All terms in DOID

Label Id Description
hereditary spastic paraplegia 31 DOID_0110782 [A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11.]
Reduced consciousness HP_0004372
epidermolytic hyperkeratosis 2B DOID_0061208 [An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases that has_material_basis_in homozygous mutation in the KRT10 geneon chromosome 17q21.]
hereditary spastic paraplegia 32 DOID_0110783 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21.]
branchiootic syndrome 1 DOID_0061209 [A branchiootic syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.]
branchiootic syndrome DOID_0060232 [A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.]
Bethlem myopathy 1C DOID_0061200 [A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37.]
Bethlem myopathy DOID_0050663 [A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly.]
Bethlem myopathy 2 DOID_0061201 [A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q.]
X-linked sideroblastic anemia with ataxia DOID_0050554 [A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.]
susceptibility to celiac disease 1 MIM_212750
obsolete infantile onset spinocerebellar ataxia DOID_0050556 [An autosomal recessive cerebellar ataxia that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment, has_material_basis_in mutation in the TWNK gene that affects mitochondrial function.]
Fukuyama congenital muscular dystrophy DOID_0050559 [A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.]
sick building syndrome DOID_2710 [An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building.]
obsolete port-wine stain DOID_2724
hereditary spastic paraplegia 17 DOID_0110770 [A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.]
obsolete acne nevus DOID_2726
Charcot-Marie-Tooth disease type 3 DOID_0050540 [A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.]
obsolete Pilosebaceous hamartoma DOID_2728
hereditary spastic paraplegia 26 DOID_0110777 [A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13.]