| HPO |
HP:0001942 |
Metabolic acidosis |
"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause." [HPO:probinson, PMID:17936961, PMID:31418093] |
The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis. |
HP:0001941 |
| HPO |
HP:0001943 |
Hypoglycemia |
"A decreased concentration of glucose in the blood." [HPO:curators] |
— |
HP:0011015 |
| HPO |
HP:0001944 |
Dehydration |
— |
— |
HP:0011032 |
| HPO |
HP:0001945 |
Fever |
"Body temperature elevated above the normal range." [HPO:sdoelken, PMID:9759682] |
Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation. |
HP:0004370 |
| HPO |
HP:0001946 |
Ketosis |
"Presence of elevated levels of ketone bodies in the body." [HPO:probinson, PMID:28278308] |
Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. The predominant ketones being acetoacetate, acetone, and beta-hydroxybutyrate. |
HP:0001939 |
| HPO |
HP:0001947 |
Renal tubular acidosis |
"Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis." [HPO:probinson] |
— |
HP:0000124, HP:0001942 |
| HPO |
HP:0001948 |
Alkalosis |
"Depletion of acid or accumulation base in the body fluids." [HPO:probinson, PMID:24381489] |
When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. |
HP:0004360 |
| HPO |
HP:0001949 |
Hypokalemic alkalosis |
— |
— |
HP:0001948 |
| HPO |
HP:0001950 |
Respiratory alkalosis |
"Alkalosis due to excess loss of carbon dioxide from the body." [HPO:probinson] |
— |
HP:0001948 |
| HPO |
HP:0001951 |
Episodic ammonia intoxication |
— |
— |
HP:0004364 |
| HPO |
HP:0001952 |
Glucose intolerance |
"Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM)." [PMID:29763085] |
— |
HP:0011014 |
| HPO |
HP:0001953 |
Diabetic ketoacidosis |
"A type of diabetic metabolic abnormality with an accumulation of ketone bodies." [HPO:probinson] |
— |
HP:0000819, HP:0001993 |
| HPO |
HP:0001954 |
Recurrent fever |
"Periodic (episodic or recurrent) bouts of fever." [HPO:probinson] |
— |
HP:0001945 |
| HPO |
HP:0001955 |
Unexplained fevers |
"Episodes of fever for which no infectious cause can be identified." [HPO:curators] |
— |
HP:0001945 |
| HPO |
HP:0001956 |
Truncal obesity |
"Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:probinson] |
— |
HP:0001513 |
| HPO |
HP:0001958 |
Nonketotic hypoglycemia |
— |
— |
HP:0001943 |
| HPO |
HP:0001959 |
Polydipsia |
"Excessive thirst manifested by excessive fluid intake." [] |
— |
HP:0030082 |
| HPO |
HP:0001960 |
Hypokalemic metabolic alkalosis |
— |
— |
HP:0001949, HP:0200114 |
| HPO |
HP:0001961 |
Hypoplastic heart |
— |
— |
HP:0001627 |
| HPO |
HP:0001962 |
Palpitations |
"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia." [HPO:probinson] |
— |
HP:0011675 |
| HPO |
HP:0001963 |
Abnormal speech discrimination |
"A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss." [HPO:curators] |
— |
HP:0000364 |
| HPO |
HP:0001964 |
Aplasia/Hypoplasia of metatarsal bones |
"Absence or underdevelopment of the metatarsal bones." [HPO:curators] |
— |
HP:0001832, HP:0006494 |
| HPO |
HP:0001965 |
Abnormal scalp morphology |
"Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows." [HPO:probinson] |
The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones. |
HP:0000234 |
| HPO |
HP:0001966 |
Abnormal glomerular mesangium morphology |
"An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries." [HPO:probinson, PMID:19470685, PMID:20828589] |
Mesangial cells constitute the central stalk of the glomerulus and are in continuity with the extraglomerular mesangium and the juxtaglomerular apparatus. They have contractile properties generated by anchoring filaments to glomerular basement membrane opposite podocyte foot processes and at the paramesangial angles, thereby assisting in the maintenance of capillary organization and convolution. On the capillary lumen side, mesangial cells are in direct contact with endothelial cells without an intervening basement membrane. |
HP:0000095 |
| HPO |
HP:0001967 |
Diffuse mesangial sclerosis |
"Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion." [HPO:probinson] |
This finding can be demonstrated by renal biopsy. |
HP:0001966 |