- Abnormality of bone mineral density (HP:0004348): This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:210110)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:210110)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:210110)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:210110)
- Sandwich appearance of vertebral bodies (HP:0004618). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:210110)
- Erlenmeyer flask deformity of the femurs (HP:0004975): Flaring of distal femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:210110)
- Cortical sclerosis (HP:0005652): Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:210110)
- Osteosclerosis of the base of the skull (HP:0005746): An increase in bone density affecting the basicranium (base of the skull). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:210110)
- Generalized osteosclerosis (HP:0005789): An abnormal increase of bone mineral density with generalized involvement of the skeleton. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:210110)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:210110)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:210110)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:210110)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:210110)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:210110)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:210110)
- Cranial nerve compression (HP:0001293). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:210110)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:210110)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:210110)
- Abnormal dental morphology (HP:0006482): An abnormality of the morphology of the tooth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:210110)
- Optic atrophy from cranial nerve compression (HP:0007958). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:210110)
- Chronic infection (HP:0031035): Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:210110)
These phenotypes are associated with the disease Intermediate osteopetrosis (ORPHA:210110).
The following phenotypes are NOT associated with this disease:
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. (ORPHA:210110)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. (ORPHA:210110)