From HPO
Horseshoe kidney- MedGen UID:
- 65140
- •Concept ID:
- C0221353
- •
- Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Ectopic testis- MedGen UID:
- 473023
- •Concept ID:
- C0302889
- •
- Congenital Abnormality
Localization of the testis in an anatomic location other than the scrotum.
Renal cyst- MedGen UID:
- 854361
- •Concept ID:
- C3887499
- •
- Disease or Syndrome
A fluid filled sac in the kidney.
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.
Hallux valgus- MedGen UID:
- 5416
- •Concept ID:
- C0018536
- •
- Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
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.
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 distal phalanx of finger- MedGen UID:
- 326590
- •Concept ID:
- C1839829
- •
- Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Ventricular septal defect- MedGen UID:
- 42366
- •Concept ID:
- C0018818
- •
- Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Bilateral superior vena cava- MedGen UID:
- 576402
- •Concept ID:
- C0344659
- •
- Congenital Abnormality
The presence of a left and a right superior vena cava.
Fetal growth restriction- MedGen UID:
- 4693
- •Concept ID:
- C0015934
- •
- Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
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).
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
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).
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.
Chiari malformation- MedGen UID:
- 2065
- •Concept ID:
- C0003803
- •
- Congenital Abnormality
Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.
Delayed ability to walk- MedGen UID:
- 66034
- •Concept ID:
- C0241726
- •
- Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Delayed speech and language development- MedGen UID:
- 105318
- •Concept ID:
- C0454644
- •
- Finding
A degree of language development that is significantly below the norm for a child of a specified age.
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.
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.
Cerebral cortical atrophy- MedGen UID:
- 1646740
- •Concept ID:
- C4551583
- •
- Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Craniosynostosis syndrome- MedGen UID:
- 1163
- •Concept ID:
- C0010278
- •
- Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Metaphyseal chondrodysplasia- MedGen UID:
- 120528
- •Concept ID:
- C0265290
- •
- Congenital Abnormality
An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.
Macrocephaly- MedGen UID:
- 745757
- •Concept ID:
- C2243051
- •
- Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Metaphyseal dysplasia- MedGen UID:
- 1677924
- •Concept ID:
- C5194606
- •
- Disease or Syndrome
The presence of dysplastic regions in metaphyseal regions.
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Absent eyebrow- MedGen UID:
- 98133
- •Concept ID:
- C0431448
- •
- Congenital Abnormality
Absence of the eyebrow.
Sparse eyebrow- MedGen UID:
- 371332
- •Concept ID:
- C1832446
- •
- Finding
Decreased density/number of eyebrow hairs.
Underdeveloped nasal alae- MedGen UID:
- 322332
- •Concept ID:
- C1834055
- •
- Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Thick vermilion border- MedGen UID:
- 332232
- •Concept ID:
- C1836543
- •
- Finding
Increased width of the skin of vermilion border region of upper lip.
Broad columella- MedGen UID:
- 376932
- •Concept ID:
- C1851059
- •
- Finding
Increased width of the columella.
High anterior hairline- MedGen UID:
- 477667
- •Concept ID:
- C3276036
- •
- Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.
Alopecia- MedGen UID:
- 7982
- •Concept ID:
- C0002170
- •
- Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Ichthyosis- MedGen UID:
- 7002
- •Concept ID:
- C0020757
- •
- Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Cafe-au-lait spot- MedGen UID:
- 113157
- •Concept ID:
- C0221263
- •
- Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Small nail- MedGen UID:
- 537942
- •Concept ID:
- C0263523
- •
- Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Absent eyelashes- MedGen UID:
- 334299
- •Concept ID:
- C1843005
- •
- Congenital Abnormality
Lack of eyelashes.
Sparse eyelashes- MedGen UID:
- 375151
- •Concept ID:
- C1843300
- •
- Finding
Decreased density/number of eyelashes.
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.
Night blindness- MedGen UID:
- 10349
- •Concept ID:
- C0028077
- •
- Disease or Syndrome
Inability to see well at night or in poor light.
Retinal degeneration- MedGen UID:
- 48432
- •Concept ID:
- C0035304
- •
- Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Peripheral visual field loss- MedGen UID:
- 116124
- •Concept ID:
- C0241688
- •
- Finding
Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
Hypoautofluorescent retinal lesion- MedGen UID:
- 1369889
- •Concept ID:
- C4476624
- •
- Finding
Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
Rod-cone dystrophy- MedGen UID:
- 1632921
- •Concept ID:
- C4551714
- •
- Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation
- Growth abnormality