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Items: 1 to 20 of 24

1.

synpolydactyly

MedGen UID:
893257
Concept ID:
CN238761
Finding
2.

Synpolydactyly 1

A rare congenital distal limb malformation with the combination of syndactyly and polydactyly. In most cases affects the third and fourth fingers and the fourth and fifth toes bilaterally. Additional features include fifth finger clinodactyly, camptodactyly and/or brachydactyly. Inherited in an autosomal dominant manner. [from SNOMEDCT_US]

MedGen UID:
437845
Concept ID:
C2699746
Congenital Abnormality
3.

Dysostosis

MedGen UID:
833530
Concept ID:
CN229143
Finding
4.

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_NCI-GLOSS]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
5.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
6.

Axial

Situated on or along or in the direction of an axis.(WordNet) [from NCI]

MedGen UID:
64380
Concept ID:
C0205131
Spatial Concept
7.

Dysostosis

Defective bone formation involving individual bones, singly or in combination. [from MeSH]

MedGen UID:
4430
Concept ID:
C0013393
Disease or Syndrome
8.

DNA Repeat Expansion

An increase number of repeats of a genomic, tandemly repeated DNA sequence from one generation to the next. [from MeSH]

MedGen UID:
219768
Concept ID:
C1257790
Cell or Molecular Dysfunction
9.

Family health status

Overall health and social competence of family unit [from NOC]

MedGen UID:
109024
Concept ID:
C0600220
Finding
10.

Trinucleotide Repeat Expansion

An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs. [from MeSH]

MedGen UID:
99831
Concept ID:
C0524894
Cell or Molecular Dysfunction
11.

polysyndactyly

A rare anatomical malformation characterized by polydactyly (extra fingers or toes) and syndactyly (webbed fingers or toes). [from NCI]

MedGen UID:
78565
Concept ID:
C0265553
Congenital Abnormality
12.

Congenital anomaly of limb

Congenital structural deformities of the upper and lower extremities collectively or unspecified. [from MeSH]

MedGen UID:
60222
Concept ID:
C0206762
Congenital Abnormality
13.

Polydactyly

A congenital anomaly characterized by the presence of supernumerary fingers or toes. [from HPO]

MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
14.

Congenital anomaly of musculoskeletal system

An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
57466
Concept ID:
C0151491
Congenital Abnormality
15.

Syndactyly

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \ [from HPO]

MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
16.

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. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. Different kinds of bone problems include. -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 . -Bones can also develop cancer and infections. - Other bone diseases, which are caused by poor nutrition, genetics, 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
17.

Congenital abnormal Synostosis

A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorland, 27th ed) [from MeSH]

MedGen UID:
11689
Concept ID:
C0039093
Congenital Abnormality
18.

Disorder of musculoskeletal system

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

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
19.

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
20.

Congenital Abnormality

Malformations of organs or body parts during development in utero. [from MeSH]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
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