From HPO
Leukemia- MedGen UID:
- 9725
- •Concept ID:
- C0023418
- •
- Neoplastic Process
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Cubitus valgus- MedGen UID:
- 490152
- •Concept ID:
- C0158465
- •
- Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
Coarctation of aorta- MedGen UID:
- 1617
- •Concept ID:
- C0003492
- •
- Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Hypertrophic cardiomyopathy- MedGen UID:
- 2881
- •Concept ID:
- C0007194
- •
- Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Patent ductus arteriosus- MedGen UID:
- 4415
- •Concept ID:
- C0013274
- •
- Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Atrial septal defect- MedGen UID:
- 6753
- •Concept ID:
- C0018817
- •
- Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
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.
Mitral stenosis- MedGen UID:
- 44466
- •Concept ID:
- C0026269
- •
- Disease or Syndrome
An abnormal narrowing of the orifice of the mitral valve.
Cardiomyopathy- MedGen UID:
- 209232
- •Concept ID:
- C0878544
- •
- Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Atrioventricular septal defect- MedGen UID:
- 501123
- •Concept ID:
- C1389018
- •
- Congenital Abnormality
The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006).
AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992).
Genetic Heterogeneity of Isolated Atrioventricular Septal Defect
An AVSD susceptibility locus (AVSD1) maps to chromosome 1p31-p21; AVSD2 (606217) is caused by mutation in the CRELD1 gene (607170) on chromosome 3p25; AVSD4 (614430) is caused by mutation in the GATA4 gene (600576) on chromosome 8p23.1; and AVSD5 (614474) is caused by mutation in the GATA6 gene (601656) on chromosome 18q11.
A form of AVSD, designated AVSD3, was thought to be caused by mutation in the GJA1 gene (121014.0011), but this variant has been reclassified as a variant of unknown significance.
Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with AVSDs.
Pulmonic stenosis- MedGen UID:
- 408291
- •Concept ID:
- C1956257
- •
- Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Abnormal coronary artery origin- MedGen UID:
- 868843
- •Concept ID:
- C4023253
- •
- Anatomical Abnormality
Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.
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).
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.
Posteriorly rotated ears- MedGen UID:
- 96566
- •Concept ID:
- C0431478
- •
- Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
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
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Arthrogryposis multiplex congenita- MedGen UID:
- 2455
- •Concept ID:
- C0003886
- •
- Finding
Multiple congenital contractures in different body areas.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
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.
Shield chest- MedGen UID:
- 322348
- •Concept ID:
- C1834124
- •
- Finding
A broad chest.
Relative macrocephaly- MedGen UID:
- 338607
- •Concept ID:
- C1849075
- •
- Congenital Abnormality
A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
Abnormal sternum morphology- MedGen UID:
- 349830
- •Concept ID:
- C1860493
- •
- Anatomical Abnormality
An anomaly of the sternum, also known as the breastbone.
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.
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Epicanthus- MedGen UID:
- 151862
- •Concept ID:
- C0678230
- •
- Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Sparse eyebrow- MedGen UID:
- 371332
- •Concept ID:
- C1832446
- •
- Finding
Decreased density/number of eyebrow hairs.
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.
Low posterior hairline- MedGen UID:
- 383755
- •Concept ID:
- C1855728
- •
- Finding
Hair on the neck extends more inferiorly than usual.
Underdeveloped supraorbital ridges- MedGen UID:
- 349384
- •Concept ID:
- C1861869
- •
- Congenital Abnormality
Flatness of the supraorbital portion of the frontal bones.
Nevus- MedGen UID:
- 45074
- •Concept ID:
- C0027960
- •
- Neoplastic Process
A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
Hyperpigmentation of the skin- MedGen UID:
- 57992
- •Concept ID:
- C0162834
- •
- Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
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.
Hyperextensible skin- MedGen UID:
- 66023
- •Concept ID:
- C0241074
- •
- Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Curly hair- MedGen UID:
- 488919
- •Concept ID:
- C0558165
- •
- Finding
Hyperkeratosis- MedGen UID:
- 209030
- •Concept ID:
- C0870082
- •
- Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Palmoplantar cutis laxa- MedGen UID:
- 341602
- •Concept ID:
- C1856714
- •
- Finding
Loose, wrinkled skin of hands and feet.
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Increased nuchal translucency- MedGen UID:
- 869253
- •Concept ID:
- C4023676
- •
- Finding
Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).
Wide intermamillary distance- MedGen UID:
- 473489
- •Concept ID:
- C1827524
- •
- Finding
A larger than usual distance between the left and right nipple.
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).
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).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of prenatal development or birth
- Abnormality of the breast
- Abnormality of the cardiovascular 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
- Growth abnormality
- Neoplasm