All terms in DOID

Label Id Description
dystonia 35, childhood-onset DOID_0060955 [A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13.]
dystonia 37, early-onset with striatal lesions DOID_0060956 [A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21.]
anxiety SYMP_0000412 [A neurological and physiological symptom that is characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill.]
Anemia NCBITaxon_12939
Anemiaceae NCBITaxon_693766
Ullrich congenital muscular dystrophy 1A DOID_0060946 [An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22.]
Ullrich congenital muscular dystrophy DOID_0050558 [A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes.]
autosomal recessive intellectual developmental disorder 82 DOID_0060947 [An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12.]
hypoventilation SYMP_0000428 [A respiratory abnormality that is characterized by a deficient ventilation of the lungs that results in reduction in the oxygen content or increase in the carbon dioxide content of the blood or both.]
Ullrich congenital muscular dystrophy 2 DOID_0060948 [An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q.]
bradypnea SYMP_0000429 [A respiratory abnormality that is characterized by abnormally slow breathing.]
Cryptorchidism HP_0000028
Abnormal testis morphology HP_0000035
3-hydroxyisobutryl-CoA hydrolase deficiency DOID_0060949 [An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32.]
macrocytosis SYMP_0000426
Abnormal calvaria morphology HP_0002683
Abnormal skull morphology HP_0000929
sequence_feature SO_0000110
claudication SYMP_0000424 [A pain that is characterized by a leg pain in the calf, or thigh, which is caused by inadequate blood flow to the leg muscles and is brought on by leg exercise such as walking.]
reticulocytosis SYMP_0000425