|
Epileptic encephalopathy
|
HP_0200134 |
[A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.] |
|
Lumbosacral meningocele
|
HP_0200133 |
|
|
splenic endothelial cell
|
CL_2000053 |
[Any endothelial cell that is part of a spleen.] |
|
Oral-pharyngeal dysphagia
|
HP_0200136 |
|
|
umbilical artery endothelial cell
|
CL_2000052 |
[Any endothelial cell of artery that is part of a umbilical cord.] |
|
obsolete Macrocephaly due to hydrocephalus
|
HP_0200135 |
|
|
splenic fibroblast
|
CL_2000051 |
[Any fibroblast that is part of a spleen.] |
|
Septic pulmonary embolism
|
HP_0033639 |
[Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations.] |
|
D-alloisoleucine zwitterion
|
CHEBI_85306 |
[A D-alpha-amino acid zwitterion resulting from a transfer of a proton from the carboxy group to the amino group of D-alloisoleucine; major species at pH 7.3.] |
|
Intralobular septal thickening
|
HP_0033638 |
[Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.] |
|
Anti-endomysial antibody positivity
|
HP_0033637 |
[The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).] |
|
Combined pre- and post-capillary pulmonary hypertension
|
HP_0033636 |
[Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).] |
|
Reduced proximal interphalangeal joint space
|
HP_0006019 |
|
|
Post-capillary pulmonary hypertension
|
HP_0033635 |
[Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).] |
|
Delayed phalangeal epiphyseal ossification
|
HP_0006016 |
[Delay in the process of formation and maturation of the epiphysis of one or more phalanx.] |
|
cerebellar basket cell
|
CL_2000027 |
[A GABAergic inhibitory interneuron located in the molecular layer of the cerebellar cortex. It projects axons that form specialized synaptic structures around Purkinje cells, including pericellular baskets, which wrap around the Purkinje cell soma, and the pinceau: a brush-like terminal that contacts the initial segment of the Purkinje cell axon. The basket cell modulates Purkinje cell activity through both chemical (GABAergic) and non-synaptic (ephaptic) mechanisms. It is arranged in sagittal rows that align with Purkinje cell zones, contributing to the cerebellum's modular and topographically organized architecture. It plays an essential role in regulating motor coordination and potentially cognitive functions.] |
|
basket cell
|
CL_0000118 |
[Basket cells are inhibitory GABAergic interneurons of the brain. In general, dendrites of basket cells are free branching and contain smooth spines. Axons are highly branched. The branched axonal arborizations give rise to basket-like structures that surround the soma of the target cell. Basket cells form axo-somatic synapses, meaning their synapses target somas of other cells.] |
|
Increased alveolar volume
|
HP_0033634 |
[An abnormal elevation in alveolar volume.] |
|
Abnormal alveolar volume
|
HP_0033632 |
[Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath maneuver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.] |
|
Congenital nephrotic syndrome
|
HP_0008677 |
[Nephrotic syndrome with onset within the first three months of life.] |