Display Settings:

Format
Items per page

Send to:

Choose Destination

Results: 1 to 20 of 61

1.

Head & Shoulders brand of selenium disulfide

MedGen UID:
280641
Concept ID:
C1531398
Pharmacologic Substance
2.

SHORT syndrome

'Short,' the mnemonic designation for this syndrome, is an acronym: S = stature; H = hyperextensibility of joints or hernia (inguinal) or both; O = ocular depression; R = Rieger anomaly; T = teething delay. The name was given by Gorlin (1975), who described the syndrome in 2 brothers. Dyment et al. (2013) noted that the features listed in the acronym for SHORT syndrome do not capture the full range of the clinical phenotype, which can include a recognizable facial gestalt consisting of triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, as well as near-universal partial lipodystrophy, insulin resistance, nephrocalcinosis, and hearing deficits. Notably, both developmental milestones and cognition are normal for individuals with SHORT syndrome. [from OMIM]

MedGen UID:
164212
Concept ID:
C0878684
Congenital Abnormality
3.

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
4.

Sclerocornea, autosomal recessive

In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012). Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007). [from OMIM]

MedGen UID:
344000
Concept ID:
C1853235
Disease or Syndrome
5.

Frameshift Mutation function

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. [from MeSH]

MedGen UID:
86908
Concept ID:
C0079380
Cell or Molecular Dysfunction
6.

Macrocephaly

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014). [from OMIM]

MedGen UID:
65141
Concept ID:
C0221355
Congenital Abnormality
7.

Polydactyly

A congenital abnormality characterized by more than 5 digits on a hand or foot. [from NCI]

MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
8.

Hydrocephalus

Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28. [from OMIM]

MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
9.

Hernia

A hernia happens when part of an internal organ or tissue bulges through a weak area of muscle. Most hernias are in the abdomen. There are several types of hernias, including: - Inguinal, in the groin. This is the the most common type. - Umbilical, around the belly button. - Incisional, through a scar. - Hiatal, a small opening in the diaphragm that allows the upper part of the stomach to move up into the chest. - Congenital diaphragmatic, a birth defect that needs surgery. Hernias are common. They can affect men, women, and children. A combination of muscle weakness and straining, such as with heavy lifting, might contribute. Some people are born with weak abdominal muscles and may be more likely to get a hernia. Treatment is usually surgery to repair the opening in the muscle wall. Untreated hernias can cause pain and health problems.  [from MedlinePlus]

MedGen UID:
6816
Concept ID:
C0019270
Anatomical Abnormality
10.

Polydactyly

MedGen UID:
776570
Concept ID:
C2117329
Finding
11.

Macrocephaly

MedGen UID:
745757
Concept ID:
C2243051
Anatomical Abnormality
12.

Dysmorphism

MedGen UID:
740569
Concept ID:
C1737329
Congenital Abnormality
13.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
14.

Abnormal facial shape

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
505048
Concept ID:
CN001810
Finding
15.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
504774
Concept ID:
CN001157
Finding
16.

Sclerocornea

A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. [from HPO]

MedGen UID:
504536
Concept ID:
CN000608
Finding
17.

Microphthalmos

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

MedGen UID:
504501
Concept ID:
CN000533
Finding
18.

Growth delay

A deficiency or slowing down of growth pre- and postnatally. [from HPO]

MedGen UID:
500905
Concept ID:
CN001379
Finding
19.

Congenital diaphragmatic hernia

The presence of a hernia of the diaphragm present at birth. [from HPO]

MedGen UID:
500895
Concept ID:
CN000730
Finding
20.

Cognitive impairment

MedGen UID:
472155
Concept ID:
CN130077
Disease or Syndrome

Display Settings:

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...