From HPO
Pain- MedGen UID:
- 45282
- •Concept ID:
- C0030193
- •
- Sign or Symptom
An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Heparan sulfate excretion in urine- MedGen UID:
- 340721
- •Concept ID:
- C1854827
- •
- Finding
An increased concentration of heparan sulfates in the urine.
3-Methylglutaconic aciduria- MedGen UID:
- 777186
- •Concept ID:
- C3696376
- •
- Disease or Syndrome
An increased amount of 3-methylglutaconic acid in the urine.
Chondroitin sulfate excretion in urine- MedGen UID:
- 868657
- •Concept ID:
- C4023059
- •
- Finding
An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.
Keratan sulfate excretion in urine- MedGen UID:
- 868658
- •Concept ID:
- C4023060
- •
- Laboratory or Test Result
An increased concentration of keratan sulfate in the urine.
Single transverse palmar crease- MedGen UID:
- 96108
- •Concept ID:
- C0424731
- •
- Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Small hand- MedGen UID:
- 108279
- •Concept ID:
- C0575802
- •
- Finding
Disproportionately small hand.
Short foot- MedGen UID:
- 376415
- •Concept ID:
- C1848673
- •
- Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Dilation of Virchow-Robin spaces- MedGen UID:
- 342926
- •Concept ID:
- C1853618
- •
- Finding
Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.
Decreased body weight- MedGen UID:
- 1806755
- •Concept ID:
- C5574742
- •
- Finding
Abnormally low body weight.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Hepatic fibrosis- MedGen UID:
- 116093
- •Concept ID:
- C0239946
- •
- Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Oral-pharyngeal dysphagia- MedGen UID:
- 120596
- •Concept ID:
- C0267071
- •
- Disease or Syndrome
Difficulty in swallowing due to an abnormality in the mouth or throat.
Impaired oral bolus formation- MedGen UID:
- 1386273
- •Concept ID:
- C4477005
- •
- Finding
An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.
Impaired oropharyngeal swallow response- MedGen UID:
- 1380475
- •Concept ID:
- C4477013
- •
- Finding
Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.
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.
Athetosis- MedGen UID:
- 2115
- •Concept ID:
- C0004158
- •
- Disease or Syndrome
A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
Chorea- MedGen UID:
- 3420
- •Concept ID:
- C0008489
- •
- Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Gliosis- MedGen UID:
- 4899
- •Concept ID:
- C0017639
- •
- Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Abnormality of movement- MedGen UID:
- 10113
- •Concept ID:
- C0026650
- •
- Disease or Syndrome
An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
Myoclonus- MedGen UID:
- 10234
- •Concept ID:
- C0027066
- •
- Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Peripheral neuropathy- MedGen UID:
- 18386
- •Concept ID:
- C0031117
- •
- Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
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.
Polyneuropathy- MedGen UID:
- 57502
- •Concept ID:
- C0152025
- •
- Disease or Syndrome
A generalized disorder of peripheral nerves.
Dysmetria- MedGen UID:
- 68583
- •Concept ID:
- C0234162
- •
- Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Suck reflex- MedGen UID:
- 65864
- •Concept ID:
- C0234174
- •
- Organism Function
A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.
Action tremor- MedGen UID:
- 65875
- •Concept ID:
- C0234376
- •
- Sign or Symptom
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
Pain insensitivity- MedGen UID:
- 488855
- •Concept ID:
- C0344307
- •
- Finding
Inability to perceive painful stimuli.
Involuntary movements- MedGen UID:
- 140884
- •Concept ID:
- C0427086
- •
- Sign or Symptom
Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Apnea, central sleep- MedGen UID:
- 99249
- •Concept ID:
- C0520680
- •
- Disease or Syndrome
Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing.
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.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Decreased CSF albumin concentration- MedGen UID:
- 1374734
- •Concept ID:
- C1168004
- •
- Finding
CSF albumin level is below the lower limit of normal.
Delayed myelination- MedGen UID:
- 224820
- •Concept ID:
- C1277241
- •
- Finding
Delayed myelination.
Decreased sensory nerve conduction velocity- MedGen UID:
- 336512
- •Concept ID:
- C1849148
- •
- Finding
Reduced speed of conduction of the action potential along a sensory nerve.
Motor regression- MedGen UID:
- 478627
- •Concept ID:
- C3276997
- •
- Finding
Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.
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.
