All terms in HP

Label Id Description
Increased circulating IgE concentration HP_0003212 [An abnormally increased overall level of immunoglobulin E in blood.]
Oligoclonal elevated circulating IgE concentration HP_0032338 [An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.]
Monoclonal elevated circulating IgE concentration HP_0032337 [An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.]
Increased circulating specific IgE antibody concentration HP_0032336
Femoral artery duplication HP_0034998 [A developmental defect characterized by the presence of a supernumerary femoral artery.]
Abnormal femoral artery morphology HP_0035012 [Any structural abnormality of the femoral artey, a large blood vessel that provides oxygenated blood to lower extremity structures and in part to the lower anterior abdominal wall.]
Intracellular accumulation of collagen VII HP_0034999 [Collagen VII is the major molecular constituent of anchoring fibrils in the skin. Collagen VII is synthesized as three identical pro-alpha1(VII) polypeptide chains, which are hydroxylated and glycosylated in a coordinated manner and then fold into triple-helical procollagen VII in the endoplasmic reticulum (ER). Mature collagen VII undergoes a multistep fibril polymerization process to form the anchoring fibrils. Mutant pro-alpha1(VII) polypeptide chains or procollagen VII molecules do not pass the ER quality control and are retained in the ER or designated for ubiquitin-proteasome degradation resulting in reduced amounts of collagen VII in the skin.]
Asymmetric, linear skin defects HP_0007398
Axillary apocrine gland hypoplasia HP_0007397 [Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.]
Early cutaneous photosensitivity HP_0007396 [Photosensitivity of the skin occurring early in life.]
Postnatal-onset ichthyosiform erythroderma HP_0007395 [A type of ichthyosiform erythroderma with postnatal onset.]
Prominent superficial blood vessels HP_0007394
Shoulder abduction contracture HP_0034990
Shoulder external rotation contracture HP_0034991 [A type of shoulder contracture characterized by decreased internal rotation of shoulder, that is, by a chronic reduction in active and passive ability to internally rotate the humerus at the shoulder joint (if the arm is flexed at the elbow, Internal rotation of the shoulder rotates the forearm towards the center of the body).]
Thumb adduction contracture HP_0034992 [A type of thumb contracture characterized by a chronic reduction in active and passive ability of the metacarpal-phalangeal and/or interphalangeal joints of the thumb to bring from medial side to neutral position, where the neutral position for the thumb is when the distal and proximal segments of the thumb joint are in linear alignment.]
Hip internal rotation contracture HP_0034993 [The inability to rotate the proximal or upper limb segment laterally past anatomic neutral moving away from the midline, when viewed from anteriorly. Anatomic neutral position is defined as the trans-epicondylar axis of the distal humerus (for upper extremity) or femur (for lower extremity) is parallel to the sagittal plane of the body. This type of contracture is characterized by a turning of the knee from a neutral position to one facing more the midline, where the neutral position for the hip is with knee pointing directly anteriorly (less than or equal to 45 degrees).]
obsolete Elevated circulating saccharopine concentration HP_0034994
Reduced tissue fructose-1,6-bisphosphatase activity HP_0034995 [Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) below the lower limit of normal. The activity can be measured in multiple tissues including liver and leukocytes.]
Reduced hepatic carbamoylphosphate synthetase 1 activity HP_0034996 [Activity of carbamoylphosphate synthetase 1 in the liver below the lower limit of normal.]
Reduced intraepidermal small nerve fiber density HP_0034997 [Reduced number of small nerve fibers in the skin.]