- Bladder diverticulum (HP:0000015): Diverticulum (sac or pouch) in the wall of the urinary bladder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Abnormal oral frenulum morphology (HP:0000190): An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Abnormal eyelash morphology (HP:0000499): An abnormality of the eyelashes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Sprengel anomaly (HP:0000912): A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Melanocytic nevus (HP:0000995): A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Abnormal heart valve morphology (HP:0001654): Any structural abnormality of a cardiac valve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Abnormal bleeding (HP:0001892): 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: Very frequent (HP:0040281). (ORPHA:286)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Vascular dilatation (HP:0002617): 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: Very frequent (HP:0040281). (ORPHA:286)
- Aortic dissection (HP:0002647): Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Gastrointestinal infarctions (HP:0005244). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Prematurely aged appearance (HP:0007495). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Aplasia/Hypoplasia of the earlobes (HP:0009906): Absence or underdevelopment of the ear lobes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Dermal translucency (HP:0010648): An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Internal hemorrhage (HP:0011029): The presence of hemorrhage within the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Macule (HP:0012733): A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Peripheral arteriovenous fistula (HP:0100784). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Aplasia/Hypoplasia of the eyebrow (HP:0100840): Absence or underdevelopment of the eyebrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:286)
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:286)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:286)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:286)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:286)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:286)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:286)
- Varicose veins (HP:0002619): Enlarged and tortuous veins. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:286)
- Arteriovenous fistulas of celiac and mesenteric vessels (HP:0002642). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:286)
- Arteriovenous fistula (HP:0004947): An abnormal connection between an artery and vein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:286)
- Arterial dissection (HP:0005294): A separation (dissection) of the layers of an artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:286)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:286)
- Telangiectasia of the skin (HP:0100585): 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). (ORPHA:286)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Uterine prolapse (HP:0000139): The presence of prolapse of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Abnormality of the gingiva (HP:0000168): Any abnormality of the gingiva (also known as gums). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Gingivitis (HP:0000230): Inflammation of the gingiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Narrow nasal bridge (HP:0000446): Decreased width of the bony bridge of the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Keratoconus (HP:0000563): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Abnormal pupil morphology (HP:0000615): An abnormality of the pupil. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Periodontitis (HP:0000704): Inflammation of the periodontium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Abnormal skin pigmentation (HP:0001000): An abnormality of the pigmentation of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Cigarette-paper scars (HP:0001073): Thin (atrophic) and wide scars. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Congenital hip dislocation (HP:0001374). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Redundant skin (HP:0001582): Loose and sagging skin often associated with loss of skin elasticity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Abnormal intestine morphology (HP:0002242): An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Transient ischemic attack (HP:0002326). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Reduced consciousness (HP:0004372): Abnormally diminished level of attention, responsiveness, or wakefulness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Pulmonary artery aneurysm (HP:0004937): An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Aortic aneurysm (HP:0004942): Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Ascending tubular aorta aneurysm (HP:0004970): An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Premature loss of primary teeth (HP:0006323): Loss of the primary (also known as deciduous) teeth before the usual age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Excessive wrinkled skin (HP:0007392). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Hypoplastic lacrimal duct (HP:0007900). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318): Absence or underdevelopment of the abdominal musculature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Sleep apnea (HP:0010535): An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Abnormality of hair texture (HP:0010719): An abnormality of the texture of the hair. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Arterial stenosis (HP:0100545): Narrowing or constriction of the inner surface (lumen) of an artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Cystocele (HP:0100645): Anterior vaginal wall prolapse with bulging of the bladder into the vagina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Uterine rupture (HP:0100718). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Renovascular hypertension (HP:0100817): The presence of hypertension related to stenosis of the renal artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:286)
These phenotypes are associated with the disease Vascular Ehlers-Danlos syndrome (ORPHA:286).