| HPO |
HP:0012248 |
Prolonged PR interval |
"Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex)." [HPO:probinson, PMID:23677846] |
In adults, normal values are 120 to 200 ms long. |
HP:0031593 |
| HPO |
HP:0012249 |
Abnormal ST segment |
"An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment." [HPO:probinson] |
— |
HP:0003115 |
| HPO |
HP:0012250 |
ST segment depression |
"An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line." [HPO:probinson] |
— |
HP:0012249 |
| HPO |
HP:0012251 |
ST segment elevation |
"An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line." [HPO:probinson] |
ST segment elevation may have multiple causes including myocardial infaction, left ventricular aneurysm, and hyperkalemia. |
HP:0012249 |
| HPO |
HP:0012252 |
Abnormal respiratory system morphology |
"A structural anomaly of the respiratory system." [HPO:probinson] |
— |
HP:0002086 |
| HPO |
HP:0012253 |
Abnormal respiratory epithelium morphology |
"Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi." [HPO:probinson, MP:0010942] |
— |
HP:0012252 |
| HPO |
HP:0012254 |
Ewing sarcoma |
"A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones." [HPO:probinson, PMID:17272319] |
Histologically, Ewing's sarcoma is composed of a homogeneous population of small round cells with high nuclear to cytoplasmic ratios that are arrayed in sheets. There is scant cytoplasms, which is pale, vacuolated and characterized by faded boundaries. In contrast, the nuclei are clearly visualized by their intense color. Mitotic activity is typically low. |
HP:0100242 |
| HPO |
HP:0012255 |
Dynein arm defect of respiratory motile cilia |
"An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, PMID:19606528] |
The peripheral microtubules in the canonical 9 + 2 microtubular pattern of motile cilia are studded with dynein arms that contain adenosine triphosphatases and act as molecular motors to effect the sliding of the peripheral microtubular pairs relative to one another. |
HP:0005938 |
| HPO |
HP:0012256 |
Absent outer dynein arms |
"Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, PMID:19606528] |
— |
HP:0200106 |
| HPO |
HP:0012257 |
Absent inner dynein arms |
"Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:skoehler, PMID:19606528] |
— |
HP:0200106 |
| HPO |
HP:0012258 |
Abnormal axonemal organization of respiratory motile cilia |
"Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms." [HPO:probinson, PMID:19606528] |
Abnormal axonemal organization comprises anomalies such as an eccentric central pair of microtubuli, abnormal radial spokes and nexin links, reduced number of inner dynein arms, and displacement of the outer doublet. |
HP:0005938 |
| HPO |
HP:0012259 |
Absent inner and outer dynein arms |
"Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, PMID:19606528] |
— |
HP:0012256, HP:0012257 |
| HPO |
HP:0012260 |
Abnormal central microtubular pair morphology of respiratory motile cilia |
"A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [HPO:probinson, PMID:19200523] |
The central microtubular pair is referred to as the central part of axoneme of cilium. |
HP:0005938 |
| HPO |
HP:0012261 |
Abnormal respiratory motile cilium physiology |
"Any functional anomaly of the respiratory motile cilia." [HPO:probinson, MP:0011055] |
Abnormal respiratory motile cilium physiology may include alterations in ciliary beating pattern or frequency. |
HP:0002795 |
| HPO |
HP:0012262 |
Abnormal ciliary motility |
"Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions." [HPO:probinson, PMID:19606528, PMID:20301301] |
Ciliated epithelial cells bear approximately 200 motile (9 + 2) cilia that move with both intracellular and intercellular synchrony. The pattern of beat in 9 + 2 motile cilia occurs in a waveform having a forward effective stroke followed by a return stroke. The direction of stroke is a function of the directional orientation of the central microtubules. In addition to moving in synchrony, individual cilia in normal cells are very plastic and move fluidly, sometimes deforming briefly upon encountering resistance and/or particles being transported over the mucosal surface. Cilia are embedded in a watery periciliary fluid of low viscosity, which facilitates the rapid beat cycle to move the more viscous overlying layer of mucus. Ciliary beat frequency ranges from approximately 8-20 Hz under normal conditions but may be accelerated by exposure to irritants such as tobacco smoke. |
HP:0012261 |
| HPO |
HP:0012263 |
Immotile cilia |
— |
— |
HP:0012262 |
| HPO |
HP:0012264 |
Absent central microtubular pair morphology of respiratory motile cilia |
"Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [HPO:probinson] |
— |
HP:0005938 |
| HPO |
HP:0012265 |
Ciliary dyskinesia |
"A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, PMID:19606528] |
Typically, but not always, dyskinesia is characterized by markedly attenuated ciliary beat frequency. |
HP:0012262 |
| HPO |
HP:0012266 |
T-wave alternans |
"A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG." [HPO:probinson, PMID:17592081] |
— |
HP:0005135 |
| HPO |
HP:0012267 |
Absent respiratory ciliary axoneme radial spokes |
"Absence of the radial spokes of the axoneme of the respiratory cilium." [HPO:probinson, PMID:19606528] |
— |
HP:0005938 |
| HPO |
HP:0012268 |
Myxoid liposarcoma |
"A liposarcoma that contains myxomatous tissue." [HPO:probinson] |
— |
HP:0012034 |
| HPO |
HP:0012269 |
Abnormal muscle glycogen content |
"Any anomaly in the amount of glycogen in muscle tissue." [HPO:probinson] |
Glycogen functions as a secondary short term energy storage in muscle. |
HP:0004303 |
| HPO |
HP:0012270 |
Decreased muscle glycogen content |
"A decreased amount of glycogen in muscle tissue." [HPO:probinson] |
— |
HP:0012269 |
| HPO |
HP:0012271 |
Episodic upper airway obstruction |
"Intermittent episodes of increased resistance to the passage of air in the upper airway." [HPO:probinson] |
— |
HP:0002781 |
| HPO |
HP:0012272 |
J wave |
"The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point." [HPO:probinson, PMID:19561994] |
J waves can be seen in hypothermia when the core body temperature falls below 32 degrees C. Then, they occur most prominently in the inferior leads: II, III, and aVF and the precordial leads: V5-V6. J waves can also be observed in other conditions such as some forms of Brugada syndrome. |
HP:0003115 |