From HPO
Back pain- MedGen UID:
- 2530
- •Concept ID:
- C0004604
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
Hematuria- MedGen UID:
- 5488
- •Concept ID:
- C0018965
- •
- Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Nephrotic syndrome- MedGen UID:
- 10308
- •Concept ID:
- C0027726
- •
- Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
Renal insufficiency- MedGen UID:
- 332529
- •Concept ID:
- C1565489
- •
- Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Clubfoot- MedGen UID:
- 3130
- •Concept ID:
- C0009081
- •
- Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
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.
Disproportionate prominence of the femoral medial condyle- MedGen UID:
- 320339
- •Concept ID:
- C1834392
- •
- Finding
Patellar hypoplasia- MedGen UID:
- 327021
- •Concept ID:
- C1840068
- •
- Finding
Underdevelopment of the patella.
Clinodactyly of the 5th finger- MedGen UID:
- 340456
- •Concept ID:
- C1850049
- •
- Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Absent distal interphalangeal creases- MedGen UID:
- 350011
- •Concept ID:
- C1861349
- •
- Finding
Absence of the distal interphalangeal flexion creases of the fingers.
Limited elbow extension- MedGen UID:
- 401158
- •Concept ID:
- C1867103
- •
- Finding
Limited ability to straighten the arm at the elbow joint.
Patellar aplasia- MedGen UID:
- 401474
- •Concept ID:
- C1868578
- •
- Congenital Abnormality
Absence of the patella.
Hypoplastic radial head- MedGen UID:
- 867331
- •Concept ID:
- C4021695
- •
- Anatomical Abnormality
Elongated radius- MedGen UID:
- 870599
- •Concept ID:
- C4025048
- •
- Anatomical Abnormality
Increased length of the radius.
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).
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Spina bifida- MedGen UID:
- 38283
- •Concept ID:
- C0080178
- •
- Congenital Abnormality
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Iliac horns- MedGen UID:
- 120492
- •Concept ID:
- C0263925
- •
- Finding
Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.
Patellar dislocation- MedGen UID:
- 253896
- •Concept ID:
- C1135812
- •
- Injury or Poisoning
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Lumbar hyperlordosis- MedGen UID:
- 263149
- •Concept ID:
- C1184923
- •
- Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Thickening of the lateral border of the scapula- MedGen UID:
- 322404
- •Concept ID:
- C1834383
- •
- Finding
Glenoid fossa hypoplasia- MedGen UID:
- 331731
- •Concept ID:
- C1834384
- •
- Finding
Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.
Hypoplasia of first ribs- MedGen UID:
- 331732
- •Concept ID:
- C1834386
- •
- Congenital Abnormality
Absence of pectoralis minor muscle- MedGen UID:
- 401383
- •Concept ID:
- C1868158
- •
- Finding
Aplasia (congenital absence) of the pectoralis minor.
Pectus excavatum- MedGen UID:
- 781174
- •Concept ID:
- C2051831
- •
- Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Biceps aplasia- MedGen UID:
- 812094
- •Concept ID:
- C3805764
- •
- Finding
Absence of the biceps muscle.
Quadriceps aplasia- MedGen UID:
- 812095
- •Concept ID:
- C3805765
- •
- Finding
Absence of the quadriceps muscle.
Triceps aplasia- MedGen UID:
- 816814
- •Concept ID:
- C3810484
- •
- Finding
Absence of the triceps muscle.
Glomerulonephritis- MedGen UID:
- 6616
- •Concept ID:
- C0017658
- •
- Disease or Syndrome
Inflammation of the renal glomeruli.
Cleft upper lip- MedGen UID:
- 40327
- •Concept ID:
- C0008924
- •
- Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Concave nail- MedGen UID:
- 66369
- •Concept ID:
- C0221261
- •
- Finding
The natural longitudinal (posterodistal) convex arch is not present or is inverted.
Anonychia- MedGen UID:
- 120563
- •Concept ID:
- C0265998
- •
- Congenital Abnormality
Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4).
For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).
Ridged nail- MedGen UID:
- 140853
- •Concept ID:
- C0423820
- •
- Finding
Longitudinal, linear prominences in the nail plate.
Antecubital pterygium syndrome- MedGen UID:
- 401231
- •Concept ID:
- C1867439
- •
- Disease or Syndrome
Antecubital pterygium syndrome is an autosomal dominant disorder characterized by a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension, and missing skin creases over the terminal interphalangeal joints of the fingers (summary by Wallis et al., 1988).
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).
Glaucoma- MedGen UID:
- 42224
- •Concept ID:
- C0017601
- •
- Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Keratoconus- MedGen UID:
- 44015
- •Concept ID:
- C0022578
- •
- Disease or Syndrome
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Microphakia- MedGen UID:
- 78609
- •Concept ID:
- C0266541
- •
- Congenital Abnormality
Abnormal smallness of the lens.
Microcornea- MedGen UID:
- 78610
- •Concept ID:
- C0266544
- •
- Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Lester sign- MedGen UID:
- 869781
- •Concept ID:
- C4024210
- •
- Finding
A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Ear malformation
- Growth abnormality