Display Settings:

Format
Items per page

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 1 to 20 of 81

1.

Partial monosomy

MedGen UID:
419239
Concept ID:
C2930745
Cell or Molecular Dysfunction
2.

Partial trisomy

MedGen UID:
220961
Concept ID:
C1297882
Congenital Abnormality
3.

Trisomy

The possession of a third chromosome of any one type in an otherwise diploid cell. [from MeSH]

MedGen UID:
21702
Concept ID:
C0041107
Disease or Syndrome
4.

Scoliosis

An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed) [from MeSH]

MedGen UID:
11348
Concept ID:
C0036439
Anatomical Abnormality
5.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
6.

Monosomy

The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. [from MeSH]

MedGen UID:
6432
Concept ID:
C0026499
Congenital Abnormality
7.

Arthrogryposis

Arthrogryposis marked by congenital contractures involving two or more different joints with ankylosis, hypoplasia of the attached musculature, and multiple pterygia. Several types are recognized: Myopathic type is relatively rare and is characterized by muscle changes with fixed flexion deformities of the limbs and gross deformities of the chest and spine. Nuropathic type presents fixed extension or flexion deformities of the limbs. Distal type affects the distal portions of the extremities. Distal arthrogryposis is further divided into two types: At least 3 varies of X-linked distal arthrogryposis are recognized: 1. Lethal form with severe contractures, scoliosis, chest deformities, micrognathia, and death by age of 3 months. Psychomotor retardation may occur. 2. A mild to moderate forms with blepharoptosis, microphallus, cryptorchidism, inguinal hernia, and normal intelligence. 3. A sporadic form with mild symptoms which gradually improve, which is manifested main by moderate contractures and normal intelligence. Type I involves primarily the distal parts of the hands and feet and is characterized by overlapping fingers, clenched fists, ulnar deviation of the fingers, camptodactyly, positional foot anomalies, and generally normal intelligence. Type II is divided into several subtypes and, in addition to arthrogryposis, has a variety of associated findings, including short stature, cleft lip and/or palate, scoliosis, trismus, and dull intellect. [from MCA/MR]

MedGen UID:
2455
Concept ID:
C0003886
Disease or Syndrome
8.

Joint hypermobility

The ability of a joint to move beyond its normal range of motion. [from HPO]

MedGen UID:
504821
Concept ID:
CN001265
Finding
9.

Scoliosis

The presence of an abnormal lateral curvature of the spine. [from HPO]

MedGen UID:
427922
Concept ID:
CN002409
Finding
10.

Arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures, with a worldwide incidence of 1 in 3,000 live births. AMC can occur in the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). There is also a distal form of arthrogryposis multiplex congenita (see DA1A, 108120) and a lethal congenital form (see LCCS1, 253310). [from OMIM]

MedGen UID:
419371
Concept ID:
C2931264
Congenital Abnormality
11.

Arthrogryposis multiplex congenita

MedGen UID:
375261
Concept ID:
C1843695
Finding
12.

Chromosome 3, trisomy 3q

Duplication of the long arm of chromosome 3 with psychomotor retardation, characteristic facies, congenital heart anomalies, abnormal dermatoglyphic patterns, skeletal defects, and other abnormalities. The syndrome was first reported as familial de Lange syndrome (1) with chromosomal abnormalities. Manifestations of dup(3q) are similar to those in de Lange syndrome. Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de Lange syndrome, whereas craniosynostosis, cleft palate, and urinary tract anomalies are more common in dup(3q). [from MCA/MR]

MedGen UID:
208636
Concept ID:
C0795809
Disease or Syndrome
13.

Muscle hypotonia

A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching. [from MeSH]

MedGen UID:
10133
Concept ID:
C0026827
Sign or Symptom
14.

Pulmonic stenosis

Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets. [from NCI]

MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
15.

Hydronephrosis

Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER. [from MeSH]

MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
16.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
17.

Edema

Edema means swelling caused by fluid in your body's tissues. It usually occurs in the feet, ankles and legs, but it can involve your entire body. . Causes of edema include: -Eating too much salt. -Sunburn. -Heart failure. -Kidney disease. -Liver problems from cirrhosis. -Pregnancy. -Problems with lymph nodes, especially after mastectomy. -Some medicines. -Standing or walking a lot when the weather is warm. To keep swelling down, your health care provider may recommend keeping your legs raised when sitting, wearing support stockings, limiting how much salt you eat or taking a medicine called a diuretic - also called a water pill. .  [from MedlinePlus]

MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
18.

Talipes equinovarus

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). [from OMIM]

MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
19.

Aneuploidy

The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). [from MeSH]

MedGen UID:
294
Concept ID:
C0002938
Cell or Molecular Dysfunction
20.

Dysmorphism

MedGen UID:
740569
Concept ID:
C1737329
Congenital Abnormality

Display Settings:

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...