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.
Finger swelling- MedGen UID:
- 65989
- •Concept ID:
- C0239598
- •
- Finding
Enlargement of the soft tissues of one or more fingers.
Protrusio acetabuli- MedGen UID:
- 98369
- •Concept ID:
- C0409495
- •
- Anatomical Abnormality
Intrapelvic bulging of the medial acetabular wall.
Pes cavus- MedGen UID:
- 675590
- •Concept ID:
- C0728829
- •
- Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Carpal osteolysis- MedGen UID:
- 318954
- •Concept ID:
- C1833734
- •
- Pathologic Function
Osteolysis affecting carpal bones.
Osteolysis involving tarsal bones- MedGen UID:
- 322262
- •Concept ID:
- C1833735
- •
- Pathologic Function
An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.
Ankle flexion contracture- MedGen UID:
- 332440
- •Concept ID:
- C1837407
- •
- Anatomical Abnormality
Broad metacarpals- MedGen UID:
- 330796
- •Concept ID:
- C1842229
- •
- Finding
Abnormally broad metacarpal bones.
Broad metatarsal- MedGen UID:
- 330797
- •Concept ID:
- C1842231
- •
- Finding
Increased side-to-side width of a metatarsal bone.
Interphalangeal joint erosions- MedGen UID:
- 340477
- •Concept ID:
- C1850158
- •
- Finding
Widened metacarpal shaft- MedGen UID:
- 340478
- •Concept ID:
- C1850159
- •
- Finding
Thin metacarpal cortices- MedGen UID:
- 376718
- •Concept ID:
- C1850160
- •
- Finding
Thin metatarsal cortices- MedGen UID:
- 342430
- •Concept ID:
- C1850162
- •
- Finding
Metacarpal osteolysis- MedGen UID:
- 343165
- •Concept ID:
- C1854610
- •
- Finding
Metatarsal osteolysis- MedGen UID:
- 344327
- •Concept ID:
- C1854614
- •
- Finding
Osteolysis involving metatarsal bones.
Split hand- MedGen UID:
- 397570
- •Concept ID:
- C2699510
- •
- Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.
Distal tapering of metatarsals- MedGen UID:
- 870287
- •Concept ID:
- C4024729
- •
- Anatomical Abnormality
Mitral valve prolapse- MedGen UID:
- 7671
- •Concept ID:
- C0026267
- •
- Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
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).
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
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.
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).
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
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.
Hypoplasia of the maxilla- MedGen UID:
- 66804
- •Concept ID:
- C0240310
- •
- Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Vertebral compression fracture- MedGen UID:
- 75497
- •Concept ID:
- C0262431
- •
- Finding
Wrist flexion contracture- MedGen UID:
- 592338
- •Concept ID:
- C0409345
- •
- Acquired Abnormality
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
Hip contracture- MedGen UID:
- 140815
- •Concept ID:
- C0409354
- •
- Acquired Abnormality
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
Wide cranial sutures- MedGen UID:
- 140825
- •Concept ID:
- C0410935
- •
- Finding
An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).
Kyphoscoliosis- MedGen UID:
- 154361
- •Concept ID:
- C0575158
- •
- Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Thin bony cortex- MedGen UID:
- 318844
- •Concept ID:
- C1833325
- •
- Finding
Abnormal thinning of the cortical region of bones.
C1-C2 subluxation- MedGen UID:
- 376359
- •Concept ID:
- C1848446
- •
- Finding
A partial dislocation of the atlantoaxial joints.
Metaphyseal widening- MedGen UID:
- 341364
- •Concept ID:
- C1849039
- •
- Finding
Abnormal widening of the metaphyseal regions of long bones.
Delayed closure of the anterior fontanelle- MedGen UID:
- 825928
- •Concept ID:
- C3840083
- •
- Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Camptodactyly of toe- MedGen UID:
- 867404
- •Concept ID:
- C4021774
- •
- Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Interphalangeal joint contracture of finger- MedGen UID:
- 867413
- •Concept ID:
- C4021784
- •
- Anatomical Abnormality
Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.
Ankylosis of feet small joints- MedGen UID:
- 870290
- •Concept ID:
- C4024732
- •
- Disease or Syndrome
Sclerotic cranial sutures- MedGen UID:
- 870740
- •Concept ID:
- C4025195
- •
- Finding
An increased density in the cranial sutures following obliteration.
Antinuclear antibody positivity- MedGen UID:
- 101792
- •Concept ID:
- C0151480
- •
- Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
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.
Bulbous nose- MedGen UID:
- 66013
- •Concept ID:
- C0240543
- •
- Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Gingival overgrowth- MedGen UID:
- 87712
- •Concept ID:
- C0376480
- •
- Finding
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Coarse facial features- MedGen UID:
- 335284
- •Concept ID:
- C1845847
- •
- Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Narrow nasal bridge- MedGen UID:
- 1641596
- •Concept ID:
- C4551564
- •
- Finding
Decreased width of the bony bridge of the nose.
Hirsutism- MedGen UID:
- 42461
- •Concept ID:
- C0019572
- •
- Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Subcutaneous nodule- MedGen UID:
- 101803
- •Concept ID:
- C0151811
- •
- Pathologic Function
Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
Thickened skin- MedGen UID:
- 66024
- •Concept ID:
- C0241165
- •
- Finding
Laminar thickening of skin.
Hypermelanotic macule- MedGen UID:
- 375013
- •Concept ID:
- C1842774
- •
- Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Corneal opacity- MedGen UID:
- 40485
- •Concept ID:
- C0010038
- •
- Finding
A reduction of corneal clarity.
Proptosis- MedGen UID:
- 41917
- •Concept ID:
- C0015300
- •
- Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
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).
Peripheral opacification of the cornea- MedGen UID:
- 509788
- •Concept ID:
- C0155100
- •
- Finding
Reduced transparency of the peripheral region of the cornea.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Growth abnormality