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Items: 18

1.

Metaphyseal chondrodysplasia

An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. [from HPO]

MedGen UID:
505859
Concept ID:
CN005173
Finding
2.

Metaphyseal dysostosis

An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. [from HPO]

MedGen UID:
120528
Concept ID:
C0265290
Congenital Abnormality
3.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
4.

Chondrodysplasia

MedGen UID:
91012
Concept ID:
C0343284
Congenital Abnormality
5.

Dissociation - mental defense mechanism

Used generally to describe the process whereby thoughts, attitudes, emotions, or a coordinated set of activities becomes separated from one's personality or mental processes. Compare DISSOCIATIVE DISORDERS. [from PSY]

MedGen UID:
88527
Concept ID:
C0086168
Mental or Behavioral Dysfunction
6.

Sodium lauryl sulfate

An anionic surfactant, usually a mixture of sodium alkyl sulfates, mainly the lauryl; lowers surface tension of aqueous solutions; used as fat emulsifier, wetting agent, detergent in cosmetics, pharmaceuticals and toothpastes; also as research tool in protein biochemistry. [from MeSH]

MedGen UID:
52400
Concept ID:
C0037506
Biomedical or Dental Material; Lipid; Organic Chemical; Pharmacologic Substance
7.

dodecyl sulfate

MedGen UID:
16070
Concept ID:
C0058632
Lipid; Organic Chemical; Pharmacologic Substance
8.

Context

The universe of discourse that surrounds a language unit and helps to determine its interpretation. [from NCI]

MedGen UID:
105274
Concept ID:
C0449255
Finding
9.

Hereditary spastic paraplegia

The hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness (occurring in variable proportion). When symptoms begin after childhood, they usually progress slowly and steadily. When symptoms begin in very early childhood, they may be non-progressive and resemble spastic diplegic cerebral palsy. HSP is classified as "uncomplicated" if neurologic impairment is limited to lower extremity spastic weakness, hypertonic urinary bladder disturbance, and mild diminution of lower extremity vibration sensation. HSP is classified as "complicated" if the impairment present in uncomplicated HSP is accompanied by other systemic or neurologic abnormalities such as ataxia, seizures, cognitive impairment, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy (in the absence of other causes for these additional features). Neurologic examination of individuals with uncomplicated HSP demonstrates variable degrees of increased muscle tone (spasticity) particularly in the hamstrings, quadriceps, gastrocnemius-soleus, and adductor muscles; weakness in the iliopsoas, hamstring, and tibialis anterior muscles; hyperreflexia at the patella and ankles; often (though not always) mildly reduced vibration sensation in the toes; extensor plantar responses; and spastic gait. [from GeneReviews]

MedGen UID:
20844
Concept ID:
C0037773
Disease or Syndrome
10.

Avitene

MedGen UID:
149149
Concept ID:
C0733516
Amino Acid, Peptide, or Protein; Biomedical or Dental Material; Pharmacologic Substance
11.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function
12.

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
13.

Osteochondrodysplasia

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

MedGen UID:
10495
Concept ID:
C0029422
Congenital Abnormality; Disease or Syndrome
14.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
15.

Dyschondroplasias

MedGen UID:
3933
Concept ID:
C0013366
Congenital Abnormality
16.

Disorder of bone development

Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES. [from MeSH]

MedGen UID:
2309
Concept ID:
C0005941
Disease or Syndrome
17.

Spondylometaphyseal dysplasia, megarbane-dagher-melki type

MedGen UID:
413221
Concept ID:
C2750075
Disease or Syndrome
18.

Schwartz-Jampel Syndrome, Type 11

MedGen UID:
833772
Concept ID:
CN230091
Disease or Syndrome
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