Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Ccr1 (mouse)	MGI:104618	[A protein coding gene Ccr1 in mouse.]
Autosomal recessive inheritance	HP_0000007	[A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).]
Osteosarcoma	HP_0002669	[A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.]
Sarcoma	HP_0100242	[A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.]
Tall stature	HP_0000098	[A height above that which is expected according to age and gender norms.]
Glomerulonephritis	HP_0000099	[Inflammation of the renal glomeruli.]
Abnormal nephron morphology	HP_0012575	[A structural anomaly of the nephron.]
Abnormal renal corpuscle morphology	HP_0031263	[Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.]
Glomerulosclerosis	HP_0000096	[Accumulation of scar tissue within the glomerulus.]
Focal segmental glomerulosclerosis	HP_0000097	[Segmental accumulation of scar tissue in individual (but not all) glomeruli.]
Nephronophthisis	HP_0000090	[Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.]
Abnormal renal tubule morphology	HP_0000091	[An abnormality of the renal tubules.]
Tubular atrophy	HP_0000092	[The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.]
Proteinuria	HP_0000093	[Increased levels of protein in the urine.]
Abnormal urine protein level	HP_0020129	[Any deviation of the concentration of one or more proteins in the urine.]
Abnormality of central motor conduction	HP_0012079	[Any anomaly of the conduction of motor nerve impulses in the central nervous system.]
Motor conduction block	HP_0012078	[Blockade of impulses at a focal site along the course of a motor axon.]
Decreased nerve conduction velocity	HP_0000762	[A reduction in the speed at which electrical signals propagate along the axon of a neuron.]
Abnormal motor nerve conduction velocity	HP_0040131
Histrionic personality disorder	HP_0012077	[A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention.]