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Items: 1 to 20 of 44

1.

synpolydactyly

MedGen UID:
893257
Concept ID:
CN238761
Finding
2.

Synpolydactyly 1

Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986). In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions (Goodman et al., 1998). Malik (2012) reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes. Genetic Heterogeneity of Synpolydactyly See also SPD2 (608180), caused by mutation in the fibulin-1 gene (FBLN1; 135820) on chromosome 22q13, and SPD3 (610234), which has been mapped to chromosome 14q11.2-q12. [from OMIM]

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

Abnormality

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

MedGen UID:
309940
Concept ID:
C1704258
Finding
4.

Protein Function

The action of enzymes, regulators, chaperones etc. [from NCI]

MedGen UID:
279606
Concept ID:
C1527118
Molecular Function
5.

metaplastic cell transformation

The conversion of a cell from a normal phenotype, which undergoes a limited number of mitotic divisions, into an aberrant phenotype that is immortal and divides indefinitely. Transformed cells no longer retain cell-cycle checkpoints and may ultimately become malignant cancer cells via additional genetic mutations, or damaging environmental events. [from NCI]

MedGen UID:
266929
Concept ID:
C1510411
Pathologic Function
6.

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
7.

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
8.

Polydactyly

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

MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
9.

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
10.

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
11.

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
12.

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
13.

Disorder of musculoskeletal system

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

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
14.

genetic linkage

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
15.

Dysostosis

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

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

Congenital Abnormality

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

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
18.

Symphalangism of toes

MedGen UID:
396129
Concept ID:
C1861418
Disease or Syndrome
19.

Synpolydactyly with foot anomalies

MedGen UID:
396118
Concept ID:
C1861368
Disease or Syndrome
20.

Synpolydactyly 2

MedGen UID:
331290
Concept ID:
C1842422
Disease or Syndrome
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