Phenotypes associated with the disease Isolated osteopoikilosis (ORPHA:166119):
- Increased bone mineral density (HP:0011001): An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:166119)
- Abnormal bone ossification (HP:0011849): Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:166119)
- Abnormality of limb bone (HP:0040068). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:166119)
- Sclerotic foci in hand bones (HP:0004289). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:166119)
- Abnormal pelvis bone ossification (HP:0009106): An abnormality of the formation and mineralization of any bone of the bony pelvis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:166119)
- Abnormal long bone morphology (HP:0011314): An abnormality of size or shape of the long bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:166119)
- Abnormal pelvis bone morphology (HP:0040163). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:166119)
- Hyperostosis (HP:0100774): Excessive growth or abnormal thickening of bone tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:166119)
- Sclerosis of foot bone (HP:0100925): An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:166119)
- Dacryocystitis (HP:0000620): Inflammation of the nasolacrimal sac. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Sclerotic scapulae (HP:0001474): Increased density of the bony tissue of the scapula. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Sclerotic foci within carpal bones (HP:0004240). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Neurodevelopmental delay (HP:0012758): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Hip pain (HP:0030838): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Ankle pain (HP:0030840): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Addictive alcohol use (HP:0030955): An addictive behavior is defined as drinking excessive amounts of alcohol over a prolonged period of time, having difficulty in reducing the amount of alcohol consumed, strongly desiring alcohol, and experiencing withdrawal symptoms when not drinking alcohol. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Tarsal sclerosis (HP:0031051): An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Episodic pain (HP:0032148): Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Abnormally ossified vertebrae (HP:0100569): An abnormality of the formation and mineralization of one or more vertebrae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:166119)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:166119)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:166119)
- Abnormality of the endocrine system (HP:0000818): An abnormality of the endocrine system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:166119)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:166119)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:166119)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:166119)
- Discoid lupus rash (HP:0007417): Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:166119)
- Keloids (HP:0010562). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:166119)
- Scleroderma (HP:0100324): A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:166119)