All terms in HP

Label Id Description
Digital flexor tenosynovitis HP_0012276 [Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.]
Tenosynovitis HP_6001438 [Inflammation of the synovial sheath that surrounds a tendon.]
Autosomal dominant inheritance with maternal imprinting HP_0012275 [A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.]
Imprinted HP_0034338 [Requires that the abnormal allele be paternal or maternal in origin, depending on the disease-gene relationship. Imprinting refers to a normal developmental process in which either the paternal or maternal allele is inactivated, depending on the specific locus, thus leading to expression from only one copy of the gene. Disease typically manifests when a deleterious variant is inherited from a parent whose copy of the gene would normally be expressed, but not when a deleterious variant is inherited from a parent whose copy of the gene would normally be inactivated.]
Hyposerinemia HP_0012279 [Reduced concentration of serine in the blood.]
Decreased muscle glycogen content HP_0012270 [A decreased amount of glycogen in muscle tissue.]
Autosomal dominant inheritance with paternal imprinting HP_0012274 [A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing.]
Increased carotid artery intimal medial thickness HP_0012273 [An increase in the combined thickness of the intima and media of the carotid artery.]
J wave HP_0012272 [The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.]
Episodic upper airway obstruction HP_0012271 [Intermittent episodes of increased resistance to the passage of air in the upper airway.]
Facial neoplasm HP_0012289 [A tumor (abnormal growth of tissue) of the face.]
Hypothalamic luteinizing hormone-releasing hormone deficiency HP_0012287 [Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.]
Abnormal hypothalamus physiology HP_0012285 [An abnormal functionality of the hypothalamus.]
Abnormal diencephalon morphology HP_0010662 [An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.]
Chylous ascites HP_0012281 [Extravasation of chyle into the peritoneal cavity.]
Ascites HP_0001541 [Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).]
Hepatic amyloidosis HP_0012280 [A form of amyloidosis that affects the liver.]
Abnormality of the hypothalamus-pituitary axis HP_0000864 [Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.]
Small proximal tibial epiphyses HP_0012284 [Reduced size of the proximal epiphysis of the tibia.]
Small epiphyses HP_0010585 [Reduction in the size or volume of epiphyses.]