From HPO
Bifid scrotum- MedGen UID:
- 90968
- •Concept ID:
- C0341787
- •
- Congenital Abnormality
Midline indentation or cleft of the scrotum.
Elevated urinary ureidopropionic acid level- MedGen UID:
- 1053019
- •Concept ID:
- CN377365
- •
- Finding
The amount of ureidopropionic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Elevated urinary ureidoisobutyric acid level- MedGen UID:
- 1052530
- •Concept ID:
- CN377454
- •
- Finding
The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency.
Elevated urinary N-carbamyl-beta-aminoisobutyric acid level- MedGen UID:
- 1054012
- •Concept ID:
- CN377455
- •
- Finding
The amount of N-carbamyl-beta-aminoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Imperforate anus- MedGen UID:
- 1997
- •Concept ID:
- C0003466
- •
- Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Bladder exstrophy- MedGen UID:
- 2661
- •Concept ID:
- C0005689
- •
- Disease or Syndrome
Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.
Dystonic disorder- MedGen UID:
- 3940
- •Concept ID:
- C0013421
- •
- Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Abnormality of speech or vocalization- MedGen UID:
- 11531
- •Concept ID:
- C0037822
- •
- Disease or Syndrome
Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering.
Status epilepticus- MedGen UID:
- 11586
- •Concept ID:
- C0038220
- •
- Disease or Syndrome
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
Loss of consciousness- MedGen UID:
- 52915
- •Concept ID:
- C0041657
- •
- Finding
Loss of alertness and orientation to place and time.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hypsarrhythmia- MedGen UID:
- 195766
- •Concept ID:
- C0684276
- •
- Finding
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Delayed CNS myelination- MedGen UID:
- 867393
- •Concept ID:
- C4021758
- •
- Anatomical Abnormality
Delayed myelination in the central nervous system.
Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration- MedGen UID:
- 1054035
- •Concept ID:
- CN376722
- •
- Finding
The concentration of N-carbamyl-beta-aminoisobutyric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.
Elevated CSF N-carbamyl-beta-alanine concentration- MedGen UID:
- 1052391
- •Concept ID:
- CN376723
- •
- Finding
The concentration of N-carbamyl-beta-alanine in the cerebrospinal fluid is above the upper limit of normal.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Neonatal hypotonia- MedGen UID:
- 412209
- •Concept ID:
- C2267233
- •
- Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Metabolic acidosis- MedGen UID:
- 65117
- •Concept ID:
- C0220981
- •
- Pathologic Function
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.
Increased circulating lactate concentration- MedGen UID:
- 332209
- •Concept ID:
- C1836440
- •
- Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Elevated circulating N-carbamoyl-beta-alanine concentration- MedGen UID:
- 1841654
- •Concept ID:
- C5826507
- •
- Finding
An increased concentrationof N-carbamoyl-beta-alanine in the blood circulation.
Reduced hepatic beta-ureidopropionase activity- MedGen UID:
- 1054500
- •Concept ID:
- CN376594
- •
- Finding
Activity of beta-ureidopropionase in the liver below the lower limit of normal.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system