From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Pes planus- MedGen UID:
- 42034
- •Concept ID:
- C0016202
- •
- Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Brachydactyly- MedGen UID:
- 67454
- •Concept ID:
- C0221357
- •
- Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Scapular winging- MedGen UID:
- 66822
- •Concept ID:
- C0240953
- •
- Anatomical Abnormality
Abnormal protrusion of the scapula away from the surface of the back.
Short metacarpal- MedGen UID:
- 323064
- •Concept ID:
- C1837084
- •
- Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metatarsal- MedGen UID:
- 341358
- •Concept ID:
- C1849020
- •
- Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Cone-shaped epiphyses of the middle phalanges of the hand- MedGen UID:
- 348715
- •Concept ID:
- C1860828
- •
- Finding
Swelling of proximal interphalangeal joints- MedGen UID:
- 395995
- •Concept ID:
- C1860841
- •
- Finding
Ivory epiphyses of the distal phalanges of the hand- MedGen UID:
- 866945
- •Concept ID:
- C4021301
- •
- Anatomical Abnormality
Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
Cone-shaped epiphyses of the proximal phalanges of the hand- MedGen UID:
- 869503
- •Concept ID:
- C4023931
- •
- Anatomical Abnormality
Clinodactyly- MedGen UID:
- 1644094
- •Concept ID:
- C4551485
- •
- Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Macrotia- MedGen UID:
- 488785
- •Concept ID:
- C0152421
- •
- Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Protruding ear- MedGen UID:
- 343309
- •Concept ID:
- C1855285
- •
- Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
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.
Abnormally low-pitched voice- MedGen UID:
- 869488
- •Concept ID:
- C4023915
- •
- Finding
An abnormal decrease in the pitch of the voice.
Legg-Calve-Perthes disease- MedGen UID:
- 6035
- •Concept ID:
- C0023234
- •
- Disease or Syndrome
Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004).
Hyperlordosis- MedGen UID:
- 9805
- •Concept ID:
- C0024003
- •
- Finding
Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Osteoarthritis- MedGen UID:
- 45244
- •Concept ID:
- C0029408
- •
- Disease or Syndrome
Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence.
Genetic Heterogeneity of Susceptibility to Osteoarthritis
Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11.
Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).
Osteopenia- MedGen UID:
- 18222
- •Concept ID:
- C0029453
- •
- Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Pectus carinatum- MedGen UID:
- 57643
- •Concept ID:
- C0158731
- •
- Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Delayed skeletal maturation- MedGen UID:
- 108148
- •Concept ID:
- C0541764
- •
- Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Flat capital femoral epiphysis- MedGen UID:
- 334001
- •Concept ID:
- C1842155
- •
- Finding
An abnormal flattening of the proximal epiphysis of the femur.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Accelerated bone age after puberty- MedGen UID:
- 348195
- •Concept ID:
- C1860825
- •
- Finding
Coxa magna- MedGen UID:
- 395992
- •Concept ID:
- C1860826
- •
- Disease or Syndrome
Widening of the femoral head and neck.
Infantile muscular hypotonia- MedGen UID:
- 395993
- •Concept ID:
- C1860834
- •
- Finding
Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
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.
Abnormal blood phosphate concentration- MedGen UID:
- 867643
- •Concept ID:
- C4022032
- •
- Finding
An abnormality of phosphate homeostasis or concentration in the body.
Abnormal circulating calcium concentration- MedGen UID:
- 868059
- •Concept ID:
- C4022450
- •
- Finding
Any deviation from the normal concentration of calcium in the blood circulation.
Abnormality of alkaline phosphatase level- MedGen UID:
- 892397
- •Concept ID:
- C4025328
- •
- Finding
An abnormality of alkaline phosphatase level.
Carious teeth- MedGen UID:
- 8288
- •Concept ID:
- C0011334
- •
- Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Dental malocclusion- MedGen UID:
- 9869
- •Concept ID:
- C0024636
- •
- Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Delayed eruption of teeth- MedGen UID:
- 68678
- •Concept ID:
- C0239174
- •
- Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Microdontia- MedGen UID:
- 66008
- •Concept ID:
- C0240340
- •
- Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Bulbous nose- MedGen UID:
- 66013
- •Concept ID:
- C0240543
- •
- Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Narrow palate- MedGen UID:
- 278045
- •Concept ID:
- C1398312
- •
- Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Deep philtrum- MedGen UID:
- 374311
- •Concept ID:
- C1839797
- •
- Finding
Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
Pear-shaped nose- MedGen UID:
- 377912
- •Concept ID:
- C1853482
- •
- Finding
Sparse scalp hair- MedGen UID:
- 346499
- •Concept ID:
- C1857042
- •
- Finding
Decreased number of hairs per unit area of skin of the scalp.
Sparse lateral eyebrow- MedGen UID:
- 387768
- •Concept ID:
- C1857206
- •
- Finding
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
Long philtrum- MedGen UID:
- 351278
- •Concept ID:
- C1865014
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Thin upper lip vermilion- MedGen UID:
- 355352
- •Concept ID:
- C1865017
- •
- Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Chin with horizontal crease- MedGen UID:
- 868766
- •Concept ID:
- C4023171
- •
- Finding
Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.
Thin eyebrow- MedGen UID:
- 924116
- •Concept ID:
- C4281771
- •
- Finding
Decreased diameter of eyebrow hairs.
Concave nail- MedGen UID:
- 66369
- •Concept ID:
- C0221261
- •
- Finding
The natural longitudinal (posterodistal) convex arch is not present or is inverted.
Leukonychia- MedGen UID:
- 68698
- •Concept ID:
- C0240182
- •
- Finding
White discoloration of the nails.
Thin nail- MedGen UID:
- 98073
- •Concept ID:
- C0423823
- •
- Finding
Nail that appears thin when viewed on end.
Fine hair- MedGen UID:
- 98401
- •Concept ID:
- C0423867
- •
- Finding
Hair that is fine or thin to the touch.
Slow-growing hair- MedGen UID:
- 371309
- •Concept ID:
- C1832348
- •
- Finding
Hair whose growth is slower than normal.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Constitutional symptom
- Ear malformation
- Growth abnormality