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Items: 7

1.

Robinow syndrome, autosomal recessive

Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow Syndrome See also autosomal dominant Robinow syndrome-1 (DRS1; 180700), caused by mutation in the WNT5A gene (164975) on chromosome 3p, and DRS2 (616331), caused by mutation in the DVL1 gene (601365) on chromosome 1p36. [from OMIM]

MedGen UID:
341431
Concept ID:
C1849334
Disease or Syndrome
2.

Richards-Rundle syndrome

Hearing loss, mental retardation, ataxia, hypogonadism, peripheral muscle wasting, and ketoaciduria progressing from childhood and eventually becoming static. [from MCA/MR]

MedGen UID:
163219
Concept ID:
C0796136
Disease or Syndrome
3.

Carcinoma of cervix

The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cervical cancer is caused by several types of a virus called human papillomaviruses (HPV). The virus spreads through sexual contact. Most women's bodies are able to fight HPV infection. But sometimes the virus leads to cancer. You're at higher risk if you smoke, have many children, use birth control pills for a long time, or have HIV infection. . Cervical cancer may not cause any symptoms at first, but later, you may have pelvic pain or bleeding from the vagina. It usually takes several years for normal cells in the cervix to turn into cancer cells. Your health care provider can find abnormal cells by doing a Pap test - examining cells from the cervix under a microscope. By getting regular Pap tests and pelvic exams you can find and treat changing cells before they turn into cancer. A vaccine for girls and young women protects against the four types of HPV that cause most cervical cancers. . NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
86222
Concept ID:
C0302592
Neoplastic Process
4.

Neoplasm of uterine cervix

Tumors or cancer of the UTERINE CERVIX. [from MeSH]

MedGen UID:
40201
Concept ID:
C0007873
Neoplastic Process
5.

Genitourinary neoplasm

Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female. [from MeSH]

MedGen UID:
22583
Concept ID:
C0042065
Neoplastic Process
6.

Neoplasm of uterus

Tumors or cancer of the UTERUS. [from MeSH]

MedGen UID:
12030
Concept ID:
C0042138
Neoplastic Process
7.

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
Organism Function
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