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Items: 1 to 20 of 27

1.

Hypoxia

A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). [from NCI]

MedGen UID:
66846
Concept ID:
C0242184
Pathologic Function
2.

Malignant melanoma

Melanoma is the most serious type of skin cancer. Often the first sign of melanoma is a change in the size, shape, color, or feel of a mole. Most melanomas have a black or black-blue area. Melanoma may also appear as a new mole. It may be black, abnormal, or ugly looking.. Thinking of ABCDE can help you remember what to watch for:. - Asymmetry - the shape of one half does not match the other. - Border - the edges are ragged, blurred or irregular. - Color - the color is uneven and may include shades of black, brown and tan. - Diameter - there is a change in size, usually an increase. -Evolving - the mole has changed over the past few weeks or months. Surgery is the first treatment of all stages of melanoma. Other treatments include chemotherapy and radiation, biologic, and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
9944
Concept ID:
C0025202
Neoplastic Process
3.

Melanoma

The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). [from HPO]

MedGen UID:
505377
Concept ID:
CN002586
Finding
4.

Albinism, ocular, with sensorineural deafness

Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain.Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor.The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.
[from GHR]

MedGen UID:
400230
Concept ID:
C1863198
Disease or Syndrome
5.

Prolyl-Hydroxylase Inhibitors

Compounds that inhibit the action of HYDROXYLASES that act on PROLINE to form HYDROXYPROLINE. [from MeSH]

MedGen UID:
772409
Concept ID:
C3658210
Pharmacologic Substance
6.

Sarcoma

Your soft tissues connect, support, or surround other tissues. Examples include your muscles, tendons, fat, and blood vessels. Soft tissue sarcoma is a cancer of these soft tissues. There are many kinds, based on the type of tissue they started in. They may cause a lump or swelling in the soft tissue. Sometimes they spread and can press on nerves and organs, causing problems such as pain or trouble breathing. No one knows exactly what causes these cancers. They are not common, but you have a higher risk if you have been exposed to certain chemicals, have had radiation therapy, or have certain genetic diseases. Doctors diagnose soft tissue sarcomas with a biopsy. Treatments include surgery to remove the tumor, radiation therapy, chemotherapy, or a combination. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
7.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
8.

Sarcoma metastatic

MedGen UID:
677117
Concept ID:
C0748505
Neoplastic Process
9.

Growth arrest

MedGen UID:
569472
Concept ID:
C0333951
Pathologic Function
10.

Visual Suppression

MedGen UID:
526147
Concept ID:
C0221103
Pathologic Function
11.

Sarcoma

A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. [from HPO]

MedGen UID:
506452
Concept ID:
CN117138
Finding
12.

Microphthalmia

A developmental anomaly characterized by abnormal smallness of one or both eyes. [from HPO]

MedGen UID:
504501
Concept ID:
CN000533
Finding
13.

Clear Cell Sarcoma of Soft Tissue

A sarcoma of young, often female, adults of the lower extremities and acral regions, intimately bound to tendons as circumscribed but unencapsulated melanin-bearing tumors of neuroectodermal origin. An ultrastructural finding simulates flattened and curved barrel staves, corresponding to the internal structures of premelanosomes. There is a 45-60% mortality in clear cell sarcoma. (Segen, Dictionary of Modern Medicine, 1992) [from MeSH]

MedGen UID:
104909
Concept ID:
C0206651
Neoplastic Process
14.

Metastatic Melanoma

A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. [from NCI]

MedGen UID:
83002
Concept ID:
C0278883
Neoplastic Process
15.

Microphthalmos

Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
[from GHR]

MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
16.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
17.

Cancer, Embryonal

MedGen UID:
199639
Concept ID:
C0751364
Neoplastic Process
18.

Neuroendocrine neoplasm

Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition. [from MeSH]

MedGen UID:
64652
Concept ID:
C0206754
Neoplastic Process
19.

Nevi and Melanomas

A collective term for the various types of nevi and melanomas. [from MeSH]

MedGen UID:
61679
Concept ID:
C0206769
Neoplastic Process
20.

Neuroectodermal neoplasm

A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. [from HPO]

MedGen UID:
60072
Concept ID:
C0206093
Neoplastic Process
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