Hyperkinetic movements- MedGen UID:
- 854367
- •Concept ID:
- C3887506
- •
- Disease or Syndrome
Motor hyperactivity with excessive movement of muscles of the body as a whole.
Restlessness- MedGen UID:
- 854457
- •Concept ID:
- C3887611
- •
- Sign or Symptom
A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.
Delayed CNS myelination- MedGen UID:
- 867393
- •Concept ID:
- C4021758
- •
- Anatomical Abnormality
Delayed myelination in the central nervous system.
Reduced brain N-acetyl aspartate level by MRS- MedGen UID:
- 868367
- •Concept ID:
- C4022761
- •
- Finding
A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).
Elevated brain choline level by MRS- MedGen UID:
- 868369
- •Concept ID:
- C4022763
- •
- Finding
An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).
Myoclonic seizure- MedGen UID:
- 1385980
- •Concept ID:
- C4317123
- •
- Sign or Symptom
A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
Decreased CSF 5-hydroxyindolacetic acid concentration- MedGen UID:
- 1377914
- •Concept ID:
- C4476788
- •
- Finding
5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal.
High myoinositol in brain by MRS- MedGen UID:
- 1382727
- •Concept ID:
- C4476792
- •
- Finding
An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).
Decreased CSF/serum albumin ratio- MedGen UID:
- 1374729
- •Concept ID:
- C4476891
- •
- Finding
A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.
Reduced brain glutamine level by MRS- MedGen UID:
- 1393827
- •Concept ID:
- C4476893
- •
- Finding
An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).
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.
Osteoporosis- MedGen UID:
- 14535
- •Concept ID:
- C0029456
- •
- Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Brachycephaly- MedGen UID:
- 113165
- •Concept ID:
- C0221356
- •
- Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Facial hypotonia- MedGen UID:
- 336889
- •Concept ID:
- C1845251
- •
- Finding
Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Intrinsic hand muscle atrophy- MedGen UID:
- 351202
- •Concept ID:
- C1864716
- •
- Finding
Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Respiratory distress- MedGen UID:
- 96907
- •Concept ID:
- C0476273
- •
- Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
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.
Fever- MedGen UID:
- 5169
- •Concept ID:
- C0015967
- •
- Sign or Symptom
Body temperature elevated above the normal range.
Elevated circulating alpha-fetoprotein concentration- MedGen UID:
- 65916
- •Concept ID:
- C0235971
- •
- Finding
Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.
Hyper-beta-alaninemia- MedGen UID:
- 75702
- •Concept ID:
- C0268630
- •
- Disease or Syndrome
An increased concentration of alanine in the blood.
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 hepatic transaminase concentration- MedGen UID:
- 338525
- •Concept ID:
- C1848701
- •
- Finding
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.
Open mouth- MedGen UID:
- 116104
- •Concept ID:
- C0240379
- •
- Finding
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Narrow face- MedGen UID:
- 373334
- •Concept ID:
- C1837463
- •
- Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
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).
Pointed chin- MedGen UID:
- 336193
- •Concept ID:
- C1844505
- •
- Finding
A marked tapering of the lower face to the chin.
Small forehead- MedGen UID:
- 336888
- •Concept ID:
- C1845250
- •
- Finding
The presence of a forehead that is abnormally small.
Midface retrusion- MedGen UID:
- 339938
- •Concept ID:
- C1853242
- •
- Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Sunken cheeks- MedGen UID:
- 869726
- •Concept ID:
- C4024154
- •
- Finding
Lack or loss of the soft tissues between the zygomata and mandible.
Anhidrosis- MedGen UID:
- 1550
- •Concept ID:
- C0003028
- •
- Disease or Syndrome
Inability to sweat.
Hyperhidrosis- MedGen UID:
- 5690
- •Concept ID:
- C0020458
- •
- Finding
Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
Ptosis- MedGen UID:
- 2287
- •Concept ID:
- C0005745
- •
- Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Corneal opacity- MedGen UID:
- 40485
- •Concept ID:
- C0010038
- •
- Finding
A reduction of corneal clarity.
Corneal ulceration- MedGen UID:
- 40486
- •Concept ID:
- C0010043
- •
- Disease or Syndrome
Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Alacrima- MedGen UID:
- 87488
- •Concept ID:
- C0344505
- •
- Disease or Syndrome
Absence of tear secretion.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the ear
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Constitutional symptom
- Growth abnormality