Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Abnormal choroid morphology	HP_0000610	[Any structural abnormality of the choroid.]
Abnormality of the uvea	HP_0000553	[An abnormality of the uvea, the vascular layer of the eyeball.]
mitochondrial DNA depletion syndrome 9	DOID_0080128	[A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11.]
Metabolic acidosis	HP_0001942	[Acid accumulation or depletion of base in the body due to buildup of metabolic acids.]
mitochondrial DNA depletion syndrome 11	DOID_0080129	[A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11.]
mitochondrial DNA depletion syndrome 4a	DOID_0080122	[A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26.]
mitochondrial DNA depletion syndrome 4b	DOID_0080123	[A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26.]
mitochondrial DNA depletion syndrome 5	DOID_0080124	[A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14.]
mitochondrial DNA depletion syndrome 6	DOID_0080125	[A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23.]
obsolete Escherichia coli meningitis	DOID_11578
pleurisy	DOID_10247	[A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.]
Cauda equina syndrome	DOID_11577	[A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord.]
obsolete delayed separation of umbilical cord	DOID_10245
obsolete pneumococcal meningitis	DOID_11575
streptococcal meningitis	DOID_11574	[A bacterial meningitis that has_material_basis_in streptococcal bacteria.]
ehrlichiosis	DOID_10242	[A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.]
Ehrlichia chaffeensis	NCBITaxon_945
Anaplasma phagocytophilum	NCBITaxon_948
listeriosis	DOID_11573	[A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth.]
Listeria monocytogenes	NCBITaxon_1639