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Results: 1 to 20 of 46

1.

Cohen syndrome

Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features. [from GeneReviews]

MedGen UID:
78539
Concept ID:
C0265223
Congenital Abnormality
2.

Intellectual functioning disability

A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. [from NCI]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
3.

prominent incisors

MedGen UID:
808242
Concept ID:
CN221669
Finding
4.

Venous thrombosis

MedGen UID:
776553
Concept ID:
C0517555
Finding
5.

Deep venous thrombosis

Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. [from HPO]

MedGen UID:
505301
Concept ID:
CN002386
Finding
6.

Intracranial hemorrhage

Hemorrhage occurring within the skull. [from HPO]

MedGen UID:
505138
Concept ID:
CN001967
Finding
7.

Abnormal facial shape

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

MedGen UID:
505048
Concept ID:
CN001810
Finding
8.

Joint laxity

Lack of stability of a joint. [from HPO]

MedGen UID:
504825
Concept ID:
CN001270
Finding
9.

Cerebral hemorrhage

Hemorrhage into the parenchyma of the brain. [from HPO]

MedGen UID:
504809
Concept ID:
CN001230
Finding
10.

Muscular hypotonia

Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. [from HPO]

MedGen UID:
504768
Concept ID:
CN001147
Finding
11.

Pectus excavatum

A defect of the chest wall characterized by a depression of the sternum, giving the chest (\ [from HPO]

MedGen UID:
504591
Concept ID:
CN000721
Finding
12.

Furrowed tongue

Accentuation of the grooves on the dorsal surface of the tongue. [from HPO]

MedGen UID:
504399
Concept ID:
CN000214
Finding
13.

Wide mouth

Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). [from HPO]

MedGen UID:
504368
Concept ID:
CN000150
Finding
14.

Highly arched eyebrow

Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. [from HPO]

MedGen UID:
500931
Concept ID:
CN002318
Finding
15.

Disproportionate tall stature

A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. [from HPO]

MedGen UID:
500906
Concept ID:
CN001387
Finding
16.

Hypercoagulability

MedGen UID:
463623
Concept ID:
C3160733
Finding
17.

Aneurysm

Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. [from HPO]

MedGen UID:
428304
Concept ID:
CN002379
Finding
18.

Abnormality of dental morphology

An abnormality of the morphology of the tooth. [from HPO]

MedGen UID:
428219
Concept ID:
CN005644
Finding
19.

Kyphoscoliosis

An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. [from HPO]

MedGen UID:
425109
Concept ID:
CN002496
Finding
20.

Nonsyndromic microcephaly

MedGen UID:
419828
Concept ID:
C2931527
Disease or Syndrome

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