HPO
Db Link Name Definition Comment Is a
HPO HP:0005302 Carotid artery tortuosity "Abnormal tortuous (i.e., twisted) form of the carotid arteries." [HPO:probinson] HP:0005116, HP:0005344
HPO HP:0005303 Aortic arch calcification "Calcification, that is, pathological deposition of calcium salts in the arch of aorta." [HPO:probinson] HP:0004962
HPO HP:0005304 Hypoplastic pulmonary veins HP:0030968
HPO HP:0005305 Cerebral venous thrombosis "Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow." [HPO:probinson] HP:0004936
HPO HP:0005306 Capillary hemangioma "The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces." [HPO:probinson] HP:0001028
HPO HP:0005307 Postural hypotension with compensatory tachycardia HP:0001278
HPO HP:0005308 Pulmonary artery vasoconstriction HP:0030967
HPO HP:0005309 obsolete Peripheral vascular insufficiency
HPO HP:0005310 Large vessel vasculitis "A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta." [HPO:probinson, PMID:16088500] HP:0002633
HPO HP:0005311 Agenesis of pulmonary vessels "A developmental defect characterized by the lack of formation of the pulmonary blood vessels." [] HP:0004930
HPO HP:0005312 Pulmonary aterial intimal fibrosis "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation." [HPO:probinson] Some causes of intimal fibrosis are hypertension, intimal fibroplasia, arterial atheroma, and CADASIL syndrome. HP:0030966
HPO HP:0005313 Arterial fibromuscular dysplasia "An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer." [PMID:27939641] Fibromuscular dysplasia (FMD) is distinct from atherosclerotic lesions in that FMD lesions do not contain inflammatory cells or lipids. Instead, the pathology of FMD. FMD can result in arterial stenosis or occlusion, and less commonly, arterial dissection or aneurysm formation. FMD can affect almost any artery but most commonly affects the renal arteries, presenting as hypertension, and the carotid and vertebral arteries, leading to ischemic stroke, transient ischemic attacks, headaches, and pulsatile tinnitus. HP:0011004
HPO HP:0005314 Anomalous branches of internal carotid artery HP:0005344
HPO HP:0005315 obsolete Peripheral artery occlusive disease
HPO HP:0005316 Peripheral pulmonary vessel aplasia HP:0004930
HPO HP:0005317 Increased pulmonary vascular resistance "Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units." [] HP:0030875
HPO HP:0005318 Cerebral vasculitis "Inflammation of the blood vessels within the brain." [HPO:probinson] HP:0002633, HP:0100659
HPO HP:0005320 Lack of facial subcutaneous fat HP:0003717
HPO HP:0005321 Mandibulofacial dysostosis "A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations." [HPO:probinson] HP:0004439
HPO HP:0005322 Prominent nasal septum HP:0000419
HPO HP:0005323 Hemifacial hypertrophy "Unilateral overgrowth of facial tissues, including muscles, bones and skin." [HPO:probinson] HP:0000324
HPO HP:0005324 Disturbance of facial expression "An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed." [DDD:cwright] HP:0005346
HPO HP:0005325 Extension of hair growth on temples to lateral eyebrow "A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows." [HPO:probinson] HP:0000599
HPO HP:0005326 Hypoplastic philtrum "Underdevelopment of the philtrum." [HPO:probinson] HP:0000288
HPO HP:0005327 Loss of facial expression HP:0004673