Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
multiple congenital anomalies-hypotonia-seizures syndrome 2	DOID_0080139	[A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22.]
louping ill	DOID_10250	[A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs.]
Louping ill virus	NCBITaxon_11086
Blurred vision	HP_0000622	[Lack of sharpness of vision resulting in the inability to see fine detail.]
Abnormality of vision	HP_0000504	[Abnormality of eyesight (visual perception).]
multiple mitochondrial dysfunctions syndrome 1	DOID_0080133	[A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13.]
multiple mitochondrial dysfunctions syndrome 2	DOID_0080134	[A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13.]
multiple mitochondrial dysfunctions syndrome 3	DOID_0080135	[A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42.]
multiple mitochondrial dysfunctions syndrome 4	DOID_0080136	[A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24.]
Riley-Day syndrome	DOID_11589
obsolete vitamin A deficiency	DOID_10257
obsolete conjunctival degenerations and deposits	DOID_10255
Erysipelotrichia	NCBITaxon_526524
Firmicutes	NCBITaxon_1239
breast capillary hemangioma	DOID_6491	[A breast hemangioma that is characterized by capillary-sized vessels.]
obsolete vitamin A deficiency with conjunctival xerosis	DOID_10256
arteriosclerosis obliterans	DOID_5160
strawberry gallbladder	DOID_10254
obsolete acute schizophrenic episode in remission	DOID_11584
rete testis adenoma	DOID_6483	[A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis.]