- Venous malformation (HP:0012721): 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: Very frequent (HP:0040281). (ORPHA:83454)
- Arteriovenous malformation (HP:0100026): 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). (ORPHA:83454)
- Abnormal digit morphology (HP:0011297): A morphological abnormality of a digit, i.e., of a finger or toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83454)
- Skin nodule (HP:0200036): Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83454)
- Abnormality of the lower limb (HP:0002814): An abnormality of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83454)
- Abnormality of the upper limb (HP:0002817): An abnormality of the arm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83454)
- Generalized abnormality of skin (HP:0011354): An abnormality of the skin that is not localized to any one particular region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83454)
- Localized skin lesion (HP:0011355): A lesion of the skin that is located in a specific region rather than being generalized. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83454)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83454)
- Skin plaque (HP:0200035): A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83454)
- Gastrointestinal arteriovenous malformation (HP:0002629): An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83454)
- Abnormal tracheal morphology (HP:0002778): A structural anomaly of the trachea. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83454)
- Abnormal nasal cavity morphology (HP:0010640): Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83454)
- Abnormal renal morphology (HP:0012210): Any structural anomaly of the kidney. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83454)
- Oral mucosa nodule (HP:0031445): A palpable, solid lesion greater than 5mm in diameter that is located in the mucosa of the mouth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83454)
- Abnormal mediastinum morphology (HP:0045026): Any structural anomaly of the central compartment of the thoracic cavity. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83454)
These phenotypes are associated with the disease Glomuvenous malformation (ORPHA:83454).