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 29

1.

Collagenopathy type 2 alpha 1

MedGen UID:
419326
Concept ID:
C2931073
Disease or Syndrome
2.

Hypochondrogenesis

Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis. Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Bones in the skull develop normally, but the bones of the spine (vertebrae) and pelvis do not harden (ossify) properly. The face appears flat and oval-shaped, with widely spaced eyes, a small chin, and, in some cases, an opening in the roof of the mouth called a cleft palate. Individuals with hypochondrogenesis have an enlarged abdomen and may have a condition called hydrops fetalis in which excess fluid builds up in the body before birth. As a result of these serious health problems, some affected fetuses do not survive to term. Infants born with hypochondrogenesis usually die at birth or shortly thereafter from respiratory failure. Babies who live past the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related but milder disorder that similarly affects bone development.
[from GHR]

MedGen UID:
107448
Concept ID:
C0542428
Congenital Abnormality
3.

Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990). [from OMIM]

MedGen UID:
20916
Concept ID:
C0038015
Disease or Syndrome
4.

Glycine

A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. [from MeSH]

MedGen UID:
6636
Concept ID:
C0017890
Pharmacologic Substance
5.

Dwarfism

Short stature that usually results from genetic mutations. Other causes include hormonal deficiencies and poor nutrition. [from NCI]

MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
6.

Achondrogenesis

A rare group of disorders characterized by defective development of bones and cartilage. [from NCI]

MedGen UID:
84
Concept ID:
C0001079
Congenital Abnormality
7.

Spondyloepiphyseal dysplasia

A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). [from HPO]

MedGen UID:
505319
Concept ID:
CN002414
Finding
8.

Severe short stature

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [from HPO]

MedGen UID:
500957
Concept ID:
CN003167
Finding
9.

Spondyloepiphyseal dysplasia, congenita

MedGen UID:
412530
Concept ID:
C2745959
Congenital Abnormality
10.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
11.

Severity

Used of the degree of something undesirable e.g. pain or weather; also, strictness. [from NCI]

MedGen UID:
141003
Concept ID:
C0439793
12.

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
13.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
14.

Dysplasia

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

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
15.

Achondrogenesis type 2

Achondrogenesis type II is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. This form is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010). [from OMIM]

MedGen UID:
66315
Concept ID:
C0220685
Congenital Abnormality
16.

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
17.

MedGen UID:
149149
Concept ID:
C0733516
18.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
19.

Disorder of bone

Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D and exercise. . There are many kinds of bone problems:: - Low bone density and osteoporosis, which make your bones weak and more likely to break . - Osteogenesis imperfecta makes your bones brittle . - Paget's disease of bone makes them weak . - Bone disease can make bones easy to break . - Bones can also develop cancer and infections. - Other bone diseases are caused by poor nutrition, genetic factors or problems with the rate of bone growth or rebuilding. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
20.

Osteochondrodysplasia

Abnormal development of cartilage and bone. [from MeSH]

MedGen UID:
10495
Concept ID:
C0029422
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...