Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete Majewski syndrome	DOID_0050550
hemopneumothorax	DOID_2718	[A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity.]
JMP syndrome	DOID_0050553	[A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32.]
hereditary spastic paraplegia 37	DOID_0110788	[A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3.]
hereditary spastic paraplegia 38	DOID_0110789	[A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15.]
hereditary spastic paraplegia 35	DOID_0110786	[A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1.]
hereditary spastic paraplegia 36	DOID_0110787	[A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24.]
hereditary spastic paraplegia 33	DOID_0110784	[A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24.]
hereditary spastic paraplegia 34	DOID_0110785	[A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25.]
hereditary spastic paraplegia 31	DOID_0110782	[A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11.]
hereditary spastic paraplegia 32	DOID_0110783	[A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21.]
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.]
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.]
Ullrich congenital muscular dystrophy	DOID_0050558	[A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen.]
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.]