| HPO |
HP:0002789 |
Tachypnea |
"Very rapid breathing." [HPO:probinson] |
In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute. |
HP:0002793 |
| HPO |
HP:0002790 |
Neonatal breathing dysregulation |
— |
— |
HP:0005957 |
| HPO |
HP:0002791 |
Hypoventilation |
"A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide)." [HPO:probinson] |
Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal. |
HP:0002793 |
| HPO |
HP:0002792 |
Reduced vital capacity |
"An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung." [HPO:probinson] |
— |
HP:0030878 |
| HPO |
HP:0002793 |
Abnormal pattern of respiration |
"An anomaly of the rhythm or depth of breathing." [HPO:probinson] |
— |
HP:0002795 |
| HPO |
HP:0002795 |
Abnormal respiratory system physiology |
— |
— |
HP:0002086 |
| HPO |
HP:0002797 |
Osteolysis |
"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium." [HPO:probinson] |
Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms. |
HP:0003330 |
| HPO |
HP:0002803 |
Congenital contracture |
"One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth." [HPO:probinson] |
— |
HP:0001371 |
| HPO |
HP:0002804 |
Arthrogryposis multiplex congenita |
"Multiple congenital contractures in different body areas." [HPO:probinson, PMID:23050160] |
Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature. |
HP:0002803 |
| HPO |
HP:0002805 |
Accelerated bone age after puberty |
— |
— |
HP:0005616 |
| HPO |
HP:0002808 |
Kyphosis |
"Exaggerated anterior convexity of the thoracic vertebral column." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0002810 |
Dumbbell-shaped metaphyses |
— |
— |
HP:0000944 |
| HPO |
HP:0002812 |
Coxa vara |
"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees." [HPO:probinson] |
The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired. |
HP:0003367 |
| HPO |
HP:0002813 |
Abnormality of limb bone morphology |
"Any abnormality of bones of the arms or legs." [HPO:probinson] |
— |
HP:0011844, HP:0040068 |
| HPO |
HP:0002814 |
Abnormality of the lower limb |
"An abnormality of the leg." [HPO:probinson] |
— |
HP:0040064 |
| HPO |
HP:0002815 |
Abnormality of the knee |
"An abnormality of the knee joint or surrounding structures." [HPO:probinson] |
— |
HP:0100491 |
| HPO |
HP:0002816 |
Genu recurvatum |
"An abnormally increased extension of the knee joint, so that the knee can bend backwards." [HPO:probinson, PMID:9580896] |
Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension. |
HP:0010500 |
| HPO |
HP:0002817 |
Abnormality of the upper limb |
"An abnormality of the arm." [HPO:probinson] |
— |
HP:0040064 |
| HPO |
HP:0002818 |
Abnormality of the radius |
"An abnormality of the radius." [HPO:probinson] |
— |
HP:0040072 |
| HPO |
HP:0002821 |
Neuropathic arthropathy |
— |
— |
HP:0003040 |
| HPO |
HP:0002822 |
Hyperplasia of the femoral trochanters |
— |
— |
HP:0003366 |
| HPO |
HP:0002823 |
Abnormality of femur morphology |
"Any anomaly of the structure of the femur." [HPO:probinson] |
The femur (plural: femora) is the thigh bone. |
HP:0040069 |
| HPO |
HP:0002825 |
Caudal appendage |
"The presence of a tail-like skin appendage located adjacent to the sacrum." [HPO:probinson] |
— |
HP:0008519 |
| HPO |
HP:0002826 |
Halberd-shaped pelvis |
"An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle)." [HPO:probinson, PMID:19232556] |
— |
HP:0040163 |
| HPO |
HP:0002827 |
Hip dislocation |
"Displacement of the femur from its normal location in the hip joint." [HPO:probinson] |
— |
HP:0001384, HP:0030311 |