All terms in HP

Label Id Description
Prolonged central motor conduction time HP_0034399 [Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation.]
Decreased CSF glycine concentration HP_0034390 [Abnormally decreased levels of glycine in cerebrospinal fluid.]
Abnormal CSF glycine concentration HP_0500229 [Any deviation from the normal concentration of glycine in the cerebrospinal fluid.]
Joint contracture HP_0034392 [A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.]
Abnormal tendon morphology HP_0100261 [An abnormality of the structure or form of the tendons, also often called sinews.]
Abnormality of joint mobility HP_0011729 [An abnormality in the range and ease of motion of joints across their normal range.]
Elbow extension contracture HP_0034393 [An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position.]
Forearm supination contracture HP_0034394 [A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.]
Forearm pronation contracture HP_0034395 [A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.]
Supravalvar pulmonary stenosis HP_0034349 [A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.]
Pulmonic stenosis HP_0001642 [A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).]
Curved 4th toe phalanx HP_0010374 [A deviation from the normal straight form of one or more phalanges of the fourth toe.]
Abnormality of the phalanges of the 4th toe HP_0010336
Pseudoautosomal recessive inheritance HP_0034341 [A type of pseudoautosomal inheritance that is recessive and in which biallelic males and females both manifest a disease phenotype.]
Pseudoautosomal inheritance HP_0034339 [A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes.]
Osteolytic defects of the phalanges of the 4th toe HP_0010375
Trapezius muscle aplasia HP_0034342 [A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax).]
positive regulation of vitamin metabolic process GO_0046136 [Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.]
regulation of vitamin metabolic process GO_0030656 [Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.]
Broad phalanges of the 4th toe HP_0010372