From HPO
Micromelia- MedGen UID:
- 10031
- •Concept ID:
- C0025995
- •
- Congenital Abnormality
The presence of abnormally small extremities.
Bradycardia- MedGen UID:
- 140901
- •Concept ID:
- C0428977
- •
- Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
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.
Encephalopathy- MedGen UID:
- 39314
- •Concept ID:
- C0085584
- •
- Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Hypoplasia of the corpus callosum- MedGen UID:
- 138005
- •Concept ID:
- C0344482
- •
- Congenital Abnormality
Underdevelopment of the corpus callosum.
Subependymal cysts- MedGen UID:
- 318876
- •Concept ID:
- C1833431
- •
- Anatomical Abnormality
Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.
Lower limb hyperreflexia- MedGen UID:
- 322973
- •Concept ID:
- C1836696
- •
- Finding
Severe global developmental delay- MedGen UID:
- 332436
- •Concept ID:
- C1837397
- •
- Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Lateral ventricle dilatation- MedGen UID:
- 383904
- •Concept ID:
- C1856409
- •
- Pathologic Function
CNS hypomyelination- MedGen UID:
- 892446
- •Concept ID:
- C4025616
- •
- Finding
Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
Brain atrophy- MedGen UID:
- 1643639
- •Concept ID:
- C4551584
- •
- Disease or Syndrome
Partial or complete wasting (loss) of brain tissue that was once present.
Decreased CSF glutamine concentration- MedGen UID:
- 1707750
- •Concept ID:
- C5139583
- •
- Finding
Abnormally decreased levels of glutamine in cerebrospinal fluid.
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.
Flexion contracture- MedGen UID:
- 83069
- •Concept ID:
- C0333068
- •
- Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Camptodactyly- MedGen UID:
- 195780
- •Concept ID:
- C0685409
- •
- Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Apnea- MedGen UID:
- 2009
- •Concept ID:
- C0003578
- •
- Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Recurrent respiratory infections- MedGen UID:
- 812812
- •Concept ID:
- C3806482
- •
- Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Neonatal respiratory distress- MedGen UID:
- 924182
- •Concept ID:
- C4281993
- •
- Finding
Respiratory difficulty as newborn.
Hypoglutaminemia- MedGen UID:
- 1671003
- •Concept ID:
- C4732901
- •
- Finding
Decreased amount of glutamine in the blood.
Hyperammonemia- MedGen UID:
- 1802066
- •Concept ID:
- C5574662
- •
- Laboratory or Test Result
An increased concentration of ammonia in the blood.
Thin vermilion border- MedGen UID:
- 108294
- •Concept ID:
- C0578038
- •
- Finding
Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
Depressed nasal bridge- MedGen UID:
- 373112
- •Concept ID:
- C1836542
- •
- Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Anteverted nares- MedGen UID:
- 326648
- •Concept ID:
- C1840077
- •
- Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Short nose- MedGen UID:
- 343052
- •Concept ID:
- C1854114
- •
- Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Erythema- MedGen UID:
- 11999
- •Concept ID:
- C0041834
- •
- Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Ear malformation