- Abnormality of the lower limb (HP:0002814, a Human Phenotype Ontology term): An abnormality of the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90307)
- Arteriovenous malformation (HP:0100026, a Human Phenotype Ontology term): An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90307)
- High-output congestive heart failure (HP:0001722, a Human Phenotype Ontology term): A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Vascular dilatation (HP:0002617, a Human Phenotype Ontology term): An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Varicose veins (HP:0002619, a Human Phenotype Ontology term): Enlarged and tortuous veins. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Arteriovenous fistula (HP:0004947, a Human Phenotype Ontology term): An abnormal connection between an artery and vein. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Vascular tortuosity (HP:0004948, a Human Phenotype Ontology term): Abnormal twisting of arteries or veins. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Prominent superficial blood vessels (HP:0007394, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Muscle hypertrophy of the lower extremities (HP:0008968, a Human Phenotype Ontology term): Muscle hypertrophy primarily affecting the legs. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Venous malformation (HP:0012721, a Human Phenotype Ontology term): A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Capillary malformation (HP:0025104, a Human Phenotype Ontology term): A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Erythematous plaque (HP:0025474, a Human Phenotype Ontology term): A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Bounding pulse (HP:0032555, a Human Phenotype Ontology term): Increased amplitude (strength) of the pulse. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Hemihypertrophy of lower limb (HP:0100553, a Human Phenotype Ontology term): Overgrowth of only one leg. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Peripheral arteriovenous fistula (HP:0100784, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90307)
- Urinary retention (HP:0000016, a Human Phenotype Ontology term): Inability to completely empty the urinary bladder during the process of urination. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Abnormality of the urinary system (HP:0000079, a Human Phenotype Ontology term): An abnormality of the urinary system. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Nephrotic syndrome (HP:0000100, a Human Phenotype Ontology term): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Abnormal bleeding (HP:0001892, a Human Phenotype Ontology term): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Subarachnoid hemorrhage (HP:0002138, a Human Phenotype Ontology term): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Myelopathy (HP:0002196, a Human Phenotype Ontology term): Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Headache (HP:0002315, a Human Phenotype Ontology term): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Spinal arteriovenous malformation (HP:0002390, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Cerebral arteriovenous malformation (HP:0002408, a Human Phenotype Ontology term): An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Abnormality of the upper limb (HP:0002817, a Human Phenotype Ontology term): An abnormality of the arm. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Distal sensory impairment (HP:0002936, a Human Phenotype Ontology term): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Back pain (HP:0003418, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Somatic sensory dysfunction (HP:0003474, a Human Phenotype Ontology term): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Disseminated intravascular coagulation (HP:0005521, a Human Phenotype Ontology term): Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Abnormal femoral metaphysis morphology (HP:0006489, a Human Phenotype Ontology term): An anomaly of the femoral metaphysis. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Lower limb muscle weakness (HP:0007340, a Human Phenotype Ontology term): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Hypertrophy of the upper limb (HP:0010484, a Human Phenotype Ontology term): Abnormal increase in size of the upper limbs (due to an increase of the size of cells). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Lower limb pain (HP:0012514, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Pain (HP:0012531, a Human Phenotype Ontology term): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Neck pain (HP:0030833, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Abnormal circulating B-type natriuretic peptide concentration (HP:0031138, a Human Phenotype Ontology term): A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Conus terminalis arteriovenous malformation (HP:0031939, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Scaling skin (HP:0040189, a Human Phenotype Ontology term): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Chest pain (HP:0100749, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Abnormal lymphatic vessel morphology (HP:0100766, a Human Phenotype Ontology term): A structural anomaly of the vessel that contains or conveys lymph fluid. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Dural ectasia (HP:0100775, a Human Phenotype Ontology term): A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Skin ulcer (HP:0200042, a Human Phenotype Ontology term): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90307)
- Hemangiomatosis (HP:0007461, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:90307)
- Paraplegia (HP:0010550, a Human Phenotype Ontology term): Severe or complete weakness of both lower extremities with sparing of the upper extremities. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:90307)
These phenotypes are associated with the disease Parkes Weber syndrome (ORPHA:90307, an Orphanet rare-disease identifier).