| HPO |
HP:0000916 |
Broad clavicles |
"Increased width (cross-sectional diameter) of the clavicles." [HPO:probinson] |
— |
HP:0000889 |
| HPO |
HP:0000917 |
Superior pectus carinatum |
"Pectus carinatum affecting primarily the superior part of the sternum." [HPO:curators] |
— |
HP:0000768 |
| HPO |
HP:0000918 |
Scapular exostoses |
"The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage." [HPO:probinson] |
— |
HP:0000782, HP:0100777 |
| HPO |
HP:0000919 |
Abnormality of the costochondral junction |
"Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson] |
The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. |
HP:0000772 |
| HPO |
HP:0000920 |
Enlargement of the costochondral junction |
"Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson] |
— |
HP:0000919 |
| HPO |
HP:0000921 |
Missing ribs |
"A developmental anomaly with absence of one or more ribs." [HPO:probinson] |
— |
HP:0006712 |
| HPO |
HP:0000922 |
Posterior rib cupping |
"Wide, concave posterior rib end." [HPO:probinson] |
— |
HP:0000887 |
| HPO |
HP:0000923 |
Beaded ribs |
"The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage." [HPO:probinson] |
Beaded ribs, sometimes referred to as rachitic rosary, were often seen in rachitic children. |
HP:0000772 |
| HPO |
HP:0000924 |
Abnormality of the skeletal system |
"An abnormality of the skeletal system." [HPO:probinson] |
— |
HP:0033127 |
| HPO |
HP:0000925 |
Abnormality of the vertebral column |
"Any abnormality of the vertebral column." [HPO:probinson] |
— |
HP:0009121 |
| HPO |
HP:0000926 |
Platyspondyly |
"A flattened vertebral body shape with reduced distance between the vertebral endplates." [HPO:probinson] |
— |
HP:0003312 |
| HPO |
HP:0000927 |
Abnormality of skeletal maturation |
"The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation." [HPO:probinson] |
— |
HP:0011843 |
| HPO |
HP:0000929 |
Abnormal skull morphology |
"An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones." [HPO:probinson] |
— |
HP:0000234, HP:0009121 |
| HPO |
HP:0000930 |
Elevated imprint of the transverse sinuses |
— |
— |
HP:0002693 |
| HPO |
HP:0000931 |
Thinning and bulging of the posterior fossa bones |
— |
— |
HP:0000932 |
| HPO |
HP:0000932 |
Abnormal posterior cranial fossa morphology |
"An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum." [HPO:probinson, PMID:25970099, PMID:28295149] |
The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography. |
HP:0002693 |
| HPO |
HP:0000933 |
Posterior fossa cyst at the fourth ventricle |
— |
— |
HP:0007109, HP:0007291 |
| HPO |
HP:0000934 |
Chondrocalcinosis |
"Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) ." [HPO:sdoelken] |
— |
HP:0001367, HP:0010766, HP:0100685 |
| HPO |
HP:0000935 |
Thickened cortex of long bones |
"Abnormal thickening of the cortex of long bones." [HPO:curators] |
— |
HP:0011314, HP:0100039 |
| HPO |
HP:0000938 |
Osteopenia |
"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5." [HPO:probinson, PMID:21234807] |
— |
HP:0004349 |
| HPO |
HP:0000939 |
Osteoporosis |
"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [HPO:probinson, PMID:28293453] |
Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. |
HP:0004349 |
| HPO |
HP:0000940 |
Abnormal diaphysis morphology |
"An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone." [HPO:probinson] |
— |
HP:0002813, HP:0011314 |
| HPO |
HP:0000941 |
Short diaphyses |
— |
— |
HP:0000940 |
| HPO |
HP:0000943 |
Dysostosis multiplex |
— |
— |
HP:0011842 |
| HPO |
HP:0000944 |
Abnormality of the metaphysis |
"An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood." [HPO:probinson] |
— |
HP:0002813, HP:0011314 |