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Results: 1 to 20 of 23

1.

siomycin A

MedGen UID:
22971
Concept ID:
C0074575
Pharmacologic Substance
2.

siomycin

MedGen UID:
22970
Concept ID:
C0074574
Pharmacologic Substance
3.

Agar

A complex sulfated polymer of galactose units, extracted from Gelidium cartilagineum, Gracilaria confervoides, and related red algae. It is used as a gel in the preparation of solid culture media for microorganisms, as a bulk laxative, in making emulsions, and as a supporting medium for immunodiffusion and immunoelectrophoresis. [from MeSH]

MedGen UID:
7923
Concept ID:
C0001771
Pharmacologic Substance
4.

SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
5.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
6.

Able

MedGen UID:
721424
Concept ID:
C1299581
Finding
7.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
472512
Concept ID:
CN143712
Disease or Syndrome
8.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
9.

Peptide Biosynthesis

The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. [CHEBI:16670, GOC:dph, GOC:jl] [from GO]

MedGen UID:
272130
Concept ID:
C1327133
Molecular Function
10.

Protein Modification, Translational

Any of the enzymatically catalyzed modifications of the individual AMINO ACIDS of PROTEINS, and enzymatic cleavage or crosslinking of peptide chains that occur pre-translationally (on the amino acid component of AMINO ACYL TRNA), co-translationally (during the process of GENETIC TRANSLATION), or after translation is completed (POST-TRANSLATIONAL PROTEIN PROCESSING). [from MeSH]

MedGen UID:
260537
Concept ID:
C1449566
Molecular Function
11.

Sarcoma

A malignant mesenchymal neoplasm. A general term for which the transformed cell type has not been specified. [from NCI]

MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
12.

MedGen UID:
108933
Concept ID:
C0597295
13.

Neoplasms, Bone Tissue

Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones. [from MeSH]

MedGen UID:
104905
Concept ID:
C0206639
Neoplastic Process
14.

Epithelioid sarcoma

An aggressive malignant neoplasm of uncertain lineage, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma). [from NCI]

MedGen UID:
104753
Concept ID:
C0205944
Neoplastic Process
15.

Connective and Soft Tissue Neoplasm

Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue. [from MeSH]

MedGen UID:
60224
Concept ID:
C0206765
Neoplastic Process
16.

Protein Processing, Post-Translational

Any of various enzymatically catalyzed post-translational modifications of PEPTIDES or PROTEINS in the cell of origin. These modifications include carboxylation; HYDROXYLATION; ACETYLATION; PHOSPHORYLATION; METHYLATION; GLYCOSYLATION; ubiquitination; oxidation; proteolysis; and crosslinking and result in changes in molecular weight and electrophoretic motility. [from MeSH]

MedGen UID:
46159
Concept ID:
C0033666
Molecular Function
17.

Neoplasm of connective tissues

Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. [from MeSH]

MedGen UID:
45035
Concept ID:
C0027656
Neoplastic Process
18.

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
19.

Phosphorylation

A process in which a phosphate group is added to a molecule, such as a sugar or a protein. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
20.

Osteosarcoma

A malignant neoplasm usually arising from bone. [from NCI]

MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process

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