- Hemangioma (HP:0001028, a Human Phenotype Ontology term): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:141179)
- Midfrontal capillary hemangioma (HP:0007466, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:141179)
- Subcutaneous calcification (HP:0007618, a Human Phenotype Ontology term): Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:141179)
- Perineal hemangioma (HP:0031449, a Human Phenotype Ontology term): Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:141179)
- Telangiectasia of the skin (HP:0100585, a Human Phenotype Ontology term): Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:141179)
- Prominent superficial veins (HP:0001015, a Human Phenotype Ontology term): A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:141179)
- Congestive heart failure (HP:0001635, a Human Phenotype Ontology term): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:141179)
- Thrombocytopenia (HP:0001873, a Human Phenotype Ontology term): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:141179)
- Hepatic hemangioma (HP:0031207, a Human Phenotype Ontology term): A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:141179)
- Peripheral arteriovenous fistula (HP:0100784, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:141179)
- Visceral hemangioma (HP:0410266, a Human Phenotype Ontology term): A hemangioma arising from within visceral structures, the internal organs of the body. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:141179)
These phenotypes are associated with the disease Non-involuting congenital hemangioma (ORPHA:141179, an Orphanet rare-disease identifier).
The following phenotypes are NOT associated with this disease:
- Tufted angioma (HP:0012329, a Human Phenotype Ontology term): A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation. Evidence: TAS. (ORPHA:141179)