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Results: 1 to 20 of 43

1.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
2.

Acrocephalosyndactyly type I

The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings. [from GeneReviews]

MedGen UID:
7858
Concept ID:
C0001193
Congenital Abnormality
3.

Aging

Progressive damage to mitochondrial DNA (mtDNA) during life is thought to contribute to aging processes. This notion is supported by the observation of an aging-related accumulation in human mtDNA of oxidative and alkylation derivatives of nucleotides, of small deletions and insertions, and of large deletions, although their low frequency raises questions about their functional significance (Michikawa et al., 1999). [from OMIM]

MedGen UID:
1376
Concept ID:
C0001811
4.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
5.

Spastic paraplegia epilepsy mental retardation

MedGen UID:
356631
Concept ID:
C1866854
Disease or Syndrome
6.

Acrocephalosyndactyly

Congenital craniostenosis with syndactyly. [from MeSH]

MedGen UID:
267602
Concept ID:
C1510455
Congenital Abnormality
7.

Senility

MedGen UID:
115903
Concept ID:
C0231337
Finding
8.

Brachycephaly

Premature closing of both sides of the coronal sutures. [from MeSH]

MedGen UID:
113165
Concept ID:
C0221356
Disease or Syndrome
9.

Craniofacial Abnormalities

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. [from MeSH]

MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
10.

Metopic synostosis

Premature fusion of the metopic suture. [from MeSH]

MedGen UID:
82713
Concept ID:
C0265535
Congenital Abnormality
11.

Scaphycephaly

Premature fusion of the sagittal suture. [from MeSH]

MedGen UID:
82712
Concept ID:
C0265534
Congenital Abnormality
12.

Polysyndactyly

MedGen UID:
78565
Concept ID:
C0265553
Congenital Abnormality
13.

Plagiocephaly

The condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the head. It can either result from the premature CRANIAL SUTURE closure (CRANIOSYNOSTOSIS) or from external forces (NONSYNOSTOTIC PLAGIOCEPHALY). [from MeSH]

MedGen UID:
78562
Concept ID:
C0265529
Congenital Abnormality
14.

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
15.

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
Disease or Syndrome
16.

Syndactyly

A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements. [from MeSH]

MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
17.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Disease or Syndrome
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.

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
20.

Oxycephaly

Premature closing of the lambdoid and coronal sutures. [from MeSH]

MedGen UID:
10522
Concept ID:
C0030044
Disease or Syndrome

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