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Results: 1 to 20 of 42

1.

SUPERNUMERARY DER(22)t(8

Carriers of the balanced constitutional translocation t(8;22)(q24.13;q11.2) are phenotypically normal but are at risk of having progeny with supernumerary der(22)t(8;22) syndrome as a result of malsegregation of the der(22). Although the supernumerary der(22)t(8;22) phenotype is variable between individuals, it tends to include ear and extremity abnormalities in addition to mild mental retardation (summary by Sheridan et al., 2010). [from OMIM]

MedGen UID:
462316
Concept ID:
C3150966
Disease or Syndrome
2.

Distal

Situated farthest from a point of reference. [from NCI]

MedGen UID:
64375
Concept ID:
C0205108
3.

Microcephalus

A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.) [from MeSH]

MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
4.

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
5.

Epicanthus

MedGen UID:
724513
Concept ID:
C1303004
Finding
6.

Moderate

Indicates the condition may result in noticable adverse adverse consequences but is unlikely to be life-threatening or cause permanent injury.  [from HL7]

MedGen UID:
525853
Concept ID:
C0205081
7.

Low-set ears

Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. [from HPO]

MedGen UID:
504425
Concept ID:
CN000345
Finding
8.

Growth delay

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

MedGen UID:
500905
Concept ID:
CN001379
Finding
9.

Smooth philtrum

Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. [from HPO]

MedGen UID:
500885
Concept ID:
CN000299
Finding
10.

Fanconi anemia, complementation group E

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk of malignancy. Physical abnormalities, present in 60%-75% of affected individuals, include one or more of the following: short stature; abnormal skin pigmentation; malformations of the thumbs, forearms, skeletal system, eyes, kidneys and urinary tract, ears (and decreased hearing), heart, gastrointestinal system, central nervous system; hypogonadism; and developmental delay. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. By age 40 to 50 years, the estimated cumulative incidence of bone marrow failure is 90%; the incidence of hematologic malignancies (primarily acute myeloid leukemia) 10%-30%; and of nonhematologic malignancies (solid tumors, particularly of the head and neck, skin, GI tract, and genital tract) 25%-30%. [from GeneReviews]

MedGen UID:
463628
Concept ID:
C3160739
Disease or Syndrome
11.

Long upper lip

MedGen UID:
462845
Concept ID:
C3151495
Finding
12.

Error occurred: cannot get document summary

ID:
441288

13.

Nonsyndromic microcephaly

MedGen UID:
419828
Concept ID:
C2931527
Disease or Syndrome
14.

Micrognathia

MedGen UID:
401012
Concept ID:
C1866485
Finding
15.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
16.

Microcephaly

MedGen UID:
337454
Concept ID:
C1845868
Finding
17.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
18.

Wide nose

MedGen UID:
140869
Concept ID:
C0426421
Finding
19.

Round face

MedGen UID:
116087
Concept ID:
C0239479
Finding
20.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082

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