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Items: 1 to 20 of 22

1.

Cystic fibrosis

Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include progressive obstructive lung disease with bronchiectasis, frequent hospitalizations for pulmonary disease, pancreatic insufficiency and malnutrition, recurrent sinusitis and bronchitis, and male infertility. Pulmonary disease is the major cause of morbidity and mortality in CF. Meconium ileus occurs at birth in 15%-20% of newborns with CF. More than 95% of males with CF are infertile. Congenital absence of the vas deferens (CAVD) is generally identified during evaluation of infertility or as an incidental finding at the time of a surgical procedure. Hypoplasia or aplasia of the vas deferens and seminal vesicles may occur either bilaterally or unilaterally. Testicular development and function and spermatogenesis are usually normal. [from GeneReviews]

MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
2.

Fibrosis

The formation of fibrous tissue; fibroid or fibrous degeneration. [from NCI]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
3.

Recurrent pneumonia

An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. [from HPO]

MedGen UID:
505924
Concept ID:
CN005690
Finding
4.

Pneumonia

Inflammation of any part of the lung parenchyma. [from HPO]

MedGen UID:
505095
Concept ID:
CN001891
Finding
5.

Sepsis

Systemic inflammatory response to infection. [from HPO]

MedGen UID:
452029
Concept ID:
CN117696
Finding
6.

Arnold-Chiari type I malformation

MedGen UID:
341782
Concept ID:
C1857474
Finding
7.

Chiari malformation type I

Chiari malformation type I (CM1) is the protrusion of the cerebellar tonsils through the foramen magnum, defined radiologically as tonsillar descent of 5 mm or more. CM1 is associated with syringomyelia (see 186700) in up to 80% of cases. Although many individuals with CM1 are asymptomatic, the malformation can cause headaches, ocular disturbances, otoneurologic disturbances, lower cranial nerve signs, cerebellar ataxia, or spasticity. Onset of symptoms is usually in the third decade of life (Speer et al., 2003). Since many cases of CM1 are asymptomatic, prevalence estimates may not be accurate. However, a retrospective investigation of brain MRIs reported the prevalence of CM1 to be 1 in 1,280 individuals (Meadows et al., 2000). [from OMIM]

MedGen UID:
196689
Concept ID:
C0750929
Congenital Abnormality; Disease or Syndrome
8.

Failure to thrive

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [from HPO]

MedGen UID:
115900
Concept ID:
C0231246
Finding; Finding
9.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
10.

Neural tube defect

Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634), which are caused by genes involved in folate metabolism. [from OMIM]

MedGen UID:
18009
Concept ID:
C0027794
Congenital Abnormality; Finding
11.

Disorder of lung

When you breathe, your lungs take in oxygen from the air and deliver it to the bloodstream. The cells in your body need oxygen to work and grow. During a normal day, you breathe nearly 25,000 times. People with lung disease have difficulty breathing. Millions of people in the U.S. have lung disease. If all types of lung disease are lumped together, it is the number three killer in the United States. The term lung disease refers to many disorders affecting the lungs, such as asthma, COPD, infections like influenza, pneumonia and tuberculosis, lung cancer, and many other breathing problems. Some lung diseases can lead to respiratory failure. Dept. of Health and Human Services Office on Women's Health.  [from MedlinePlus]

MedGen UID:
7399
Concept ID:
C0024115
Disease or Syndrome
12.

Diastematomyelia

A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. [from NCI]

MedGen UID:
3801
Concept ID:
C0011999
Congenital Abnormality; Disease or Syndrome
13.

Chiari malformation type III

MedGen UID:
148202
Concept ID:
C0750931
Congenital Abnormality
14.

Abnormality of nervous system morphology

A structural anomaly of the nervous system. [from HPO]

MedGen UID:
776449
Concept ID:
CN183908
Finding
15.

Abnormality of the respiratory system

An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. [from HPO]

MedGen UID:
505093
Concept ID:
CN001887
Finding
16.

Abnormality of pancreas physiology

An anomaly of the function of the pancreas. [from HPO]

MedGen UID:
489603
Concept ID:
CN167817
Finding
17.

Abnormality of pancreas morphology

MedGen UID:
489602
Concept ID:
CN167816
Anatomical Abnormality
18.

Abnormality of the metencephalon

An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. [from HPO]

MedGen UID:
489107
Concept ID:
CN167011
Anatomical Abnormality
19.

Abnormality of hindbrain morphology

An abnormality of the hindbrain, also known as the rhombencephalon. [from HPO]

MedGen UID:
489106
Concept ID:
CN167010
Finding
20.

Abnormality of brainstem morphology

An anomaly of the brainstem. [from HPO]

MedGen UID:
428299
Concept ID:
CN002146
Finding
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