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Results: 1 to 20 of 42

1.

Dysplasia

Cells that look abnormal under a microscope but are not cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
2.

Metatrophic dysplasia

Metatropic dysplasia (MD) is characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement, and shortening of long bones (Genevieve et al., 2008). [from OMIM]

MedGen UID:
82699
Concept ID:
C0265281
Congenital Abnormality
3.

Recurrence (disease attribute)

The return of a sign, symptom, or disease after a remission. [from MeSH]

MedGen UID:
416712
Concept ID:
C2825055
Pathologic Function
4.

Enlargement

MedGen UID:
751217
Concept ID:
C2711450
Anatomical Abnormality
5.

Hypoplasia

Incomplete or arrested development of an organ or a part [from CHV]

MedGen UID:
537146
Concept ID:
C0243069
Pathologic Function
6.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
504300
Concept ID:
CN000006
Finding
7.

Mosaicism

The occurrence of 2 or more cell lines with different genetic or chromosomal make-up, within a single individual or tissue. [from NCI]

MedGen UID:
452472
Concept ID:
C0392053
Cell or Molecular Dysfunction
8.

Kyphoscoliosis

An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. [from HPO]

MedGen UID:
425109
Concept ID:
CN002496
Finding
9.

Phenotypic variability

MedGen UID:
381249
Concept ID:
C1853719
Finding
10.

Calcinosis

Deposits of calcium in the tissues. Calcification in the breast can be seen on a mammogram, but cannot be detected by touch. There are two types of breast calcification, macrocalcification and microcalcification. Macrocalcifications are large deposits and are usually not related to cancer. Microcalcifications are specks of calcium that may be found in an area of rapidly dividing cells. Many microcalcifications clustered together may be a sign of cancer. [from NCI]

MedGen UID:
288557
Concept ID:
C1533591
Finding
11.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
12.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
13.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
14.

Chondrodysplasia

MedGen UID:
91012
Concept ID:
C0343284
Congenital Abnormality
15.

Chronic granulomatous disease

A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
16.

Genetic Diseases, Inborn

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
17.

Disorder of vertebral column

Your backbone, or spine, is made up of 26 bone discs called vertebrae. The vertebrae protect your spinal cord and allow you to stand and bend. A number of problems can change the structure of the spine or damage the vertebrae and surrounding tissue. They include: -Infections. -Injuries. -Tumors. -Conditions, such as ankylosing spondylitis and scoliosis. -Bone changes that come with age, such as spinal stenosis and herniated disks. Spinal diseases often cause pain when bone changes put pressure on the spinal cord or nerves. They can also limit movement. Treatments differ by disease, but sometimes they include back braces and surgery.  [from MedlinePlus]

MedGen UID:
52455
Concept ID:
C0037933
Disease or Syndrome
18.

Kyphosis deformity of spine

Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback. [from MeSH]

MedGen UID:
44042
Concept ID:
C0022821
Disease or Syndrome
19.

Curvature of spine

Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS). [from MeSH]

MedGen UID:
21278
Concept ID:
C0037932
Anatomical Abnormality
20.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Disease or Syndrome

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