Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Multicystic kidney dysplasia	HP_0000003	[Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.]
Pheochromocytoma	HP_0002666	[Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.]
Neuroendocrine neoplasm	HP_0100634	[A tumor that originates from a neuroendocrine cell.]
Mode of inheritance	HP_0000005	[The pattern in which a particular genetic trait or disorder is passed from one generation to the next.]
Nephroblastoma	HP_0002667	[The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.]
Autosomal dominant inheritance	HP_0000006	[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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.]
probable C-C chemokine receptor type 3 (mouse)	PR_P51678	[A C-C chemokine receptor type 3 that is encoded in the genome of mouse.]
C-C chemokine receptor type 3	PR_000001255	[A chemokine receptor CCR1/3/1L that is a translation product of the human CCR3 gene or a 1:1 ortholog thereof.]
Ccr3 (mouse)	MGI:104616	[A protein coding gene Ccr3 in mouse.]
Painless fractures due to injury	HP_0002661	[An increased tendency to fractures following trauma, with fractures occurring without pain.]
Abnormality of pain sensation	HP_0010832	[Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.]
Neoplasm	HP_0002664	[An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).]
Abnormality of body height	HP_0000002	[Deviation from the norm of height with respect to that which is expected according to age and gender norms.]
Growth abnormality	HP_0001507
Delayed epiphyseal ossification	HP_0002663
Abnormal epiphyseal ossification	HP_0010656	[An abnormality of the formation and mineralization of an epiphysis.]
C-C chemokine receptor type 3 (human)	PR_P51677	[A C-C chemokine receptor type 3 that is encoded in the genome of human.]
CCR3 (human)	gene_symbol_report	[A protein coding gene CCR3 in human.]
C-C chemokine receptor type 1 (mouse)	PR_P51675	[A C-C chemokine receptor type 1 that is encoded in the genome of mouse.]
C-C chemokine receptor type 1	PR_000001254	[A chemokine receptor CCR1/3/1L that is a translation product of the human CCR1 gene or a 1:1 ortholog thereof.]