All terms in HP

Label Id Description
bona-fide anatomical boundary UBERON_0010199 [An anatomical boundary that corresponds to some physical discontinuity.]
Spondyloepiphyseal dysplasia HP_0002655 [A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).]
Skeletal dysplasia HP_0002652 [A general term describing features characterized by abnormal development of bones and connective tissues.]
Multiple epiphyseal dysplasia HP_0002654
Spondylometaphyseal dysplasia HP_0002657
Epiphyseal dysplasia HP_0002656
Spondyloepimetaphyseal dysplasia HP_0002651
Bone pain HP_0002653 [An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.]
soft tissue tumor MPATH_404 [Neoplasms of the soft and connective tissues.]
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.]
Mendelian inheritance HP_0034345 [A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel.]
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 (tumor).]
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.]