| HPO |
HP:0045084 |
Limb myoclonus |
— |
Limb myoclonus was noted in Early myoclonic encephalopathy. See PMID:27789573 |
HP:0001336 |
| HPO |
HP:0025097 |
Eyelid myoclonus |
"Marked, involuntary jerking of the eyelids." [] |
Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences. |
HP:0001336 |
| HPO |
HP:0002747 |
Respiratory insufficiency due to muscle weakness |
— |
— |
HP:0002093, HP:0004347 |
| HPO |
HP:0002540 |
Inability to walk |
"Incapability to ambulate." [HPO:probinson] |
— |
HP:0001288 |
| HPO |
HP:0002878 |
Respiratory failure |
"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits." [HPO:probinson] |
Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg). |
HP:0002093 |
| HPO |
HP:0001337 |
Tremor |
"An unintentional, oscillating to-and-fro muscle movement about a joint axis." [HPO:probinson, PMID:16344298, PMID:20589866] |
Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. |
HP:0004305 |
| HPO |
HP:0002100 |
Recurrent aspiration pneumonia |
"Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia." [HPO:probinson] |
— |
HP:0011951 |
| HPO |
HP:0010819 |
Atonic seizure |
"Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature." [HPO:jalbers, HPO:probinson, ORCID:0000-0002-1735-8178, PMID:11580774] |
This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding atonic seizures when the onset is not known. |
HP:0020219 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0025190 |
Bilateral tonic-clonic seizure with generalized onset |
"A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure." [PMID:20196795, PMID:28276060, PMID:28276064, PMID:6790275] |
— |
HP:0002069, HP:0032677 |
| HPO |
HP:0002015 |
Dysphagia |
"Difficulty in swallowing." [HPO:probinson] |
— |
HP:0012638, HP:0025270 |
| HPO |
HP:0009811 |
Abnormality of the elbow |
"An anomaly of the joint that connects the upper and the lower arm." [HPO:probinson] |
— |
HP:0009810 |
| HPO |
HP:0025405 |
Visual fixation instability |
"A deficit in the ability to fixate eye movements in order to stabilize images on the retina" [] |
— |
HP:0025404 |
| HPO |
HP:0002300 |
Mutism |
— |
— |
HP:0000708, HP:0002167 |
| HPO |
HP:0004322 |
Short stature |
"A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
— |
HP:0000002, HP:0001510 |
| HPO |
HP:0001789 |
Hydrops fetalis |
"The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema." [HPO:probinson] |
The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. |
HP:0000969, HP:0001197 |
| HPO |
HP:0002910 |
Elevated hepatic transaminase |
"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:probinson] |
— |
HP:0012379 |
| HPO |
HP:0001686 |
Loss of voice |
— |
— |
HP:0001608 |
| HPO |
HP:0008947 |
Infantile muscular hypotonia |
"Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [HPO:curators] |
This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly. |
HP:0001252 |
| HPO |
HP:0003202 |
Skeletal muscle atrophy |
"The presence of skeletal muscular atrophy (which is also known as amyotrophy)." [HPO:probinson] |
— |
HP:0030236 |
| HPO |
HP:0001399 |
Hepatic failure |
— |
— |
HP:0001410 |
| HPO |
HP:0011968 |
Feeding difficulties |
"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
— |
HP:0011458 |
| HPO |
HP:0001903 |
Anemia |
"A reduction in erythrocytes volume or hemoglobin concentration." [HPO:probinson] |
Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. |
HP:0001877 |
| HPO |
HP:0002385 |
Paraparesis |
"Weakness or partial paralysis in the lower limbs." [HPO:probinson] |
Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity. |
HP:0010551 |
| HPO |
HP:0006575 |
Intrahepatic cholestasis with episodic jaundice |
— |
— |
HP:0001406 |