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Items: 1 to 20 of 25

1.

Serine

A non-essential amino acid in humans (synthesized by the body), Serine is present and functionally important in many proteins. With an alcohol group, serine is needed for the metabolism of fats, fatty acids, and cell membranes; muscle growth; and a healthy immune system. It also plays a major role in pyrimidine, purine, creatine, and porphyrin biosynthetic pathways. Serine is also found at the active site of the serine protease enzyme class that includes trypsin and chymotrypsin. (NCI04) [from NCI]

MedGen UID:
11382
Concept ID:
C0036720
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
2.

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
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
3.

Dwarfism

A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. [from MeSH]

MedGen UID:
3931
Concept ID:
C0013336
Congenital Abnormality
4.

Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty

MedGen UID:
850705
Concept ID:
CN231399
Finding
5.

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
6.

Disproportionate short-limb short stature

A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [from HPO]

MedGen UID:
342370
Concept ID:
C1849937
Finding
7.

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 GTR]

MedGen UID:
107448
Concept ID:
C0542428
Congenital Abnormality
8.

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 GTR]

MedGen UID:
20916
Concept ID:
C0038015
Disease or Syndrome; Finding
9.

Achondrogenesis

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

MedGen UID:
84
Concept ID:
C0001079
Congenital Abnormality
10.

HELIX SYNDROME

MedGen UID:
1132668
Concept ID:
CN469329
Disease or Syndrome
11.

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
12.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues. [from HPO]

MedGen UID:
505316
Concept ID:
CN002411
Finding
13.

Abnormality

A condition that differs from the usual physical or mental state. [from NCI]

MedGen UID:
309940
Concept ID:
C1704258
Finding
14.

Skeletal dysplasia

MedGen UID:
98053
Concept ID:
C0410528
Congenital Abnormality
15.

Dysplasia

A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
16.

Achondrogenesis, type II

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 GTR]

MedGen UID:
66315
Concept ID:
C0220685
Congenital Abnormality
17.

Osteochondrodysplasia

A general term describing features characterized by abnormal development of bones and connective tissues. [from HPO]

MedGen UID:
10495
Concept ID:
C0029422
Disease or Syndrome
18.

Avitene

MedGen UID:
149149
Concept ID:
C0733516
Amino Acid, Peptide, or Protein; Biomedical or Dental Material; Pharmacologic Substance
19.

Restriction Fragment Length Polymorphism

Variation occurring within a species in the length of DNA fragments generated by a specific endonuclease. Such variations are generated by mutations that create or abolish recognition sites for these enzymes. [from NCI]

MedGen UID:
20546
Concept ID:
C0035268
Cell or Molecular Dysfunction
20.

Disorder of bone

Diseases of BONES. [from MeSH]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
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