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).
Pelvic kidney- MedGen UID:
- 67446
- •Concept ID:
- C0221209
- •
- Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.
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 kidney- MedGen UID:
- 68661
- •Concept ID:
- C0238207
- •
- Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
Renal duplication- MedGen UID:
- 488826
- •Concept ID:
- C0266298
- •
- Congenital Abnormality
A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.
Renal agenesis- MedGen UID:
- 154237
- •Concept ID:
- C0542519
- •
- Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Duplicated collecting system- MedGen UID:
- 346936
- •Concept ID:
- C1858565
- •
- Anatomical Abnormality
A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.
Micropenis- MedGen UID:
- 1633603
- •Concept ID:
- C4551492
- •
- Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Short thumb- MedGen UID:
- 98469
- •Concept ID:
- C0431890
- •
- Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
Preaxial hand polydactyly- MedGen UID:
- 237235
- •Concept ID:
- C1395852
- •
- Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Absent radius- MedGen UID:
- 235613
- •Concept ID:
- C1405984
- •
- Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Aplasia of the 1st metacarpal- MedGen UID:
- 333137
- •Concept ID:
- C1838610
- •
- Finding
Absent first metacarpal (long bone) of the hand.
Absent thumb- MedGen UID:
- 480441
- •Concept ID:
- C3278811
- •
- Finding
Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Complete duplication of thumb phalanx- MedGen UID:
- 767638
- •Concept ID:
- C3554724
- •
- Finding
A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
Partial duplication of thumb phalanx- MedGen UID:
- 909031
- •Concept ID:
- C4082168
- •
- Anatomical Abnormality
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
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.
Abnormal heart morphology- MedGen UID:
- 6748
- •Concept ID:
- C0018798
- •
- Congenital Abnormality
Any structural anomaly of the heart.
Small for gestational age- MedGen UID:
- 65920
- •Concept ID:
- C0235991
- •
- Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the 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).
Esophageal atresia- MedGen UID:
- 4545
- •Concept ID:
- C0014850
- •
- Congenital Abnormality
A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.
Annular pancreas- MedGen UID:
- 56211
- •Concept ID:
- C0149955
- •
- Congenital Abnormality
A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
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.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Hydrocephalus- MedGen UID:
- 9335
- •Concept ID:
- C0020255
- •
- Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Corpus callosum, agenesis of- MedGen UID:
- 104498
- •Concept ID:
- C0175754
- •
- Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600).
Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Hypoplasia of the corpus callosum- MedGen UID:
- 138005
- •Concept ID:
- C0344482
- •
- Congenital Abnormality
Underdevelopment of the corpus callosum.
Attention deficit hyperactivity disorder- MedGen UID:
- 220387
- •Concept ID:
- C1263846
- •
- Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.
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.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Pancytopenia- MedGen UID:
- 18281
- •Concept ID:
- C0030312
- •
- Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Reticulocytopenia- MedGen UID:
- 167812
- •Concept ID:
- C0858867
- •
- Finding
A reduced number of reticulocytes in the peripheral blood.
Bone marrow hypocellularity- MedGen UID:
- 383749
- •Concept ID:
- C1855710
- •
- Finding
A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Tracheoesophageal fistula- MedGen UID:
- 21228
- •Concept ID:
- C0040588
- •
- Anatomical Abnormality
An abnormal connection (fistula) between the esophagus and the trachea.
Neutropenia- MedGen UID:
- 163121
- •Concept ID:
- C0853697
- •
- Finding
An abnormally low number of neutrophils in the peripheral blood.
Blepharophimosis- MedGen UID:
- 2670
- •Concept ID:
- C0005744
- •
- Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
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.
Bruising susceptibility- MedGen UID:
- 140849
- •Concept ID:
- C0423798
- •
- Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Abnormality of skin pigmentation- MedGen UID:
- 224697
- •Concept ID:
- C1260926
- •
- Finding
An abnormality of the pigmentation of the skin.
Anemic pallor- MedGen UID:
- 871323
- •Concept ID:
- C4025811
- •
- Sign or Symptom
A type of pallor that is secondary to the presence of anemia.
Hypergonadotropic hypogonadism- MedGen UID:
- 184926
- •Concept ID:
- C0948896
- •
- Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
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).
Microphthalmia- MedGen UID:
- 10033
- •Concept ID:
- C0026010
- •
- Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Hypotelorism- MedGen UID:
- 96107
- •Concept ID:
- C0424711
- •
- Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Chromosomal breakage induced by crosslinking agents- MedGen UID:
- 867372
- •Concept ID:
- C4021737
- •
- Finding
Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.
Prolonged G2 phase of cell cycle- MedGen UID:
- 871165
- •Concept ID:
- C4025639
- •
- Cell or Molecular Dysfunction
Deficient excision of UV-induced pyrimidine dimers in DNA- MedGen UID:
- 871166
- •Concept ID:
- C4025640
- •
- Finding
- Abnormal cellular phenotype
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the endocrine system
- 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
- Abnormality of the respiratory system
- Ear malformation
- Growth abnormality
- Neoplasm