Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
primary bacterial infectious disease	DOID_0050338	[A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.]
Intellectual disability	HP_0001249	[Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.]
Neurodevelopmental abnormality	HP_0012759	[A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.]
annular pancreas	DOID_0060850	[A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis.]
pemphigus vulgaris	DOID_0060851	[A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance.]
pemphigus	DOID_9182
Pierson syndrome	DOID_0060852	[A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21.]
Potocki-Lupski syndrome	DOID_0060853	[A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2.]
autosomal recessive pseudohypoaldosteronism type 1	DOID_0060854	[A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.]
pseudohypoaldosteronism	DOID_4479
autosomal dominant pseudohypoaldosteronism type 1	DOID_0060855	[A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31.]
right atrial isomerism	DOID_0060856	[A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12.]
visceral heterotaxy	DOID_0050545	[A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.]
septooptic dysplasia	DOID_0060857	[A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14.]
autosomal genetic disease	DOID_0050739	[A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.]
autosomal inheritance	GENO_0000934	[An inheritance pattern wherein the trait is determined by alleles of a single causal gene on a non-sex chromosome.]
Plasmodium vivax	NCBITaxon_5855
Plasmodium (Plasmodium)	NCBITaxon_418103
chromophobe renal cell carcinoma	DOID_4471	[A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.]
renal cell carcinoma	DOID_4450	[A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.]