All terms in HP

Label Id Description
Aplasia/Hypoplasia of the cervical spine HP_0011041 [Aplasia or developmental hypoplasia of the cervical vertebral column.]
Occupational exposure history HP_0035010 [Exposure to a substance that results from the performance of an employee's duties.]
Occupational silver exposure HP_0035011 [A history of exposure to silver that has occurred in relation to performance of job duties.]
Abnormal amyloid beta 40 peptide CSF concentration HP_0025686 [Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form.]
Abnormal amyloid beta peptide CSF concentration HP_0025688 [Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid.]
Increased amyloid beta 40 peptide CSF concentration HP_0025687 [An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).]
Decreased amyloid beta 42 peptide CSF concentration HP_0025684 [A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).]
Abnormal amyloid beta 42 peptide CSF concentration HP_0025683 [Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.]
Increased amyloid beta 42 peptide CSF concentration HP_0025685 [An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).]
Extra-abdominal umbilical vein varix HP_0025689 [Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth.]
Shoulder adduction contracture HP_0035009 [A type of shoulder contracture characterized by a chronic reduction in the active and passive ability to abduct the shoulder. This results in the shoulders being closer to midline. The affected individual is not able to position the shoulders away from the body.]
Crouch gait HP_0025682 [A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase.]
Compound muscle action potential amplitude facilitation HP_0025680 [Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction.]
Distal clavicular thinning HP_0025681 [Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region.]
Thin clavicles HP_0006645 [Abnormally reduced diameter (cross section) of the clavicles.]
Agenesis of first permanent molar tooth HP_0011056 [Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.]
Agenesis of permanent molar HP_0011055 [Agenesis of secondary molar tooth.]
Reduced lamina lucida anchoring filament density HP_0035001 [Diminished amount of the anchoring filaments that normally bridge the lamina lucida and insert into the lamina densa in the cutaneous basement membrane zone.]
Agenesis of second permanent molar HP_0011057 [Agenesis of either mandibular second permanent molar or maxillary second permanent molar.]
Reduced epidermal keratin 5 protein expression HP_0035002 [Amount of keratin 5 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.]