]
distal hereditary motor neuronopathy type 5	DOID_0111203	[An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences.]
distal hereditary motor neuronopathy type 5B	DOID_0111205	[A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in REEP1 on 2p11.2.]
distal hereditary motor neuronopathy type 7B	DOID_0111202	[A distal hereditary motor neuropathy type 7 that has_material_basis_in heterozygous mutation in DCTN1 on 2p13.1.]
distal hereditary motor neuronopathy type 1	DOID_0111200	[An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has_material_basis_in heterozygous mutation in locus in the 7q34-q36 chromosome region.]
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
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.]
distal hereditary motor neuronopathy type 2C	DOID_0111209	[A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB3 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 type A 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.]