All terms in HP

Label Id Description
Growth abnormality HP_0001507
Delayed epiphyseal ossification HP_0002663
Abnormal epiphyseal ossification HP_0010656 [An abnormality of the formation and mineralization of an epiphysis.]
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.]
Abnormality of the female genitalia HP_0010460 [Abnormality of the female genital system.]
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (human) PR_Q10469 [An alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase that is encoded in the genome of human.]
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase PR_000010379 [A protein that is a translation product of the human MGAT2 gene or a 1:1 ortholog thereof.]
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 renal corpuscle morphology HP_0031263 [Any anomalous 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.]
Glomerular sclerosis 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.]
Abnormal nephron morphology HP_0012575 [A structural anomaly of the nephron.]
Renal 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.]
Abnormal renal tubular epithelial morphology HP_0032599 [Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.]
Proteinuria HP_0000093 [Increased levels of protein in the urine.]